FBN1_HUMAN
ID FBN1_HUMAN Reviewed; 2871 AA.
AC P35555; B2RUU0; D2JYH6; Q15972; Q75N87;
DT 01-JUN-1994, integrated into UniProtKB/Swiss-Prot.
DT 10-APR-2019, sequence version 4.
DT 03-AUG-2022, entry version 246.
DE RecName: Full=Fibrillin-1 {ECO:0000303|PubMed:15221638};
DE Contains:
DE RecName: Full=Asprosin {ECO:0000303|PubMed:27087445};
DE Flags: Precursor;
GN Name=FBN1 {ECO:0000312|HGNC:HGNC:3603}; Synonyms=FBN;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA].
RC TISSUE=Placenta;
RX PubMed=8364578; DOI=10.1093/hmg/2.7.961;
RA Pereira L.V., D'Alessio M., Ramirez F., Lynch J.R., Sykes B.,
RA Pangilinan T., Bonadio J.;
RT "Genomic organization of the sequence coding for fibrillin, the defective
RT gene product in Marfan syndrome.";
RL Hum. Mol. Genet. 2:961-968(1993).
RN [2]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANT MFS SER-2663, AND VARIANT
RP CYS-472.
RX PubMed=15221638; DOI=10.1007/s10038-004-0168-x;
RA Uyeda T., Takahashi T., Eto S., Sato T., Xu G., Kanezaki R., Toki T.,
RA Yonesaka S., Ito E.;
RT "Three novel mutations of the fibrillin-1 gene and ten single nucleotide
RT polymorphisms of the fibrillin-3 gene in Marfan syndrome patients.";
RL J. Hum. Genet. 49:404-407(2004).
RN [3]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA].
RA Rieder M.J., Bertucci C., Stanaway I.B., Johnson E.J., Swanson J.E.,
RA Siegel D.L., da Ponte S.H., Igartua C., Patterson K., Nickerson D.A.;
RL Submitted (SEP-2009) to the EMBL/GenBank/DDBJ databases.
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16572171; DOI=10.1038/nature04601;
RA Zody M.C., Garber M., Sharpe T., Young S.K., Rowen L., O'Neill K.,
RA Whittaker C.A., Kamal M., Chang J.L., Cuomo C.A., Dewar K.,
RA FitzGerald M.G., Kodira C.D., Madan A., Qin S., Yang X., Abbasi N.,
RA Abouelleil A., Arachchi H.M., Baradarani L., Birditt B., Bloom S.,
RA Bloom T., Borowsky M.L., Burke J., Butler J., Cook A., DeArellano K.,
RA DeCaprio D., Dorris L. III, Dors M., Eichler E.E., Engels R., Fahey J.,
RA Fleetwood P., Friedman C., Gearin G., Hall J.L., Hensley G., Johnson E.,
RA Jones C., Kamat A., Kaur A., Locke D.P., Madan A., Munson G., Jaffe D.B.,
RA Lui A., Macdonald P., Mauceli E., Naylor J.W., Nesbitt R., Nicol R.,
RA O'Leary S.B., Ratcliffe A., Rounsley S., She X., Sneddon K.M.B.,
RA Stewart S., Sougnez C., Stone S.M., Topham K., Vincent D., Wang S.,
RA Zimmer A.R., Birren B.W., Hood L., Lander E.S., Nusbaum C.;
RT "Analysis of the DNA sequence and duplication history of human chromosome
RT 15.";
RL Nature 440:671-675(2006).
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN [6]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [7]
RP NUCLEOTIDE SEQUENCE [MRNA], AND NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-55.
RC TISSUE=Fibroblast, and Placenta;
RX PubMed=7691719; DOI=10.1006/geno.1993.1350;
RA Corson G.M., Chalberg S.C., Dietz H.C., Charbonneau N.L., Sakai L.Y.;
RT "Fibrillin binds calcium and is coded by cDNAs that reveal a multidomain
RT structure and alternatively spliced exons at the 5' end.";
RL Genomics 17:476-484(1993).
RN [8]
RP NUCLEOTIDE SEQUENCE [MRNA] OF 899-2871.
RX PubMed=1852207; DOI=10.1038/352334a0;
RA Maslen C.L., Corson G.M., Maddox B.K., Glanville R.W., Sakai L.Y.;
RT "Partial sequence of a candidate gene for the Marfan syndrome.";
RL Nature 352:334-337(1991).
RN [9]
RP NUCLEOTIDE SEQUENCE [MRNA] OF 813-1313.
RX PubMed=1852206; DOI=10.1038/352330a0;
RA Lee B., Godfrey M., Vitale E., Hori H., Mattei M.-G., Sarfarazi M.,
RA Tsipouras P., Ramirez F., Hollister D.W.;
RT "Linkage of Marfan syndrome and a phenotypically related disorder to two
RT different fibrillin genes.";
RL Nature 352:330-334(1991).
RN [10]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 2086-2194.
RX PubMed=8430317; DOI=10.1126/science.8430317;
RA Dietz H.C., Valle D., Francomano C.A., Kendzior R.J. Jr., Pyeritz R.E.,
RA Cutting G.R.;
RT "The skipping of constitutive exons in vivo induced by nonsense
RT mutations.";
RL Science 259:680-683(1993).
RN [11]
RP PROTEIN SEQUENCE OF 25-36 AND 45-56, AND CLEAVAGE OF SIGNAL PEPTIDE AFTER
RP GLY-24.
RX PubMed=10636927; DOI=10.1074/jbc.275.3.2205;
RA Reinhardt D.P., Gambee J.E., Ono R.N., Baechinger H.P., Sakai L.Y.;
RT "Initial steps in assembly of microfibrils. Formation of disulfide-cross-
RT linked multimers containing fibrillin-1.";
RL J. Biol. Chem. 275:2205-2210(2000).
RN [12]
RP PROTEIN SEQUENCE OF 2732-2746, PROTEOLYTIC PROCESSING, MUTAGENESIS OF
RP ARG-2728; ARG-2731 AND SER-2732, AND CHARACTERIZATION OF VARIANT TRP-2726.
RX PubMed=9817919; DOI=10.1093/hmg/7.13.2039;
RA Loennqvist L., Reinhardt D., Sakai L., Peltonen L.;
RT "Evidence for furin-type activity-mediated C-terminal processing of
RT profibrillin-1 and interference in the processing by certain mutations.";
RL Hum. Mol. Genet. 7:2039-2044(1998).
RN [13]
RP INVOLVEMENT IN OCTD.
RX PubMed=2739055; DOI=10.1001/jama.1989.03430040095032;
RA Glesby M.J., Pyeritz R.E.;
RT "Association of mitral valve prolapse and systemic abnormalities of
RT connective tissue: a phenotypic continuum.";
RL JAMA 262:523-528(1989).
RN [14]
RP FUNCTION.
RX PubMed=1860873; DOI=10.1016/s0021-9258(18)98752-1;
RA Sakai L.Y., Keene D.R., Glanville R.W., Bachinger H.P.;
RT "Purification and partial characterization of fibrillin, a cysteine-rich
RT structural component of connective tissue microfibrils.";
RL J. Biol. Chem. 266:14763-14770(1991).
RN [15]
RP HEPARIN-BINDING, N-TERMINAL REGION DOMAIN, C-TERMINAL REGION DOMAIN, AND
RP SUBCELLULAR LOCATION.
RX PubMed=11461921; DOI=10.1074/jbc.m104985200;
RA Tiedemann K., Baetge B., Mueller P.K., Reinhardt D.P.;
RT "Interactions of fibrillin-1 with heparin/heparan sulfate, implications for
RT microfibrillar assembly.";
RL J. Biol. Chem. 276:36035-36042(2001).
RN [16]
RP FUNCTION, CELL ATTACHMENT SITE, MUTAGENESIS OF GLY-1542, AND INTERACTION
RP WITH ITGA5; ITGAV; ITGB1 AND ITGB3.
RX PubMed=12807887; DOI=10.1074/jbc.m303159200;
RA Bax D.V., Bernard S.E., Lomas A., Morgan A., Humphries J.,
RA Shuttleworth C.A., Humphries M.J., Kielty C.M.;
RT "Cell adhesion to fibrillin-1 molecules and microfibrils is mediated by
RT alpha 5 beta 1 and alpha v beta 3 integrins.";
RL J. Biol. Chem. 278:34605-34616(2003).
RN [17]
RP INTERACTION WITH MFAP2 AND MFAP5.
RX PubMed=15131124; DOI=10.1074/jbc.m313672200;
RA Hanssen E., Hew F.H., Moore E., Gibson M.A.;
RT "MAGP-2 has multiple binding regions on fibrillins and has covalent
RT periodic association with fibrillin-containing microfibrils.";
RL J. Biol. Chem. 279:29185-29194(2004).
RN [18]
RP INTERACTION WITH COL16A1.
RX PubMed=15165854; DOI=10.1016/j.jmb.2004.03.042;
RA Kassner A., Tiedemann K., Notbohm H., Ludwig T., Morgelin M.,
RA Reinhardt D.P., Chu M.-L., Bruckner P., Grassel S.;
RT "Molecular structure and interaction of recombinant human type XVI
RT collagen.";
RL J. Mol. Biol. 339:835-853(2004).
RN [19]
RP INTERACTION WITH FBLN5 AND ELN.
RX PubMed=15790312; DOI=10.1042/bj20050368;
RA Freeman L.J., Lomas A., Hodson N., Sherratt M.J., Mellody K.T., Weiss A.S.,
RA Shuttleworth A., Kielty C.M.;
RT "Fibulin-5 interacts with fibrillin-1 molecules and microfibrils.";
RL Biochem. J. 388:1-5(2005).
RN [20]
RP FUNCTION, AND INTERACTION WITH ITGA5; ITGAV; ITGB1 AND ITGB6.
RX PubMed=17158881; DOI=10.1074/jbc.m607008200;
RA Jovanovic J., Takagi J., Choulier L., Abrescia N.G., Stuart D.I.,
RA van der Merwe P.A., Mardon H.J., Handford P.A.;
RT "alphaVbeta6 is a novel receptor for human fibrillin-1. Comparative studies
RT of molecular determinants underlying integrin-rgd affinity and
RT specificity.";
RL J. Biol. Chem. 282:6743-6751(2007).
RN [21]
RP INTERACTION WITH ELN; FBLN2; EFEMP2 AND FBLN5.
RX PubMed=17255108; DOI=10.1074/jbc.m608204200;
RA El-Hallous E., Sasaki T., Hubmacher D., Getie M., Tiedemann K.,
RA Brinckmann J., Baetge B., Davis E.C., Reinhardt D.P.;
RT "Fibrillin-1 interactions with fibulins depend on the first hybrid domain
RT and provide an adaptor function to tropoelastin.";
RL J. Biol. Chem. 282:8935-8946(2007).
RN [22]
RP INTERACTION WITH LTBP1 AND LTBP2, AND TISSUE SPECIFICITY.
RX PubMed=17293099; DOI=10.1016/j.matbio.2006.12.006;
RA Hirani R., Hanssen E., Gibson M.A.;
RT "LTBP-2 specifically interacts with the amino-terminal region of fibrillin-
RT 1 and competes with LTBP-1 for binding to this microfibrillar protein.";
RL Matrix Biol. 26:213-223(2007).
RN [23]
RP INTERACTION WITH BMP2; BMP4; BMP7; BMP10 AND GDF5.
RX PubMed=18339631; DOI=10.1074/jbc.m707820200;
RA Sengle G., Charbonneau N.L., Ono R.N., Sasaki T., Alvarez J., Keene D.R.,
RA Baechinger H.P., Sakai L.Y.;
RT "Targeting of bone morphogenetic protein growth factor complexes to
RT fibrillin.";
RL J. Biol. Chem. 283:13874-13888(2008).
RN [24]
RP INTERACTION WITH EFEMP2.
RX PubMed=19349279; DOI=10.1074/jbc.m809348200;
RA Ono R.N., Sengle G., Charbonneau N.L., Carlberg V., Baechinger H.P.,
RA Sasaki T., Lee-Arteaga S., Zilberberg L., Rifkin D.B., Ramirez F.,
RA Chu M.L., Sakai L.Y.;
RT "Latent transforming growth factor beta-binding proteins and fibulins
RT compete for fibrillin-1 and exhibit exquisite specificities in binding
RT sites.";
RL J. Biol. Chem. 284:16872-16881(2009).
RN [25]
RP INTERACTION WITH EFEMP2.
RX PubMed=19570982; DOI=10.1074/jbc.m109.019364;
RA Choudhury R., McGovern A., Ridley C., Cain S.A., Baldwin A., Wang M.C.,
RA Guo C., Mironov A. Jr., Drymoussi Z., Trump D., Shuttleworth A.,
RA Baldock C., Kielty C.M.;
RT "Differential regulation of elastic fiber formation by fibulin-4 and -5.";
RL J. Biol. Chem. 284:24553-24567(2009).
RN [26]
RP GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-448; ASN-1067; ASN-1484 AND
RP ASN-1581.
RC TISSUE=Liver;
RX PubMed=19159218; DOI=10.1021/pr8008012;
RA Chen R., Jiang X., Sun D., Han G., Wang F., Ye M., Wang L., Zou H.;
RT "Glycoproteomics analysis of human liver tissue by combination of multiple
RT enzyme digestion and hydrazide chemistry.";
RL J. Proteome Res. 8:651-661(2009).
RN [27]
RP INVOLVEMENT IN MFLS (ASPROSIN).
RX PubMed=20979188; DOI=10.1002/ajmg.a.33690;
RA Graul-Neumann L.M., Kienitz T., Robinson P.N., Baasanjav S., Karow B.,
RA Gillessen-Kaesbach G., Fahsold R., Schmidt H., Hoffmann K., Passarge E.;
RT "Marfan syndrome with neonatal progeroid syndrome-like lipodystrophy
RT associated with a novel frameshift mutation at the 3' terminus of the FBN1-
RT gene.";
RL Am. J. Med. Genet. A 152A:2749-2755(2010).
RN [28]
RP INVOLVEMENT IN MFLS (ASPROSIN).
RX PubMed=21594992; DOI=10.1002/ajmg.a.33906;
RA Goldblatt J., Hyatt J., Edwards C., Walpole I.;
RT "Further evidence for a marfanoid syndrome with neonatal progeroid features
RT and severe generalized lipodystrophy due to frameshift mutations near the
RT 3' end of the FBN1 gene.";
RL Am. J. Med. Genet. A 155A:717-720(2011).
RN [29]
RP INVOLVEMENT IN MFLS (ASPROSIN).
RX PubMed=21594993; DOI=10.1002/ajmg.a.33905;
RA Horn D., Robinson P.N.;
RT "Progeroid facial features and lipodystrophy associated with a novel splice
RT site mutation in the final intron of the FBN1 gene.";
RL Am. J. Med. Genet. A 155A:721-724(2011).
RN [30]
RP INTERACTION WITH ADAMTS10.
RX PubMed=21402694; DOI=10.1074/jbc.m111.231571;
RA Kutz W.E., Wang L.W., Bader H.L., Majors A.K., Iwata K., Traboulsi E.I.,
RA Sakai L.Y., Keene D.R., Apte S.S.;
RT "ADAMTS10 protein interacts with fibrillin-1 and promotes its deposition in
RT extracellular matrix of cultured fibroblasts.";
RL J. Biol. Chem. 286:17156-17167(2011).
RN [31]
RP INTERACTION WITH ADAMTSL5.
RX PubMed=23010571; DOI=10.1016/j.matbio.2012.09.003;
RA Bader H.L., Wang L.W., Ho J.C., Tran T., Holden P., Fitzgerald J.,
RA Atit R.P., Reinhardt D.P., Apte S.S.;
RT "A disintegrin-like and metalloprotease domain containing thrombospondin
RT type 1 motif-like 5 (ADAMTSL5) is a novel fibrillin-1-, fibrillin-2-, and
RT heparin-binding member of the ADAMTS superfamily containing a netrin-like
RT module.";
RL Matrix Biol. 31:398-411(2012).
RN [32]
RP FUNCTION, AND INTERACTION WITH TNFSF11.
RX PubMed=24039232; DOI=10.1242/jcs.127571;
RA Tiedemann K., Boraschi-Diaz I., Rajakumar I., Kaur J., Roughley P.,
RA Reinhardt D.P., Komarova S.V.;
RT "Fibrillin-1 directly regulates osteoclast formation and function by a dual
RT mechanism.";
RL J. Cell Sci. 126:4187-4194(2013).
RN [33]
RP INVOLVEMENT IN MFLS (ASPROSIN), AND VARIANT MFLS THR-2741.
RX PubMed=24665001; DOI=10.1002/ajmg.a.36449;
RA Garg A., Xing C.;
RT "De novo heterozygous FBN1 mutations in the extreme C-terminal region cause
RT progeroid fibrillinopathy.";
RL Am. J. Med. Genet. A 164A:1341-1345(2014).
RN [34]
RP INVOLVEMENT IN MFLS (ASPROSIN).
RX PubMed=24039054; DOI=10.1002/ajmg.a.36157;
RA Takenouchi T., Hida M., Sakamoto Y., Torii C., Kosaki R., Takahashi T.,
RA Kosaki K.;
RT "Severe congenital lipodystrophy and a progeroid appearance: Mutation in
RT the penultimate exon of FBN1 causing a recognizable phenotype.";
RL Am. J. Med. Genet. A 161A:3057-3062(2013).
RN [35]
RP INVOLVEMENT IN MFLS (ASPROSIN).
RX PubMed=24613577; DOI=10.1016/j.ejmg.2014.02.012;
RA Jacquinet A., Verloes A., Callewaert B., Coremans C., Coucke P.,
RA de Paepe A., Kornak U., Lebrun F., Lombet J., Pierard G.E., Robinson P.N.,
RA Symoens S., Van Maldergem L., Debray F.G.;
RT "Neonatal progeroid variant of Marfan syndrome with congenital
RT lipodystrophy results from mutations at the 3' end of FBN1 gene.";
RL Eur. J. Med. Genet. 57:230-234(2014).
RN [36]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-2702, AND IDENTIFICATION BY
RP MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Liver;
RX PubMed=24275569; DOI=10.1016/j.jprot.2013.11.014;
RA Bian Y., Song C., Cheng K., Dong M., Wang F., Huang J., Sun D., Wang L.,
RA Ye M., Zou H.;
RT "An enzyme assisted RP-RPLC approach for in-depth analysis of human liver
RT phosphoproteome.";
RL J. Proteomics 96:253-262(2014).
RN [37]
RP SUBCELLULAR LOCATION, PROTEOLYTIC PROCESSING, AND CHARACTERIZATION OF
RP VARIANTS 2776-ARG--LEU-2781 DEL; PRO-2780; 2849-TYR--HIS-2871 DEL AND
RP 2867-GLN--HIS-2871 DEL.
RX PubMed=24982166; DOI=10.1073/pnas.1401697111;
RA Jensen S.A., Aspinall G., Handford P.A.;
RT "C-terminal propeptide is required for fibrillin-1 secretion and blocks
RT premature assembly through linkage to domains cbEGF41-43.";
RL Proc. Natl. Acad. Sci. U.S.A. 111:10155-10160(2014).
RN [38]
RP PHOSPHORYLATION AT SER-2702.
RX PubMed=26091039; DOI=10.1016/j.cell.2015.05.028;
RA Tagliabracci V.S., Wiley S.E., Guo X., Kinch L.N., Durrant E., Wen J.,
RA Xiao J., Cui J., Nguyen K.B., Engel J.L., Coon J.J., Grishin N.,
RA Pinna L.A., Pagliarini D.J., Dixon J.E.;
RT "A single kinase generates the majority of the secreted phosphoproteome.";
RL Cell 161:1619-1632(2015).
RN [39]
RP REVIEW.
RX PubMed=27026396; DOI=10.1042/bj20151108;
RA Jensen S.A., Handford P.A.;
RT "New insights into the structure, assembly and biological roles of 10-12 nm
RT connective tissue microfibrils from fibrillin-1 studies.";
RL Biochem. J. 473:827-838(2016).
RN [40]
RP FUNCTION (ASPROSIN), SUBCELLULAR LOCATION (ASPROSIN), AND INVOLVEMENT IN
RP MFLS (ASPROSIN).
RX PubMed=27087445; DOI=10.1016/j.cell.2016.02.063;
RA Romere C., Duerrschmid C., Bournat J., Constable P., Jain M., Xia F.,
RA Saha P.K., Del Solar M., Zhu B., York B., Sarkar P., Rendon D.A.,
RA Gaber M.W., LeMaire S.A., Coselli J.S., Milewicz D.M., Sutton V.R.,
RA Butte N.F., Moore D.D., Chopra A.R.;
RT "Asprosin, a fasting-induced glucogenic protein hormone.";
RL Cell 165:566-579(2016).
RN [41]
RP FUNCTION (ASPROSIN).
RX PubMed=31230984; DOI=10.1016/j.cmet.2019.05.022;
RA Li E., Shan H., Chen L., Long A., Zhang Y., Liu Y., Jia L., Wei F., Han J.,
RA Li T., Liu X., Deng H., Wang Y.;
RT "OLFR734 mediates glucose metabolism as a receptor of asprosin.";
RL Cell Metab. 30:319-328(2019).
RN [42]
RP INDUCTION (ASPROSIN).
RX PubMed=31775140; DOI=10.1159/000503808;
RA Wang M., Yin C., Wang L., Liu Y., Li H., Li M., Yi X., Xiao Y.;
RT "Serum Asprosin Concentrations Are Increased and Associated with Insulin
RT Resistance in Children with Obesity.";
RL Ann. Nutr. Metab. 75:205-212(2019).
RN [43]
RP INDUCTION (ASPROSIN).
RX PubMed=29104036; DOI=10.1016/j.cca.2017.10.034;
RA Zhang L., Chen C., Zhou N., Fu Y., Cheng X.;
RT "Circulating asprosin concentrations are increased in type 2 diabetes
RT mellitus and independently associated with fasting glucose and
RT triglyceride.";
RL Clin. Chim. Acta 489:183-188(2019).
RN [44]
RP FUNCTION (ASPROSIN).
RX PubMed=30853600; DOI=10.1016/j.mce.2019.03.001;
RA Lee T., Yun S., Jeong J.H., Jung T.W.;
RT "Asprosin impairs insulin secretion in response to glucose and viability
RT through TLR4/JNK-mediated inflammation.";
RL Mol. Cell. Endocrinol. 486:96-104(2019).
RN [45]
RP BIOTECHNOLOGY (ASPROSIN).
RX PubMed=33904407; DOI=10.7554/elife.63784;
RA Mishra I., Duerrschmid C., Ku Z., He Y., Xie W., Silva E.S., Hoffman J.,
RA Xin W., Zhang N., Xu Y., An Z., Chopra A.R.;
RT "Asprosin-neutralizing antibodies as a treatment for metabolic syndrome.";
RL Elife 10:0-0(2021).
RN [46]
RP INVOLVEMENT IN MFLS (ASPROSIN).
RX PubMed=26860060; DOI=10.1038/ejhg.2016.6;
RA Passarge E., Robinson P.N., Graul-Neumann L.M.;
RT "Marfanoid-progeroid-lipodystrophy syndrome: a newly recognized
RT fibrillinopathy.";
RL Eur. J. Hum. Genet. 24:1244-1247(2016).
RN [47]
RP INTERACTION WITH MFAP4.
RX PubMed=26601954; DOI=10.1074/jbc.m115.681775;
RA Pilecki B., Holm A.T., Schlosser A., Moeller J.B., Wohl A.P., Zuk A.V.,
RA Heumueller S.E., Wallis R., Moestrup S.K., Sengle G., Holmskov U.,
RA Sorensen G.L.;
RT "Characterization of microfibrillar-associated protein 4 (MFAP4) as a
RT tropoelastin- and fibrillin-binding protein involved in elastic fiber
RT formation.";
RL J. Biol. Chem. 291:1103-1114(2016).
RN [48]
RP GLYCOSYLATION AT SER-268; SER-471; SER-510; SER-552; SER-593; SER-634;
RP SER-787; SER-827; SER-1050; SER-1135; SER-1218; SER-1302; SER-1345;
RP SER-1386; SER-1508; SER-1628; SER-1830; SER-1871; SER-1911; SER-1953;
RP SER-2035; SER-2148; SER-2227; SER-2313; SER-2465; SER-2547 AND SER-2628,
RP AND SUBCELLULAR LOCATION.
RX PubMed=34411563; DOI=10.1016/j.jbc.2021.101055;
RA Williamson D.B., Sohn C.J., Ito A., Haltiwanger R.S.;
RT "POGLUT2 and POGLUT3 O-glucosylate multiple EGF repeats in fibrillin-1, -2,
RT and LTBP1 and promote secretion of fibrillin-1.";
RL J. Biol. Chem. 297:101055-101055(2021).
RN [49]
RP STRUCTURE BY NMR OF 2054-2125, AND DISULFIDE BONDS.
RX PubMed=9362480; DOI=10.1093/emboj/16.22.6659;
RA Yuan X., Downing A.K., Knott V., Handford P.A.;
RT "Solution structure of the transforming growth factor beta-binding protein-
RT like module, a domain associated with matrix fibrils.";
RL EMBO J. 16:6659-6666(1997).
RN [50]
RP STRUCTURE BY NMR OF 2124-2205.
RX PubMed=8568869; DOI=10.1006/jmbi.1996.0003;
RA Knott V., Downing A.K., Cardy C.M., Handford P.A.;
RT "Calcium binding properties of an epidermal growth factor-like domain pair
RT from human fibrillin-1.";
RL J. Mol. Biol. 255:22-27(1996).
RN [51]
RP STRUCTURE BY NMR OF 2124-2205.
RX PubMed=8653794; DOI=10.1016/s0092-8674(00)81259-3;
RA Downing A.K., Knott V., Werner J.M., Cardy C.M., Campbell I.D.,
RA Handford P.A.;
RT "Solution structure of a pair of calcium-binding epidermal growth factor-
RT like domains: implications for the Marfan syndrome and other genetic
RT disorders.";
RL Cell 85:597-605(1996).
RN [52]
RP STRUCTURE BY NMR OF 1069-1154 IN COMPLEX WITH CALCIUM, AND DISULFIDE BONDS.
RX PubMed=12511552; DOI=10.1074/jbc.m208266200;
RA Smallridge R.S., Whiteman P., Werner J.M., Campbell I.D., Handford P.A.,
RA Downing A.K.;
RT "Solution structure and dynamics of a calcium binding epidermal growth
RT factor-like domain pair from the neonatal region of human fibrillin-1.";
RL J. Biol. Chem. 278:12199-12206(2003).
RN [53]
RP X-RAY CRYSTALLOGRAPHY (1.35 ANGSTROMS) OF 1486-1647 IN COMPLEX WITH CALCIUM
RP IONS, FUNCTION, INTERACTION WITH INTEGRIN ALPHA-V/BETA-3, AND DISULFIDE
RP BONDS.
RX PubMed=15062093; DOI=10.1016/j.str.2004.02.023;
RA Lee S.S., Knott V., Jovanovic J., Harlos K., Grimes J.M., Choulier L.,
RA Mardon H.J., Stuart D.I., Handford P.A.;
RT "Structure of the integrin binding fragment from fibrillin-1 gives new
RT insights into microfibril organization.";
RL Structure 12:717-729(2004).
RN [54]
RP X-RAY CRYSTALLOGRAPHY (1.8 ANGSTROMS) OF 807-951 IN COMPLEX WITH CALCIUM,
RP AND DISULFIDE BONDS.
RX PubMed=19446531; DOI=10.1016/j.str.2009.03.014;
RA Jensen S.A., Iqbal S., Lowe E.D., Redfield C., Handford P.A.;
RT "Structure and interdomain interactions of a hybrid domain: a disulphide-
RT rich module of the fibrillin/LTBP superfamily of matrix proteins.";
RL Structure 17:759-768(2009).
RN [55]
RP STRUCTURE BY NMR OF 45-178, AND DISULFIDE BONDS.
RX PubMed=24035709; DOI=10.1016/j.str.2013.08.004;
RA Yadin D.A., Robertson I.B., McNaught-Davis J., Evans P., Stoddart D.,
RA Handford P.A., Jensen S.A., Redfield C.;
RT "Structure of the fibrillin-1 N-terminal domains suggests that heparan
RT sulfate regulates the early stages of microfibril assembly.";
RL Structure 21:1743-1756(2013).
RN [56]
RP REVIEW ON MFS VARIANTS.
RX PubMed=8594563; DOI=10.1093/nar/24.1.137;
RA Collod G., Beroud C., Soussi T., Junien C., Boileau C.;
RT "Software and database for the analysis of mutations in the human FBN1
RT gene.";
RL Nucleic Acids Res. 24:137-141(1996).
RN [57]
RP REVIEW ON MFS.
RX PubMed=10633129; DOI=10.1136/jmg.37.1.9;
RA Robinson P.N., Godfrey M.;
RT "The molecular genetics of Marfan syndrome and related
RT microfibrillopathies.";
RL J. Med. Genet. 37:9-25(2000).
RN [58]
RP REVIEW ON VARIANTS.
RX PubMed=12203987; DOI=10.1002/humu.10113;
RA Robinson P.N., Booms P., Katzke S., Ladewig M., Neumann L., Palz M.,
RA Pregla R., Tiecke F., Rosenberg T.;
RT "Mutations of FBN1 and genotype-phenotype correlations in Marfan syndrome
RT and related fibrillinopathies.";
RL Hum. Mutat. 20:153-161(2002).
RN [59]
RP VARIANT MFS PRO-1137.
RX PubMed=1852208; DOI=10.1038/352337a0;
RA Dietz H.C., Cutting G.R., Pyeritz R.E., Maslen C.L., Sakai L.Y.,
RA Corson G.M., Puffenberger E.G., Hamosh A., Nanthakumar E.J.,
RA Curristin S.M., Stetten G., Meyers D.A., Francomano C.A.;
RT "Marfan syndrome caused by a recurrent de novo missense mutation in the
RT fibrillin gene.";
RL Nature 352:337-339(1991).
RN [60]
RP VARIANTS MFS SER-1249; ARG-1663; SER-2221 AND SER-2307.
RX PubMed=1301946; DOI=10.1002/humu.1380010504;
RA Dietz H.C., Saraiva J.M., Pyeritz R.E., Cutting G.R., Francomano C.A.;
RT "Clustering of fibrillin (FBN1) missense mutations in Marfan syndrome
RT patients at cysteine residues in EGF-like domains.";
RL Hum. Mutat. 1:366-374(1992).
RN [61]
RP VARIANT MFS SER-2307.
RX PubMed=1569206; DOI=10.1172/jci115766;
RA Dietz H.C., Pyeritz R.E., Puffenberger E.G., Kendzior R.J. Jr.,
RA Corson G.M., Maslen C.L., Sakai L.Y., Francomano C.A., Cutting G.R.;
RT "Marfan phenotype variability in a family segregating a missense mutation
RT in the epidermal growth factor-like motif of the fibrillin gene.";
RL J. Clin. Invest. 89:1674-1680(1992).
RN [62]
RP VARIANTS MFS ILE-548 AND ALA-723.
RX PubMed=8406497; DOI=10.1006/geno.1993.1349;
RA Dietz H.C., McIntosh I., Sakai L.Y., Corson G.M., Chalberg S.C.,
RA Pyeritz R.E., Francomano C.A.;
RT "Four novel FBN1 mutations: significance for mutant transcript level and
RT EGF-like domain calcium binding in the pathogenesis of Marfan syndrome.";
RL Genomics 17:468-475(1993).
RN [63]
RP VARIANT MFS SER-2144.
RX PubMed=8504310; DOI=10.1093/hmg/2.4.475;
RA Hewett D.R., Lynch J.R., Smith R., Sykes B.C.;
RT "A novel fibrillin mutation in the Marfan syndrome which could disrupt
RT calcium binding of the epidermal growth factor-like module.";
RL Hum. Mol. Genet. 2:475-477(1993).
RN [64]
RP VARIANTS MFS ARG-862; TYR-1117; PRO-1137 AND PHE-1589, AND VARIANT
RP ALA-1148.
RX PubMed=8281141; DOI=10.1093/hmg/2.11.1813;
RA Tynan K., Comeau K., Pearson M., Wilgenbus P., Levitt D., Gasner C.,
RA Berg M.A., Miller D.C., Francke U.;
RT "Mutation screening of complete fibrillin-1 coding sequence: report of five
RT new mutations, including two in 8-cysteine domains.";
RL Hum. Mol. Genet. 2:1813-1821(1993).
RN [65]
RP VARIANTS MFS GLY-217 AND ARG-2627.
RX PubMed=7977366;
RA Karttunen L., Raghunath M., Loennqvist L., Peltonen L.;
RT "A compound-heterozygous Marfan patient: two defective fibrillin alleles
RT result in a lethal phenotype.";
RL Am. J. Hum. Genet. 55:1083-1091(1994).
RN [66]
RP VARIANT ECTOL1 LYS-2447.
RX PubMed=8188302; DOI=10.1006/geno.1994.1110;
RA Lonnqvist L., Child A., Kainulainen K., Davidson R., Puhakka L.,
RA Peltonen L.;
RT "A novel mutation of the fibrillin gene causing ectopia lentis.";
RL Genomics 19:573-576(1994).
RN [67]
RP VARIANT MFS CYS-627.
RX PubMed=8004112; DOI=10.1093/hmg/3.2.373;
RA Hayward C., Rae A.L., Porteous M.E.M., Logie L.J., Brock L.J.;
RT "Two novel mutations and a neutral polymorphism in EGF-like domains of the
RT fibrillin gene (FBN1): SSCP screening of exons 15-21 in Marfan syndrome
RT patients.";
RL Hum. Mol. Genet. 3:373-375(1994).
RN [68]
RP VARIANT MFS GLY-476.
RX PubMed=7951214; DOI=10.1093/hmg/3.6.1013;
RA Piersall L.D., Dietz H.C., Hall B.D., Cadle R.G., Pyeritz R.E.,
RA Francomano C.A., McIntosh I.;
RT "Substitution of a cysteine residue in a non-calcium binding, EGF-like
RT domain of fibrillin segregates with the Marfan syndrome in a large
RT kindred.";
RL Hum. Mol. Genet. 3:1013-1014(1994).
RN [69]
RP VARIANT 2776-ARG--LEU-2781 DEL.
RX PubMed=7911051; DOI=10.1002/humu.1380030212;
RA Hayward C., Porteous M.E., Brock D.J.;
RT "Identification of a novel nonsense mutation in the fibrillin gene (FBN1)
RT using nonisotopic techniques.";
RL Hum. Mutat. 3:159-162(1994).
RN [70]
RP VARIANT MFS CYS-122.
RX PubMed=8040326; DOI=10.1172/jci117389;
RA Stahl-Hallengren C., Ukkonen T., Kainulainen K., Kristofersson U.,
RA Saxne T., Tornqvist K., Peltonen L.;
RT "An extra cysteine in one of the non-calcium-binding epidermal growth
RT factor-like motifs of the FBN1 polypeptide is connected to a novel variant
RT of Marfan syndrome.";
RL J. Clin. Invest. 94:709-713(1994).
RN [71]
RP VARIANT MFS TYR-1223.
RX PubMed=8071963; DOI=10.1136/jmg.31.4.338;
RA Hewett D.R., Lynch J.R., Child A., Sykes B.C.;
RT "A new missense mutation of fibrillin in a patient with Marfan syndrome.";
RL J. Med. Genet. 31:338-339(1994).
RN [72]
RP VARIANT MFS HIS-1170.
RX PubMed=7870075; DOI=10.1006/mcpr.1994.1045;
RA Hayward C., Porteous M.E.M., Brock D.J.H.;
RT "A novel mutation in the fibrillin gene (FBN1) in familial
RT arachnodactyly.";
RL Mol. Cell. Probes 8:325-327(1994).
RN [73]
RP VARIANTS MFS GLY-217; ASN-1023; ARG-1074; TYR-1242; ARG-1513; GLU-2127;
RP TRP-2151; LYS-2447 AND ARG-2511.
RX PubMed=8136837; DOI=10.1038/ng0194-64;
RA Kainulainen K., Karttunen L., Puhakka L., Sakai L., Peltonen L.;
RT "Mutations in the fibrillin gene responsible for dominant ectopia lentis
RT and neonatal Marfan syndrome.";
RL Nat. Genet. 6:64-69(1994).
RN [74]
RP VARIANT MFS SER-1127.
RX PubMed=7762551;
RA Francke U., Berg M.A., Tynan K., Brenn T., Liu W., Aoyama T., Gasner C.,
RA Miller D.C., Furthmayr H.;
RT "A Gly1127Ser mutation in an EGF-like domain of the fibrillin-1 gene is a
RT risk factor for ascending aortic aneurysm and dissection.";
RL Am. J. Hum. Genet. 56:1287-1296(1995).
RN [75]
RP VARIANTS MFS TYR-129; PHE-166; CYS-746; ARG-926; ARG-1013; LYS-1073;
RP SER-1382 AND ARG-1928.
RX PubMed=7611299;
RA Nijbroek G., Sood S., McIntosh I., Francomano C.A., Bull E., Pereira L.,
RA Ramirez F., Pyeritz R.E., Dietz H.C.;
RT "Fifteen novel FBN1 mutations causing Marfan syndrome detected by
RT heteroduplex analysis of genomic amplicons.";
RL Am. J. Hum. Genet. 57:8-21(1995).
RN [76]
RP VARIANT MFS TYR-1223.
RA Dietz H.C., Sood I., McIntosh I.;
RT "The phenotypic continuum associated with FBN1 mutations includes the
RT Shprintzen-Goldberg syndrome.";
RL Am. J. Hum. Genet. 57:A211-A211(1995).
RN [77]
RP VARIANT TRP-2726, CHARACTERIZATION OF VARIANT TRP-2726, AND INVOLVEMENT IN
RP MFS.
RX PubMed=7738200; DOI=10.1172/jci117930;
RA Milewicz D.M., Grossfield J., Cao S.-N., Kielty C., Covitz W., Jewett T.;
RT "A mutation in FBN1 disrupts profibrillin processing and results in
RT isolated skeletal features of the Marfan syndrome.";
RL J. Clin. Invest. 95:2373-2378(1995).
RN [78]
RP VARIANTS MFS ARG-1053; GLY-1072; LYS-1073 AND GLY-1117.
RX PubMed=8882780;
RX DOI=10.1002/(sici)1096-8628(19960329)62:3<233::aid-ajmg7>3.0.co;2-u;
RA Putnam E.A., Cho M., Zinn A.B., Towbin J.A., Byers P.H., Milewicz D.M.;
RT "Delineation of the Marfan phenotype associated with mutations in exons 23-
RT 32 of the FBN1 gene.";
RL Am. J. Med. Genet. 62:233-242(1996).
RN [79]
RP VARIANTS MFS THR-705; TYR-711; GLY-1055 AND TYR-1153.
RX PubMed=8863159; DOI=10.1136/jmg.33.8.665;
RA Ades L.C., Haan E.A., Colley A.F., Richards R.I.;
RT "Characterisation of four novel fibrillin-1 (FBN1) mutations in Marfan
RT syndrome.";
RL J. Med. Genet. 33:665-671(1996).
RN [80]
RP VARIANT MFS TYR-587.
RX PubMed=9254848; DOI=10.1007/s004390050489;
RA Booms P., Withers A.P., Boxer M., Kaufmann U.C., Hagemeier C., Vetter U.,
RA Robinson P.N.;
RT "A novel de novo mutation in exon 14 of the fibrillin-1 gene associated
RT with delayed secretion of fibrillin in a patient with a mild Marfan
RT phenotype.";
RL Hum. Genet. 100:195-200(1997).
RN [81]
RP VARIANT ALA-1148.
RX PubMed=9150726; DOI=10.1007/s004390050414;
RA Schrijver I., Liu W., Francke U.;
RT "The pathogenicity of the Pro1148Ala substitution in the FBN1 gene: causing
RT or predisposing to Marfan syndrome and aortic aneurysm, or clinically
RT innocent?";
RL Hum. Genet. 99:607-611(1997).
RN [82]
RP VARIANTS MFS ARG-111; CYS-545; CYS-627; GLY-750; ARG-1074; HIS-1170;
RP TRP-1171; LYS-1173; TYR-1404; GLY-1610; LYS-1893; TRP-2099; TYR-2111;
RP ARG-2258; TRP-2282 AND ARG-2489.
RX PubMed=9338581;
RX DOI=10.1002/(sici)1098-1004(1997)10:4<280::aid-humu3>3.0.co;2-l;
RA Hayward C., Porteous M.E.M., Brock D.J.H.;
RT "Mutation screening of all 65 exons of the fibrillin-1 gene in 60 patients
RT with Marfan syndrome: report of 12 novel mutations.";
RL Hum. Mutat. 10:280-289(1997).
RN [83]
RP VARIANT ALA-1148.
RX PubMed=9338588;
RX DOI=10.1002/(sici)1098-1004(1997)10:4<326::aid-humu10>3.0.co;2-1;
RA Watanabe Y., Yano S., Koga Y., Yukizane S., Nishiyori A., Yoshino M.,
RA Kato H.;
RT "P1148A in fibrillin-1 is not a mutation leading to Shprintzen-Goldberg
RT syndrome.";
RL Hum. Mutat. 10:326-327(1997).
RN [84]
RP VARIANTS MFS ARG-996; THR-1048; THR-1048 DEL; CYS-1058 INS; TRP-1086;
RP SER-1837 AND CYS-2680.
RX PubMed=9401003;
RX DOI=10.1002/(sici)1098-1004(1997)10:6<415::aid-humu1>3.0.co;2-c;
RA Hayward C., Brock D.J.H.;
RT "Fibrillin-1 mutations in Marfan syndrome and other type-1
RT fibrillinopathies.";
RL Hum. Mutat. 10:415-423(1997).
RN [85]
RP VARIANT ALA-1148.
RX PubMed=8988160; DOI=10.1038/ng0197-12;
RA Wang M., Mathews K.R., Imaizumi K., Beiraghi S., Blumberg B., Scheuner M.,
RA Graham J.M. Jr., Godfrey M.;
RT "P1148A in fibrillin-1 is not a mutation anymore.";
RL Nat. Genet. 15:12-12(1997).
RN [86]
RP VARIANTS MFS ARG-661; ARG-1043 AND ARG-2511.
RX PubMed=9016526; DOI=10.1093/nar/25.1.147;
RA Collod-Beroud G., Beroud C., Ades L., Black C., Boxer M., Brock D.J.,
RA Godfrey M., Hayward C., Karttunen L., Milewicz D., Peltonen L.,
RA Richards R.I., Wang W., Junien C., Boileau C.;
RT "Marfan Database (second edition): software and database for the analysis
RT of mutations in the human FBN1 gene.";
RL Nucleic Acids Res. 25:147-150(1997).
RN [87]
RP VARIANT MFS ARG-1265.
RX PubMed=9837823; DOI=10.1086/302144;
RA Montgomery R.A., Geraghty M.T., Bull E., Gelb B.D., Johnson M.,
RA McIntosh I., Francomano C.A., Dietz H.C.;
RT "Multiple molecular mechanisms underlying subdiagnostic variants of Marfan
RT syndrome.";
RL Am. J. Hum. Genet. 63:1703-1711(1998).
RN [88]
RP VARIANT MFS CYS-122.
RX PubMed=9452085; DOI=10.1002/humu.1380110164;
RA Black C., Withers A.P., Gray J.R., Bridges A.B., Craig A., Baty D.U.,
RA Boxer M.;
RT "Correlation of a recurrent FBN1 mutation (R122C) with an atypical familial
RT Marfan syndrome phenotype.";
RL Hum. Mutat. Suppl. 1:S198-S200(1998).
RN [89]
RP VARIANT MFS ILE-984.
RX PubMed=10694921;
RX DOI=10.1002/(sici)1098-1004(1998)12:2<137::aid-humu16>3.0.co;2-j;
RA Grau U., Klein H.-G., Detter C., Mair H., Welz A., Seidel D., Reichart B.;
RT "A novel mutation in the neonatal region of the fibrillin (FBN) 1 gene
RT associated with a classical phenotype of Marfan syndrome (MfS).";
RL Hum. Mutat. 12:137-137(1998).
RN [90]
RP VARIANT MFS GLU-985.
RX PubMed=10441597; DOI=10.1086/302545;
RA Collod-Beroud G., Lackmy-Port-Lys M., Jondeau G., Mathieu M., Maingourd Y.,
RA Coulon M., Guillotel M., Junien C., Boileau C.;
RT "Demonstration of the recurrence of Marfan-like skeletal and cardiovascular
RT manifestations due to germline mosaicism for an FBN1 mutation.";
RL Am. J. Hum. Genet. 65:917-921(1999).
RN [91]
RP VARIANTS MFS PHE-504; TYR-1129; CYS-1261; SER-1833 AND TYR-2142.
RX PubMed=10425041;
RX DOI=10.1002/(sici)1098-1004(1999)14:2<181::aid-humu10>3.0.co;2-6;
RA El-Aleem A.A., Karck M., Haverich A., Schmidtke J., Arslan-Kirchner M.;
RT "Identification of 9 novel FBN1 mutations in German patients with Marfan
RT syndrome.";
RL Hum. Mutat. 14:181-181(1999).
RN [92]
RP VARIANTS MFS PHE-89; CYS-122; CYS-240; CYS-366; CYS-545; SER-560; TYR-570;
RP ASP-592; TRP-598; TYR-776; ARG-781; GLY-913; ARG-985; ARG-1013; TRP-1055;
RP TYR-1055; CYS-1101; PRO-1337; TYR-1339; SER-1429; PRO-1790; TYR-1791;
RP TYR-1835; THR-1909; SER-1915; TYR-1971; TYR-1977; HIS-2223; TRP-2282;
RP TYR-2406; PHE-2581; THR-2585; ARG-2618; LYS-2624 AND CYS-2668, VARIANTS
RP ECTOL1 CYS-1530 AND ARG-2154, AND VARIANT MITRAL VALVE PROLAPSE ILE-1128.
RX PubMed=11700157; DOI=10.1001/archinte.161.20.2447;
RA Loeys B., Nuytinck L., Delvaux I., De Bie S., De Paepe A.;
RT "Genotype and phenotype analysis of 171 patients referred for molecular
RT study of the fibrillin-1 gene FBN1 because of suspected Marfan syndrome.";
RL Arch. Intern. Med. 161:2447-2454(2001).
RN [93]
RP VARIANTS MFS CYS-62; TYR-587; TYR-596; ASN-654; TYR-681; ARG-683; TRP-685;
RP VAL-723; PHE-734; TYR-748; GLY-776; ARG-781; ARG-908; GLY-921; PRO-1790;
RP SER-1806; VAL-1931 DEL; TYR-1998; GLY-2221; THR-2269 AND TRP-2335, VARIANTS
RP ECTOL1 CYS-115; TYR-661 AND TYR-2339, AND VARIANT MET-2101.
RX PubMed=12203992; DOI=10.1002/humu.10112;
RA Katzke S., Booms P., Tiecke F., Palz M., Pletschacher A., Turkmen S.,
RA Neumann L.M., Pregla R., Leitner C., Schramm C., Lorenz P., Hagemeier C.,
RA Fuchs J., Skovby F., Rosenberg T., Robinson P.N.;
RT "TGGE screening of the entire FBN1 coding sequence in 126 individuals with
RT Marfan syndrome and related fibrillinopathies.";
RL Hum. Mutat. 20:197-208(2002).
RN [94]
RP VARIANTS MFS 429-ARG--HIS-2871 DEL; ILE-449; SER-880; CYS-1101; TYR-1806;
RP ILE-1908; ASP-1919 AND ARG-2251.
RX PubMed=12402346; DOI=10.1002/humu.9075;
RA Rommel K., Karck M., Haverich A., Schmidtke J., Arslan-Kirchner M.;
RT "Mutation screening of the fibrillin-1 (FBN1) gene in 76 unrelated patients
RT with Marfan syndrome or Marfanoid features leads to the identification of
RT 11 novel and three previously reported mutations.";
RL Hum. Mutat. 20:406-407(2002).
RN [95]
RP VARIANTS MFS CYS-114; ARG-890; GLY-1200; TYR-1835; ARG-2111; CYS-2474 AND
RP GLY-2652, AND VARIANT ECTOL1 CYS-240.
RX PubMed=11826022; DOI=10.1136/jmg.39.1.34;
RA Koerkkoe J., Kaitila I., Loennqvist L., Peltonen L., Ala-Kokko L.;
RT "Sensitivity of conformation sensitive gel electrophoresis in detecting
RT mutations in Marfan syndrome and related conditions.";
RL J. Med. Genet. 39:34-41(2002).
RN [96]
RP VARIANTS MFS CYS-627; ASN-654; TYR-748; 1541-ARG--HIS-2871 DEL; TYR-1835;
RP ARG-1977; TYR-2258; 2394-ARG--HIS-2871 DEL; 2466-TYR--HIS-2871 DEL AND
RP 2467-GLN--HIS-2871 DEL, AND VARIANT PRO-2780.
RX PubMed=12161601; DOI=10.1136/jmg.39.8.589;
RA Halliday D.J., Hutchinson S., Lonie L., Hurst J.A., Firth H.,
RA Handford P.A., Wordsworth P.;
RT "Twelve novel FBN1 mutations in Marfan syndrome and Marfan related
RT phenotypes test the feasibility of FBN1 mutation testing in clinical
RT practice.";
RL J. Med. Genet. 39:589-593(2002).
RN [97]
RP VARIANT WMS2 1692-ARG--TYR-1699 DEL.
RX PubMed=12525539; DOI=10.1136/jmg.40.1.34;
RA Faivre L., Gorlin R.J., Wirtz M.K., Godfrey M., Dagoneau N., Samples J.R.,
RA Le Merrer M., Collod-Beroud G., Boileau C., Munnich A., Cormier-Daire V.;
RT "In frame fibrillin-1 gene deletion in autosomal dominant Weill-Marchesani
RT syndrome.";
RL J. Med. Genet. 40:34-36(2003).
RN [98]
RP VARIANTS MFS SER-154; SER-166; CYS-240; SER-652; THR-705; TYR-711; SER-816;
RP ARG-1013; TYR-1044; GLY-1055; CYS-1101; TYR-1117; TYR-1153; ASN-1155;
RP GLN-1325; LYS-1366; SER-1374; ARG-1389; 1394-GLY--THR-1396 DEL; ALA-1424;
RP CYS-1530; TYR-1564; PHE-1770; TRP-1793; GLU-1796; TRP-2442; THR-2585 AND
RP PRO-2623.
RX PubMed=14695540; DOI=10.1002/humu.9207;
RA Biggin A., Holman K., Brett M., Bennetts B., Ades L.;
RT "Detection of thirty novel FBN1 mutations in patients with Marfan syndrome
RT or a related fibrillinopathy.";
RL Hum. Mutat. 23:99-99(2004).
RN [99]
RP CHARACTERIZATION OF VARIANTS MFS CYS-627; GLY-750 AND ARG-926.
RX PubMed=15161917; DOI=10.1074/jbc.m405239200;
RA Vollbrandt T., Tiedemann K., El-Hallous E., Lin G., Brinckmann J., John H.,
RA Baetge B., Notbohm H., Reinhardt D.P.;
RT "Consequences of cysteine mutations in calcium-binding epidermal growth
RT factor modules of fibrillin-1.";
RL J. Biol. Chem. 279:32924-32931(2004).
RN [100]
RP VARIANTS MFS CYS-20; TYR-123; ARG-177; ARG-224; GLY-439; 629-VAL--GLY-633
RP DEL; CYS-635; ILE-636; TYR-832; GLY-890; ASP-1058; SER-1153; PHE-1211 DEL;
RP CYS-1219; ASP-1261; SER-1278; SER-1333; ARG-1402; SER-1424; PHE-1564;
RP GLY-1631; TYR-1663; TYR-1876; ILE-1887; ARG-1895; TYR-1900; PRO-2160;
RP PHE-2221; THR-2385; ARG-2500; TYR-2500; TRP-2535; LYS-2570; ARG-2571;
RP SER-2592; LYS-2610 AND CYS-2629.
RX PubMed=16222657; DOI=10.1002/humu.9377;
RA Arbustini E., Grasso M., Ansaldi S., Malattia C., Pilotto A., Porcu E.,
RA Disabella E., Marziliano N., Pisani A., Lanzarini L., Mannarino S.,
RA Larizza D., Mosconi M., Antoniazzi E., Zoia M.C., Meloni G., Magrassi L.,
RA Brega A., Bedeschi M.F., Torrente I., Mari F., Tavazzi L.;
RT "Identification of sixty-two novel and twelve known FBN1 mutations in
RT eighty-one unrelated probands with Marfan syndrome and other
RT fibrillinopathies.";
RL Hum. Mutat. 26:494-494(2005).
RN [101]
RP VARIANTS MFS ASN-507 DEL; TYR-541; CYS-627; TYR-781; ARG-985; ARG-1013;
RP VAL-1113; GLY-1284; SER-1475; GLU-1475; THR-1576; ARG-1791; GLY-1928;
RP TYR-1928; TYR-2038; ARG-2085; SER-2144; ARG-2536 AND TYR-2605.
RX PubMed=16220557; DOI=10.1002/humu.20239;
RA Rommel K., Karck M., Haverich A., von Kodolitsch Y., Rybczynski M.,
RA Muller G., Singh K.K., Schmidtke J., Arslan-Kirchner M.;
RT "Identification of 29 novel and nine recurrent fibrillin-1 (FBN1) mutations
RT and genotype-phenotype correlations in 76 patients with Marfan syndrome.";
RL Hum. Mutat. 26:529-539(2005).
RN [102]
RP VARIANTS MFS CYS-122; SER-214; 248-ASP--HIS-2871 DEL; 351-GLN--HIS-2871
RP DEL; ARG-365; 366-TRP--HIS-2871 DEL; TRP-474; CYS-545; TRP-546;
RP 565-ARG--HIS-2871 DEL; TYR-727; CYS-828; TYR-832; 861-ARG--HIS-2871 DEL;
RP VAL-882; CYS-974; HIS-976; 994-GLU--HIS-2871 DEL; TYR-1032; THR-1048;
RP TYR-1074; ILE-1088; 1125-ARG--HIS-2871 DEL; TYR-1138; 1140-CYS--HIS-2871
RP DEL; GLY-1158; HIS-1170; ARG-1223; ARG-1249; TYR-1307; ARG-1326; LEU-1346;
RP LYS-1366; TYR-1402; ALA-1424; ASP-1427; ARG-1485; TYR-1528;
RP 1541-ARG--HIS-2871 DEL; ARG-1622; TYR-1720; TYR-1793; VAL-1796; SER-1806;
RP LYS-1811; CYS-1830; PHE-1835; TRP-1847; ASP-1879; ARG-1987;
RP 2053-CYS--HIS-2871 DEL; MET-2118; GLU-2127; ASP-2144; PRO-2145; TYR-2153;
RP THR-2185; 2220-ARG--HIS-2871 DEL; THR-2269; TRP-2274; LYS-2447; ARG-2489;
RP MET-2520; ARG-2536; 2542-GLN--HIS-2871 DEL; VAL-2555; 2571-CYS--HIS-2871
RP DEL; TYR-2577; THR-2585; LYS-2610 AND ARG-2618, VARIANTS ECTOL1 CYS-63;
RP SER-68; CYS-240; TRP-365; CYS-545; ARG-596; PRO-634; VAL-882;
RP 1086-CYS--HIS-2871 DEL; ASN-1155; ARG-1692 DEL; GLY-2250; CYS-2272;
RP LYS-2447 AND ARG-2448, AND VARIANTS ASP-127; ARG-160; SER-164;
RP 215-ARG--HIS-2871 DEL; 364-ARG--HIS-2871 DEL; ARG-504; TYR-652;
RP 653-VAL--HIS-2871 DEL; 752-SER--HIS-2871 DEL; CYS-954; 966-GLU--HIS-2871
RP DEL; 988-TRP--HIS-2871 DEL; GLY-1028; GLY-1406; SER-1633;
RP 1644-ARG--HIS-2871 DEL; PHE-1777; 1796-GLY--HIS-2871 DEL; TYR-1812;
RP SER-1907; HIS-1930; LYS-2105; ASP-2136; 2169-GLU--HIS-2871 DEL; ARG-2195;
RP PRO-2224; 2229-GLU--HIS-2871 DEL; MET-2234; THR-2273; TRP-2289; TYR-2302;
RP TYR-2365; TRP-2470; ILE-2516; SER-2526; PHE-2541; TRP-2554; TRP-2726 AND
RP 2840-LYS--HIS-2871 DEL.
RX PubMed=17657824; DOI=10.1002/humu.9505;
RA Comeglio P., Johnson P., Arno G., Brice G., Evans A., Aragon-Martin J.,
RA da Silva F.P., Kiotsekoglou A., Child A.;
RT "The importance of mutation detection in Marfan syndrome and Marfan-related
RT disorders: report of 193 FBN1 mutations.";
RL Hum. Mutat. 28:928-928(2007).
RN [103]
RP VARIANTS MFS TYR-123; SER-136; SER-177; TYR-177; SER-214; 348-GLN--HIS-2871
RP DEL; 429-ARG--HIS-2871 DEL; ARG-488; TYR-576; ARG-582; PHE-623; CYS-635;
RP TYR-684; CYS-721; ARG-816; SER-880; GLU-884; TYR-1008; SER-1042;
RP 1125-ARG--HIS-2871 DEL; 1136-TYR--HIS-2871 DEL; TRP-1182; TYR-1265;
RP ARG-1320; 1534-CYS--HIS-2871 DEL; 1539-ARG--HIS-2871 DEL;
RP 1541-ARG--HIS-2871 DEL; GLY-1631; ARG-1672; TYR-1672; GLY-1674;
RP 1735-GLN--HIS-2871 DEL; LYS-1811; ARG-1847; TYR-1860; LYS-1894; TYR-1900;
RP GLY-1934; TRP-1977; 2057-ARG--HIS-2871 DEL; 2062-TYR--HIS-2871 DEL;
RP 2064-LYS--HIS-2871 DEL; TYR-2084; LYS-2130; ARG-2221; TYR-2232; THR-2269;
RP THR-2284; TYR-2470; PRO-2561; LYS-2570; ARG-2577 AND 2694-ARG--HIS-2871
RP DEL, AND VARIANTS PRO-39; ARG-937; ALA-1020; TRP-2726 AND
RP 2774-LYS--HIS-2871 DEL.
RX PubMed=18435798; DOI=10.1111/j.1399-0004.2008.01007.x;
RA Attanasio M., Lapini I., Evangelisti L., Lucarini L., Giusti B.,
RA Porciani M., Fattori R., Anichini C., Abbate R., Gensini G., Pepe G.;
RT "FBN1 mutation screening of patients with Marfan syndrome and related
RT disorders: detection of 46 novel FBN1 mutations.";
RL Clin. Genet. 74:39-46(2008).
RN [104]
RP VARIANTS MFS ASP-57; TYR-100; TYR-129; 861-ARG--HIS-2871 DEL; HIS-910;
RP 921-CYS--HIS-2871 DEL; PRO-1130; 1790-ARG--HIS-2871 DEL; ARG-1812;
RP SER-1826; TRP-2084; LYS-2130; SER-2144; 2298-LYS--HIS-2871 DEL; TYR-2522
RP AND SER-2708.
RX PubMed=19533785; DOI=10.1002/ajmg.a.32918;
RA Chung B.H., Lam S.T., Tong T.M., Li S.Y., Lun K.S., Chan D.H., Fok S.F.,
RA Or J.S., Smith D.K., Yang W., Lau Y.L.;
RT "Identification of novel FBN1 and TGFBR2 mutations in 65 probands with
RT Marfan syndrome or Marfan-like phenotypes.";
RL Am. J. Med. Genet. A 149A:1452-1459(2009).
RN [105]
RP VARIANT 2867-GLN--HIS-2871 DEL.
RX PubMed=19293843; DOI=10.1038/ejhg.2009.36;
RA Stheneur C., Collod-Beroud G., Faivre L., Buyck J.F., Gouya L.,
RA Le Parc J.M., Moura B., Muti C., Grandchamp B., Sultan G., Claustres M.,
RA Aegerter P., Chevallier B., Jondeau G., Boileau C.;
RT "Identification of the minimal combination of clinical features in probands
RT for efficient mutation detection in the FBN1 gene.";
RL Eur. J. Hum. Genet. 17:1121-1128(2009).
RN [106]
RP VARIANT MFS GLY-1068.
RX PubMed=20803651; DOI=10.1002/ajmg.a.33406;
RA Barnett C.P., Wilson G.J., Chiasson D.A., Gross G.J., Hinek A., Hawkins C.,
RA Chitayat D.;
RT "Central nervous system abnormalities in two cases with neonatal Marfan
RT syndrome with novel mutations in the fibrillin-1 gene.";
RL Am. J. Med. Genet. A 152:2409-2412(2010).
RN [107]
RP VARIANT 2849-TYR--HIS-2871 DEL.
RX PubMed=21034599;
RA Gao L.G., Zhang L., Song L., Wang H., Chang Q., Wu Y.B., Hui R.T.,
RA Zhou X.L.;
RT "Identification of a novel lethal fibrillin-1 gene mutation in a Chinese
RT Marfan family and correlation of 3' fibrillin-1 gene mutations with
RT phenotype.";
RL Chin. Med. J. 123:2874-2878(2010).
RN [108]
RP VARIANTS MFS 515-CYS-ARG-516 DELINS TRP-GLY AND CYS-1530.
RX PubMed=19941982; DOI=10.1016/j.ejmg.2009.11.001;
RA Villamizar C., Regalado E.S., Fadulu V.T., Hasham S.N., Gupta P.,
RA Willing M.C., Kuang S.Q., Guo D., Muilenburg A., Yee R.W., Fan Y.,
RA Towbin J., Coselli J.S., LeMaire S.A., Milewicz D.M.;
RT "Paucity of skeletal manifestations in Hispanic families with FBN1
RT mutations.";
RL Eur. J. Med. Genet. 53:80-84(2010).
RN [109]
RP VARIANT ALA-1148.
RX PubMed=20547088; DOI=10.1016/j.legalmed.2010.04.001;
RA Yuasa I., Umetsu K., Matsusue A., Nishimukai H., Harihara S., Fukumori Y.,
RA Saitou N., Jin F., Chattopadhyay P.K., Henke L., Henke J.;
RT "A Japanese-specific allele in the GALNT11 gene.";
RL Leg. Med. 12:208-211(2010).
RN [110]
RP VARIANTS SSKS SER-1564; CYS-1570; GLY-1577 AND ASP-1594.
RX PubMed=20375004; DOI=10.1126/scitranslmed.3000488;
RA Loeys B.L., Gerber E.E., Riegert-Johnson D., Iqbal S., Whiteman P.,
RA McConnell V., Chillakuri C.R., Macaya D., Coucke P.J., De Paepe A.,
RA Judge D.P., Wigley F., Davis E.C., Mardon H.J., Handford P., Keene D.R.,
RA Sakai L.Y., Dietz H.C.;
RT "Mutations in fibrillin-1 cause congenital scleroderma: stiff skin
RT syndrome.";
RL Sci. Transl. Med. 2:23RA20-23RA20(2010).
RN [111]
RP VARIANTS GPHYSD2 CYS-1696; ASP-1699; CYS-1699; TYR-1706; TRP-1719;
RP THR-1728; VAL-1728; TYR-1733 AND SER-1762, AND VARIANTS ACMICD CYS-1699;
RP CYS-1700; ARG-1714; CYS-1722; VAL-1726; THR-1728; GLN-1735 INS; ARG-1750
RP AND VAL-1758.
RX PubMed=21683322; DOI=10.1016/j.ajhg.2011.05.012;
RA Le Goff C., Mahaut C., Wang L.W., Allali S., Abhyankar A., Jensen S.,
RA Zylberberg L., Collod-Beroud G., Bonnet D., Alanay Y., Brady A.F.,
RA Cordier M.P., Devriendt K., Genevieve D., Kiper P.O., Kitoh H., Krakow D.,
RA Lynch S.A., Le Merrer M., Megarbane A., Mortier G., Odent S., Polak M.,
RA Rohrbach M., Sillence D., Stolte-Dijkstra I., Superti-Furga A.,
RA Rimoin D.L., Topouchian V., Unger S., Zabel B., Bole-Feysot C.,
RA Nitschke P., Handford P., Casanova J.L., Boileau C., Apte S.S., Munnich A.,
RA Cormier-Daire V.;
RT "Mutations in the TGFbeta binding-protein-like domain 5 of FBN1 are
RT responsible for acromicric and geleophysic dysplasias.";
RL Am. J. Hum. Genet. 89:7-14(2011).
RN [112]
RP VARIANTS MFS GLY-80; TYR-490; TYR-499; ARG-611; GLY-617; TRP-685; TYR-685;
RP TYR-790; TYR-811; SER-853; TYR-926; SER-1090; ASP-1185; TYR-1284; PHE-1350;
RP ALA-1401; TRP-1431; TYR-1431; ALA-1487; LYS-1489; CYS-1838; TYR-1900;
RP THR-1909; SER-1934; GLY-1976; ARG-1984; ASN-2166; THR-2185; GLY-2247;
RP ARG-2318; TYR-2406; SER-2442; ARG-2511; VAL-2606 DEL; LYS-2610 AND
RP ARG-2646, AND VARIANTS GLY-1481 AND HIS-2793.
RX PubMed=21542060; DOI=10.1002/humu.21525;
RA Baetens M., Van Laer L., De Leeneer K., Hellemans J., De Schrijver J.,
RA Van De Voorde H., Renard M., Dietz H., Lacro R.V., Menten B.,
RA Van Criekinge W., De Backer J., De Paepe A., Loeys B., Coucke P.J.;
RT "Applying massive parallel sequencing to molecular diagnosis of Marfan and
RT Loeys-Dietz syndromes.";
RL Hum. Mutat. 32:1053-1062(2011).
RN [113]
RP VARIANTS MFS GLU-55; GLN-219; SER-699; SER-880; TYR-908; ARG-1117;
RP ALA-1199; 1539-ARG--HIS-2871 DEL; GLY-1642; ARG-1865; 2081-GLN--HIS-2871
RP DEL AND 2220-ARG--HIS-2871 DEL.
RX PubMed=22772377; DOI=10.1007/s00109-012-0931-y;
RA Wang W.J., Han P., Zheng J., Hu F.Y., Zhu Y., Xie J.S., Guo J., Zhang Z.,
RA Dong J., Zheng G.Y., Cao H., Liu T.S., Fu Q., Sun L., Yang B.B., Tian X.L.;
RT "Exon 47 skipping of fibrillin-1 leads preferentially to cardiovascular
RT defects in patients with thoracic aortic aneurysms and dissections.";
RL J. Mol. Med. 91:37-47(2013).
CC -!- FUNCTION: [Fibrillin-1]: Structural component of the 10-12 nm diameter
CC microfibrils of the extracellular matrix, which conveys both structural
CC and regulatory properties to load-bearing connective tissues
CC (PubMed:1860873, PubMed:15062093). Fibrillin-1-containing microfibrils
CC provide long-term force bearing structural support (PubMed:27026396).
CC In tissues such as the lung, blood vessels and skin, microfibrils form
CC the periphery of the elastic fiber, acting as a scaffold for the
CC deposition of elastin (PubMed:27026396). In addition, microfibrils can
CC occur as elastin-independent networks in tissues such as the ciliary
CC zonule, tendon, cornea and glomerulus where they provide tensile
CC strength and have anchoring roles (PubMed:27026396). Fibrillin-1 also
CC plays a key role in tissue homeostasis through specific interactions
CC with growth factors, such as the bone morphogenetic proteins (BMPs),
CC growth and differentiation factors (GDFs) and latent transforming
CC growth factor-beta-binding proteins (LTBPs), cell-surface integrins and
CC other extracellular matrix protein and proteoglycan components
CC (PubMed:27026396). Regulates osteoblast maturation by controlling TGF-
CC beta bioavailability and calibrating TGF-beta and BMP levels,
CC respectively (By similarity). Negatively regulates osteoclastogenesis
CC by binding and sequestering an osteoclast differentiation and
CC activation factor TNFSF11 (PubMed:24039232). This leads to disruption
CC of TNFSF11-induced Ca(2+) signaling and impairment of TNFSF11-mediated
CC nuclear translocation and activation of transcription factor NFATC1
CC which regulates genes important for osteoclast differentiation and
CC function (PubMed:24039232). Mediates cell adhesion via its binding to
CC cell surface receptors integrins ITGAV:ITGB3 and ITGA5:ITGB1
CC (PubMed:12807887, PubMed:17158881). Binds heparin and this interaction
CC has an important role in the assembly of microfibrils
CC (PubMed:11461921). {ECO:0000250|UniProtKB:Q61554,
CC ECO:0000269|PubMed:11461921, ECO:0000269|PubMed:12807887,
CC ECO:0000269|PubMed:15062093, ECO:0000269|PubMed:17158881,
CC ECO:0000269|PubMed:1860873, ECO:0000269|PubMed:24039232,
CC ECO:0000303|PubMed:27026396}.
CC -!- FUNCTION: [Asprosin]: Adipokine secreted by white adipose tissue that
CC plays an important regulatory role in the glucose metabolism of liver,
CC muscle and pancreas (PubMed:27087445, PubMed:30853600). Hormone that
CC targets the liver in response to fasting to increase plasma glucose
CC levels (PubMed:27087445). Binds the olfactory receptor OR4M1 at the
CC surface of hepatocytes and promotes hepatocyte glucose release by
CC activating the protein kinase A activity in the liver, resulting in
CC rapid glucose release into the circulation (PubMed:27087445,
CC PubMed:31230984). May act as a regulator of adaptive thermogenesis by
CC inhibiting browning and energy consumption, while increasing lipid
CC deposition in white adipose tissue (By similarity). Also acts as an
CC orexigenic hormone that increases appetite: crosses the blood brain
CC barrier and exerts effects on the hypothalamus (By similarity). In the
CC arcuate nucleus of the hypothalamus, asprosin directly activates
CC orexigenic AgRP neurons and indirectly inhibits anorexigenic POMC
CC neurons, resulting in appetite stimulation (By similarity). Activates
CC orexigenic AgRP neurons via binding to the olfactory receptor OR4M1 (By
CC similarity). May also play a role in sperm motility in testis via
CC interaction with OR4M1 receptor (By similarity).
CC {ECO:0000250|UniProtKB:Q61554, ECO:0000269|PubMed:27087445,
CC ECO:0000269|PubMed:30853600, ECO:0000269|PubMed:31230984}.
CC -!- SUBUNIT: [Fibrillin-1]: Interacts with COL16A1 (PubMed:15165854).
CC Interacts with integrin alpha-V/beta-3 (PubMed:15062093). Interacts
CC with ADAMTS10; this interaction promotes microfibril assembly
CC (PubMed:21402694). Interacts with THSD4; this interaction promotes
CC fibril formation (By similarity). Interacts (via N-terminal domain)
CC with FBLN2 and FBLN5 (PubMed:15790312, PubMed:17255108). Interacts with
CC ELN (PubMed:15790312). Forms a ternary complex with ELN and FBLN2 or
CC FBLN5 and a significant interaction with ELN seen only in the presence
CC of FBLN2 or FBLN5 (PubMed:17255108). Interacts (via N-terminal domain)
CC with LTBP2 (via C-terminal domain) in a Ca(+2)-dependent manner
CC (PubMed:17293099). Interacts (via N-terminal domain) with LTBP1 (via C-
CC terminal domain) (PubMed:17293099). Interacts with integrins
CC ITGA5:ITGB1, ITGAV:ITGB3 and ITGAV:ITGB6 (PubMed:17158881,
CC PubMed:12807887). Interacts (via N-terminal domain) with BMP2, BMP4,
CC BMP7, BMP10 and GDF5 (PubMed:18339631). Interacts (via N-terminal
CC domain) with MFAP2 and MFAP5 (PubMed:15131124). Interacts with ADAMTSL5
CC (PubMed:23010571). Interacts with MFAP4 (PubMed:26601954). Interacts
CC (via N-terminal domain) with TNFSF11 in a Ca(+2)-dependent manner
CC (PubMed:24039232). Interacts (via N-terminal domain) with EFEMP2; this
CC interaction inhibits EFEMP2 binding to LOX and ELN (PubMed:17255108,
CC PubMed:19349279, PubMed:19570982). {ECO:0000250|UniProtKB:Q61554,
CC ECO:0000269|PubMed:12807887, ECO:0000269|PubMed:15062093,
CC ECO:0000269|PubMed:15131124, ECO:0000269|PubMed:15165854,
CC ECO:0000269|PubMed:15790312, ECO:0000269|PubMed:17158881,
CC ECO:0000269|PubMed:17255108, ECO:0000269|PubMed:17293099,
CC ECO:0000269|PubMed:18339631, ECO:0000269|PubMed:19349279,
CC ECO:0000269|PubMed:19570982, ECO:0000269|PubMed:21402694,
CC ECO:0000269|PubMed:23010571, ECO:0000269|PubMed:24039232,
CC ECO:0000269|PubMed:26601954}.
CC -!- INTERACTION:
CC P35555; O95967: EFEMP2; NbExp=3; IntAct=EBI-2505934, EBI-743414;
CC P35555; Q9UBX5: FBLN5; NbExp=3; IntAct=EBI-2505934, EBI-947897;
CC P35555; P35555: FBN1; NbExp=6; IntAct=EBI-2505934, EBI-2505934;
CC P35555; P35556: FBN2; NbExp=2; IntAct=EBI-2505934, EBI-6164392;
CC P35555; P02751: FN1; NbExp=2; IntAct=EBI-2505934, EBI-1220319;
CC P35555; Q7L5D6: GET4; NbExp=3; IntAct=EBI-2505934, EBI-711823;
CC P35555; O14964: HGS; NbExp=3; IntAct=EBI-2505934, EBI-740220;
CC P35555; P28300: LOX; NbExp=2; IntAct=EBI-2505934, EBI-3893481;
CC P35555; Q14766-2: LTBP1; NbExp=2; IntAct=EBI-2505934, EBI-11173832;
CC P35555; Q96EQ0: SGTB; NbExp=3; IntAct=EBI-2505934, EBI-744081;
CC -!- SUBCELLULAR LOCATION: Secreted {ECO:0000269|PubMed:24982166,
CC ECO:0000269|PubMed:34411563}. Note=Fibrillin-1 and Asprosin chains are
CC still linked together during the secretion from cells, but are
CC subsequently separated by furin (PubMed:24982166).
CC {ECO:0000269|PubMed:24982166}.
CC -!- SUBCELLULAR LOCATION: [Fibrillin-1]: Secreted, extracellular space,
CC extracellular matrix {ECO:0000269|PubMed:11461921,
CC ECO:0000269|PubMed:24982166}.
CC -!- SUBCELLULAR LOCATION: [Asprosin]: Secreted
CC {ECO:0000269|PubMed:27087445}. Note=Secreted by white adipose tissue
CC and circulates in the plasma. {ECO:0000269|PubMed:27087445}.
CC -!- INDUCTION: [Asprosin]: Asprosin levels are elevated in patients with
CC type II diabetes and metabolic syndrome (at protein level).
CC {ECO:0000269|PubMed:29104036, ECO:0000269|PubMed:31775140}.
CC -!- PTM: Cleavage of N- and C-terminus by furin is required for
CC incorporation into the extracellular matrix and assembly into
CC microfibrils (PubMed:27026396). The C-terminus, which corresponds to
CC the Asprosin chain, was initially thought to constitute a propeptide
CC (PubMed:24982166). Fibrillin-1 and Asprosin chains are still linked
CC together during the secretion from cells, but are subsequently
CC separated by furin, an essential step for incorporation of Fibrillin-1
CC into the nascent microfibrils (PubMed:24982166).
CC {ECO:0000269|PubMed:10636927, ECO:0000269|PubMed:24982166,
CC ECO:0000303|PubMed:27026396}.
CC -!- PTM: [Fibrillin-1]: Forms intermolecular disulfide bonds either with
CC other fibrillin-1 molecules or with other components of the
CC microfibrils. {ECO:0000269|PubMed:9362480}.
CC -!- PTM: O-glycosylated on serine residues by POGLUT2 and POGLUT3 which is
CC necessary for efficient protein secretion.
CC {ECO:0000269|PubMed:34411563}.
CC -!- DISEASE: Marfan syndrome (MFS) [MIM:154700]: A hereditary disorder of
CC connective tissue that affects the skeletal, ocular, and cardiovascular
CC systems. A wide variety of skeletal abnormalities occurs with Marfan
CC syndrome, including scoliosis, chest wall deformity, tall stature,
CC abnormal joint mobility. Ectopia lentis occurs in most of the patients
CC and is almost always bilateral. The leading cause of premature death is
CC progressive dilation of the aortic root and ascending aorta, causing
CC aortic incompetence and dissection. Neonatal Marfan syndrome is the
CC most severe form resulting in death from cardiorespiratory failure in
CC the first few years of life. {ECO:0000269|PubMed:10425041,
CC ECO:0000269|PubMed:10441597, ECO:0000269|PubMed:10694921,
CC ECO:0000269|PubMed:11700157, ECO:0000269|PubMed:11826022,
CC ECO:0000269|PubMed:12161601, ECO:0000269|PubMed:12203992,
CC ECO:0000269|PubMed:12402346, ECO:0000269|PubMed:1301946,
CC ECO:0000269|PubMed:14695540, ECO:0000269|PubMed:15161917,
CC ECO:0000269|PubMed:15221638, ECO:0000269|PubMed:1569206,
CC ECO:0000269|PubMed:16220557, ECO:0000269|PubMed:16222657,
CC ECO:0000269|PubMed:17657824, ECO:0000269|PubMed:18435798,
CC ECO:0000269|PubMed:1852208, ECO:0000269|PubMed:19533785,
CC ECO:0000269|PubMed:19941982, ECO:0000269|PubMed:20803651,
CC ECO:0000269|PubMed:21542060, ECO:0000269|PubMed:22772377,
CC ECO:0000269|PubMed:7611299, ECO:0000269|PubMed:7738200,
CC ECO:0000269|PubMed:7762551, ECO:0000269|PubMed:7870075,
CC ECO:0000269|PubMed:7951214, ECO:0000269|PubMed:7977366,
CC ECO:0000269|PubMed:8004112, ECO:0000269|PubMed:8040326,
CC ECO:0000269|PubMed:8071963, ECO:0000269|PubMed:8136837,
CC ECO:0000269|PubMed:8281141, ECO:0000269|PubMed:8406497,
CC ECO:0000269|PubMed:8504310, ECO:0000269|PubMed:8863159,
CC ECO:0000269|PubMed:8882780, ECO:0000269|PubMed:9016526,
CC ECO:0000269|PubMed:9254848, ECO:0000269|PubMed:9338581,
CC ECO:0000269|PubMed:9401003, ECO:0000269|PubMed:9452085,
CC ECO:0000269|PubMed:9837823, ECO:0000269|Ref.76}. Note=The disease is
CC caused by variants affecting the gene represented in this entry. The
CC majority of the more than a thousand mutations in FBN1 currently known
CC are point mutations, the rest are frameshifts and splice site
CC mutations. Marfan syndrome has been suggested in at least 2 historical
CC figures, Abraham Lincoln and Paganini.
CC -!- DISEASE: Ectopia lentis 1, isolated, autosomal dominant (ECTOL1)
CC [MIM:129600]: An ocular abnormality characterized by partial or
CC complete displacement of the lens from its space resulting from
CC defective zonule formation. {ECO:0000269|PubMed:11700157,
CC ECO:0000269|PubMed:11826022, ECO:0000269|PubMed:12203992,
CC ECO:0000269|PubMed:17657824, ECO:0000269|PubMed:8188302}. Note=The
CC disease is caused by variants affecting the gene represented in this
CC entry.
CC -!- DISEASE: Weill-Marchesani syndrome 2 (WMS2) [MIM:608328]: A rare
CC connective tissue disorder characterized by short stature,
CC brachydactyly, joint stiffness, and eye abnormalities including
CC microspherophakia, ectopia lentis, severe myopia and glaucoma.
CC {ECO:0000269|PubMed:12525539}. Note=The disease is caused by variants
CC affecting the gene represented in this entry.
CC -!- DISEASE: Overlap connective tissue disease (OCTD) [MIM:604308]:
CC Heritable disorder of connective tissue characterized by involvement of
CC the mitral valve, aorta, skeleton, and skin. MASS syndrome is closely
CC resembling both the Marfan syndrome and the Barlow syndrome. However,
CC no dislocation of the lenses or aneurysmal changes occur in the aorta,
CC and the mitral valve prolapse is by no means invariable.
CC {ECO:0000269|PubMed:2739055}. Note=The disease is caused by variants
CC affecting the gene represented in this entry.
CC -!- DISEASE: Stiff skin syndrome (SSKS) [MIM:184900]: A syndrome
CC characterized by hard, thick skin, usually over the entire body, which
CC limits joint mobility and causes flexion contractures. Other occasional
CC findings include lipodystrophy and muscle weakness.
CC {ECO:0000269|PubMed:20375004}. Note=The disease is caused by variants
CC affecting the gene represented in this entry.
CC -!- DISEASE: Geleophysic dysplasia 2 (GPHYSD2) [MIM:614185]: An autosomal
CC dominant disorder characterized by severe short stature, short hands
CC and feet, joint limitations, and skin thickening. Radiologic features
CC include delayed bone age, cone-shaped epiphyses, shortened long tubular
CC bones, and ovoid vertebral bodies. Affected individuals have
CC characteristic facial features including a 'happy' face with full
CC cheeks, shortened nose, hypertelorism, long and flat philtrum, and thin
CC upper lip. Other distinctive features include progressive cardiac
CC valvular thickening often leading to an early death, toe walking,
CC tracheal stenosis, respiratory insufficiency, and lysosomal-like
CC storage vacuoles in various tissues. {ECO:0000269|PubMed:21683322}.
CC Note=The disease is caused by variants affecting the gene represented
CC in this entry.
CC -!- DISEASE: Acromicric dysplasia (ACMICD) [MIM:102370]: An autosomal
CC dominant disorder characterized by severe short stature, short hands
CC and feet, joint limitations, and skin thickening. Radiologic features
CC include delayed bone age, cone-shaped epiphyses, shortened long tubular
CC bones, and ovoid vertebral bodies. Affected individuals have distinct
CC facial features, including round face, well-defined eyebrows, long
CC eyelashes, bulbous nose with anteverted nostrils, long and prominent
CC philtrum, and thick lips with a small mouth. Other characteristic
CC features include hoarse voice and pseudomuscular build, and there are
CC distinct skeletal features as well, including an internal notch of the
CC femoral head, internal notch of the second metacarpal, and external
CC notch of the fifth metacarpal. {ECO:0000269|PubMed:21683322}. Note=The
CC disease is caused by variants affecting the gene represented in this
CC entry.
CC -!- DISEASE: [Asprosin]: Marfanoid-progeroid-lipodystrophy syndrome (MFLS)
CC [MIM:616914]: An autosomal dominant syndrome characterized by
CC congenital lipodystrophy, a progeroid facial appearance due to lack of
CC subcutaneous fat, and variable signs of Marfan syndrome. Clinical
CC features include premature birth with an accelerated linear growth
CC disproportionate to the weight gain, ectopia lentis, aortic dilatation,
CC dural ectasia, and arachnodactyly. Mental and motor development are
CC within normal limits. {ECO:0000269|PubMed:20979188,
CC ECO:0000269|PubMed:21594992, ECO:0000269|PubMed:21594993,
CC ECO:0000269|PubMed:24039054, ECO:0000269|PubMed:24613577,
CC ECO:0000269|PubMed:24665001, ECO:0000269|PubMed:26860060,
CC ECO:0000269|PubMed:27087445}. Note=The disease is caused by variants
CC affecting the gene represented in this entry.
CC -!- BIOTECHNOLOGY: [Asprosin]: Attractive therapeutic target for type II
CC diabetes and metabolic syndrome. {ECO:0000269|PubMed:33904407}.
CC -!- MISCELLANEOUS: [Asprosin]: Was named after the Greek word for white,
CC because of the reduction in subcutaneous white adipose tissue that is
CC displayed by asprosin-deficient patients.
CC {ECO:0000303|PubMed:27087445}.
CC -!- SIMILARITY: Belongs to the fibrillin family. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=CAA45118.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};
CC ---------------------------------------------------------------------------
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DR EMBL; L13923; AAB02036.1; -; mRNA.
DR EMBL; AB177803; BAD16739.1; -; Genomic_DNA.
DR EMBL; GU143398; ACZ58372.1; -; Genomic_DNA.
DR EMBL; AC022467; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC084757; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC084758; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471082; EAW77354.1; -; Genomic_DNA.
DR EMBL; BC146854; AAI46855.1; -; mRNA.
DR EMBL; L19896; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; X63556; CAA45118.1; ALT_INIT; mRNA.
DR EMBL; X62008; -; NOT_ANNOTATED_CDS; mRNA.
DR EMBL; S54426; AAB25244.1; -; Genomic_DNA.
DR EMBL; S54425; AAB25244.1; JOINED; Genomic_DNA.
DR CCDS; CCDS32232.1; -.
DR PIR; A47221; A47221.
DR RefSeq; NP_000129.3; NM_000138.4.
DR PDB; 1APJ; NMR; -; A=2052-2125.
DR PDB; 1EMN; NMR; -; A=2124-2205.
DR PDB; 1EMO; NMR; -; A=2124-2205.
DR PDB; 1LMJ; NMR; -; A=1069-1154.
DR PDB; 1UZJ; X-ray; 2.25 A; A/B/C=1486-1647.
DR PDB; 1UZK; X-ray; 1.35 A; A=1486-1647.
DR PDB; 1UZP; X-ray; 1.78 A; A=1486-1647.
DR PDB; 1UZQ; X-ray; 2.40 A; A=1486-1647.
DR PDB; 2M74; NMR; -; A=45-178.
DR PDB; 2W86; X-ray; 1.80 A; A=807-951.
DR PDB; 5MS9; NMR; -; A=113-287.
DR PDBsum; 1APJ; -.
DR PDBsum; 1EMN; -.
DR PDBsum; 1EMO; -.
DR PDBsum; 1LMJ; -.
DR PDBsum; 1UZJ; -.
DR PDBsum; 1UZK; -.
DR PDBsum; 1UZP; -.
DR PDBsum; 1UZQ; -.
DR PDBsum; 2M74; -.
DR PDBsum; 2W86; -.
DR PDBsum; 5MS9; -.
DR BMRB; P35555; -.
DR SASBDB; P35555; -.
DR SMR; P35555; -.
DR BioGRID; 108494; 25.
DR CORUM; P35555; -.
DR DIP; DIP-29985N; -.
DR ELM; P35555; -.
DR IntAct; P35555; 34.
DR MINT; P35555; -.
DR STRING; 9606.ENSP00000325527; -.
DR GlyConnect; 1235; 62 N-Linked glycans (12 sites).
DR GlyGen; P35555; 19 sites, 68 N-linked glycans (12 sites), 1 O-linked glycan (1 site).
DR iPTMnet; P35555; -.
DR PhosphoSitePlus; P35555; -.
DR SwissPalm; P35555; -.
DR BioMuta; FBN1; -.
DR DMDM; 311033452; -.
DR EPD; P35555; -.
DR jPOST; P35555; -.
DR MassIVE; P35555; -.
DR MaxQB; P35555; -.
DR PaxDb; P35555; -.
DR PeptideAtlas; P35555; -.
DR PRIDE; P35555; -.
DR ProteomicsDB; 55081; -.
DR Antibodypedia; 2908; 513 antibodies from 37 providers.
DR CPTC; P35555; 3 antibodies.
DR DNASU; 2200; -.
DR Ensembl; ENST00000316623.10; ENSP00000325527.5; ENSG00000166147.15.
DR GeneID; 2200; -.
DR KEGG; hsa:2200; -.
DR MANE-Select; ENST00000316623.10; ENSP00000325527.5; NM_000138.5; NP_000129.3.
DR UCSC; uc001zwx.3; human.
DR CTD; 2200; -.
DR DisGeNET; 2200; -.
DR GeneCards; FBN1; -.
DR GeneReviews; FBN1; -.
DR HGNC; HGNC:3603; FBN1.
DR HPA; ENSG00000166147; Tissue enhanced (adipose tissue, placenta).
DR MalaCards; FBN1; -.
DR MIM; 102370; phenotype.
DR MIM; 129600; phenotype.
DR MIM; 134797; gene.
DR MIM; 154700; phenotype.
DR MIM; 184900; phenotype.
DR MIM; 604308; phenotype.
DR MIM; 608328; phenotype.
DR MIM; 614185; phenotype.
DR MIM; 616914; phenotype.
DR neXtProt; NX_P35555; -.
DR OpenTargets; ENSG00000166147; -.
DR Orphanet; 969; Acromicric dysplasia.
DR Orphanet; 91387; Familial thoracic aortic aneurysm and aortic dissection.
DR Orphanet; 2623; Geleophysic dysplasia.
DR Orphanet; 2084; Glaucoma-ectopia lentis-microspherophakia-stiff joints-short stature syndrome.
DR Orphanet; 1885; Isolated ectopia lentis.
DR Orphanet; 284963; Marfan syndrome type 1.
DR Orphanet; 284979; Neonatal Marfan syndrome.
DR Orphanet; 300382; Progeroid and marfanoid aspect-lipodystrophy syndrome.
DR Orphanet; 2462; Shprintzen-Goldberg syndrome.
DR Orphanet; 2833; Stiff skin syndrome.
DR Orphanet; 3449; Weill-Marchesani syndrome.
DR PharmGKB; PA28016; -.
DR VEuPathDB; HostDB:ENSG00000166147; -.
DR eggNOG; KOG1217; Eukaryota.
DR GeneTree; ENSGT00950000183158; -.
DR HOGENOM; CLU_000233_0_0_1; -.
DR InParanoid; P35555; -.
DR OMA; YLQGSAC; -.
DR OrthoDB; 807790at2759; -.
DR PhylomeDB; P35555; -.
DR TreeFam; TF316849; -.
DR PathwayCommons; P35555; -.
DR Reactome; R-HSA-1474228; Degradation of the extracellular matrix.
DR Reactome; R-HSA-1566948; Elastic fibre formation.
DR Reactome; R-HSA-2129379; Molecules associated with elastic fibres.
DR Reactome; R-HSA-216083; Integrin cell surface interactions.
DR Reactome; R-HSA-2173789; TGF-beta receptor signaling activates SMADs.
DR Reactome; R-HSA-381426; Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs).
DR Reactome; R-HSA-8957275; Post-translational protein phosphorylation.
DR SignaLink; P35555; -.
DR SIGNOR; P35555; -.
DR BioGRID-ORCS; 2200; 8 hits in 1077 CRISPR screens.
DR ChiTaRS; FBN1; human.
DR EvolutionaryTrace; P35555; -.
DR GeneWiki; FBN1; -.
DR GenomeRNAi; 2200; -.
DR Pharos; P35555; Tbio.
DR PRO; PR:P35555; -.
DR Proteomes; UP000005640; Chromosome 15.
DR RNAct; P35555; protein.
DR Bgee; ENSG00000166147; Expressed in synovial joint and 191 other tissues.
DR ExpressionAtlas; P35555; baseline and differential.
DR Genevisible; P35555; HS.
DR GO; GO:0005604; C:basement membrane; IDA:UniProtKB.
DR GO; GO:0062023; C:collagen-containing extracellular matrix; HDA:UniProtKB.
DR GO; GO:0005788; C:endoplasmic reticulum lumen; TAS:Reactome.
DR GO; GO:0031012; C:extracellular matrix; IDA:UniProtKB.
DR GO; GO:0005576; C:extracellular region; IDA:UniProtKB.
DR GO; GO:0005615; C:extracellular space; IDA:UniProtKB.
DR GO; GO:0001527; C:microfibril; IDA:UniProtKB.
DR GO; GO:0005509; F:calcium ion binding; IDA:UniProtKB.
DR GO; GO:0030023; F:extracellular matrix constituent conferring elasticity; IC:UniProtKB.
DR GO; GO:0005201; F:extracellular matrix structural constituent; IDA:UniProtKB.
DR GO; GO:0008201; F:heparin binding; IDA:UniProtKB.
DR GO; GO:0005179; F:hormone activity; IDA:UniProtKB.
DR GO; GO:0042802; F:identical protein binding; IPI:IntAct.
DR GO; GO:0005178; F:integrin binding; IPI:UniProtKB.
DR GO; GO:0044877; F:protein-containing complex binding; IPI:UniProtKB.
DR GO; GO:0034199; P:activation of protein kinase A activity; IDA:UniProtKB.
DR GO; GO:0009653; P:anatomical structure morphogenesis; IBA:GO_Central.
DR GO; GO:0043010; P:camera-type eye development; IEP:UniProtKB.
DR GO; GO:0033627; P:cell adhesion mediated by integrin; IDA:UniProtKB.
DR GO; GO:1990314; P:cellular response to insulin-like growth factor stimulus; IEA:Ensembl.
DR GO; GO:0071560; P:cellular response to transforming growth factor beta stimulus; IEA:Ensembl.
DR GO; GO:0048048; P:embryonic eye morphogenesis; IEP:UniProtKB.
DR GO; GO:0042593; P:glucose homeostasis; IDA:UniProtKB.
DR GO; GO:0006006; P:glucose metabolic process; IDA:UniProtKB.
DR GO; GO:0007507; P:heart development; IMP:UniProtKB.
DR GO; GO:0001656; P:metanephros development; IEA:Ensembl.
DR GO; GO:2001205; P:negative regulation of osteoclast development; IDA:UniProtKB.
DR GO; GO:0045671; P:negative regulation of osteoclast differentiation; IDA:UniProtKB.
DR GO; GO:0032100; P:positive regulation of appetite; ISS:UniProtKB.
DR GO; GO:0048050; P:post-embryonic eye morphogenesis; IEP:UniProtKB.
DR GO; GO:0010737; P:protein kinase A signaling; IDA:UniProtKB.
DR GO; GO:0035582; P:sequestering of BMP in extracellular matrix; ISS:BHF-UCL.
DR GO; GO:0035583; P:sequestering of TGFbeta in extracellular matrix; ISS:BHF-UCL.
DR GO; GO:0001501; P:skeletal system development; IMP:UniProtKB.
DR Gene3D; 3.90.290.10; -; 9.
DR InterPro; IPR026823; cEGF.
DR InterPro; IPR001881; EGF-like_Ca-bd_dom.
DR InterPro; IPR000742; EGF-like_dom.
DR InterPro; IPR000152; EGF-type_Asp/Asn_hydroxyl_site.
DR InterPro; IPR018097; EGF_Ca-bd_CS.
DR InterPro; IPR024731; EGF_dom.
DR InterPro; IPR011398; FBN.
DR InterPro; IPR040872; Fibrillin_U_N.
DR InterPro; IPR009030; Growth_fac_rcpt_cys_sf.
DR InterPro; IPR017878; TB_dom.
DR InterPro; IPR036773; TB_dom_sf.
DR PANTHER; PTHR24039:SF22; PTHR24039:SF22; 7.
DR Pfam; PF12662; cEGF; 2.
DR Pfam; PF12947; EGF_3; 1.
DR Pfam; PF07645; EGF_CA; 38.
DR Pfam; PF18193; Fibrillin_U_N; 1.
DR Pfam; PF00683; TB; 9.
DR SMART; SM00181; EGF; 47.
DR SMART; SM00179; EGF_CA; 44.
DR SUPFAM; SSF57184; SSF57184; 11.
DR SUPFAM; SSF57581; SSF57581; 9.
DR PROSITE; PS00010; ASX_HYDROXYL; 43.
DR PROSITE; PS00022; EGF_1; 2.
DR PROSITE; PS01186; EGF_2; 38.
DR PROSITE; PS50026; EGF_3; 45.
DR PROSITE; PS01187; EGF_CA; 43.
DR PROSITE; PS51364; TB; 9.
PE 1: Evidence at protein level;
KW 3D-structure; Aortic aneurysm; Calcium; Direct protein sequencing;
KW Disease variant; Disulfide bond; Dwarfism; EGF-like domain;
KW Extracellular matrix; Glycoprotein; Heparin-binding; Hormone;
KW Phosphoprotein; Reference proteome; Repeat; Secreted; Signal.
FT SIGNAL 1..24
FT /evidence="ECO:0000269|PubMed:10636927"
FT PROPEP 25..44
FT /evidence="ECO:0000269|PubMed:10636927"
FT /id="PRO_0000436881"
FT CHAIN 45..2731
FT /note="Fibrillin-1"
FT /evidence="ECO:0000305|PubMed:10636927,
FT ECO:0000305|PubMed:24982166"
FT /id="PRO_0000007581"
FT CHAIN 2732..2871
FT /note="Asprosin"
FT /evidence="ECO:0000305|PubMed:27087445,
FT ECO:0000305|PubMed:9817919"
FT /id="PRO_0000436882"
FT DOMAIN 81..112
FT /note="EGF-like 1"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT DOMAIN 115..146
FT /note="EGF-like 2"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT DOMAIN 147..178
FT /note="EGF-like 3"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT DOMAIN 184..236
FT /note="TB 1"
FT DOMAIN 246..287
FT /note="EGF-like 4; calcium-binding"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT DOMAIN 288..329
FT /note="EGF-like 5; calcium-binding"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT DOMAIN 334..389
FT /note="TB 2"
FT DOMAIN 449..489
FT /note="EGF-like 6"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT DOMAIN 490..529
FT /note="EGF-like 7; calcium-binding"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT DOMAIN 530..571
FT /note="EGF-like 8; calcium-binding"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT DOMAIN 572..612
FT /note="EGF-like 9; calcium-binding"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT DOMAIN 613..653
FT /note="EGF-like 10; calcium-binding"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT DOMAIN 659..711
FT /note="TB 3"
FT DOMAIN 723..764
FT /note="EGF-like 11; calcium-binding"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT DOMAIN 765..806
FT /note="EGF-like 12; calcium-binding"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT DOMAIN 807..846
FT /note="EGF-like 13; calcium-binding"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT DOMAIN 851..902
FT /note="TB 4"
FT DOMAIN 910..951
FT /note="EGF-like 14; calcium-binding"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT DOMAIN 956..1008
FT /note="TB 5"
FT DOMAIN 1028..1069
FT /note="EGF-like 15; calcium-binding"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT DOMAIN 1070..1112
FT /note="EGF-like 16; calcium-binding"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT DOMAIN 1113..1154
FT /note="EGF-like 17; calcium-binding"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT DOMAIN 1155..1196
FT /note="EGF-like 18; calcium-binding"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT DOMAIN 1197..1237
FT /note="EGF-like 19; calcium-binding"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT DOMAIN 1238..1279
FT /note="EGF-like 20; calcium-binding"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT DOMAIN 1280..1321
FT /note="EGF-like 21; calcium-binding"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT DOMAIN 1322..1362
FT /note="EGF-like 22; calcium-binding"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT DOMAIN 1363..1403
FT /note="EGF-like 23; calcium-binding"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT DOMAIN 1404..1445
FT /note="EGF-like 24; calcium-binding"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT DOMAIN 1446..1486
FT /note="EGF-like 25; calcium-binding"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT DOMAIN 1487..1527
FT /note="EGF-like 26; calcium-binding"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT DOMAIN 1532..1589
FT /note="TB 6"
FT DOMAIN 1606..1647
FT /note="EGF-like 27; calcium-binding"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT DOMAIN 1648..1688
FT /note="EGF-like 28; calcium-binding"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT DOMAIN 1693..1748
FT /note="TB 7"
FT DOMAIN 1766..1807
FT /note="EGF-like 29; calcium-binding"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT DOMAIN 1808..1848
FT /note="EGF-like 30; calcium-binding"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT DOMAIN 1849..1890
FT /note="EGF-like 31; calcium-binding"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT DOMAIN 1891..1929
FT /note="EGF-like 32; calcium-binding"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT DOMAIN 1930..1972
FT /note="EGF-like 33; calcium-binding"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT DOMAIN 1973..2012
FT /note="EGF-like 34; calcium-binding"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT DOMAIN 2013..2054
FT /note="EGF-like 35; calcium-binding"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT DOMAIN 2059..2111
FT /note="TB 8"
FT DOMAIN 2127..2165
FT /note="EGF-like 36; calcium-binding"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT DOMAIN 2166..2205
FT /note="EGF-like 37; calcium-binding"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT DOMAIN 2206..2246
FT /note="EGF-like 38; calcium-binding"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT DOMAIN 2247..2290
FT /note="EGF-like 39; calcium-binding"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT DOMAIN 2291..2332
FT /note="EGF-like 40; calcium-binding"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT DOMAIN 2337..2390
FT /note="TB 9"
FT DOMAIN 2402..2443
FT /note="EGF-like 41; calcium-binding"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT DOMAIN 2444..2484
FT /note="EGF-like 42; calcium-binding"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT DOMAIN 2485..2523
FT /note="EGF-like 43; calcium-binding"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT DOMAIN 2524..2566
FT /note="EGF-like 44; calcium-binding"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT DOMAIN 2567..2606
FT /note="EGF-like 45; calcium-binding"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT DOMAIN 2607..2647
FT /note="EGF-like 46; calcium-binding"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT DOMAIN 2648..2687
FT /note="EGF-like 47; calcium-binding"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT REGION 45..450
FT /note="N-terminal domain"
FT /evidence="ECO:0000269|PubMed:11461921"
FT REGION 45..81
FT /note="Fibrillin unique N-terminal (FUN) domain"
FT /evidence="ECO:0000305|PubMed:24035709"
FT REGION 119..329
FT /note="Interaction with MFAP4"
FT /evidence="ECO:0000269|PubMed:26601954"
FT REGION 195..221
FT /note="Hybrid domain 1"
FT /evidence="ECO:0000305|PubMed:19446531"
FT REGION 862..887
FT /note="Hybrid domain 2"
FT /evidence="ECO:0000305|PubMed:19446531"
FT REGION 1528..2731
FT /note="C-terminal domain"
FT /evidence="ECO:0000269|PubMed:11461921"
FT REGION 2726..2746
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOTIF 1541..1543
FT /note="Cell attachment site"
FT /evidence="ECO:0000269|PubMed:12807887"
FT SITE 44..45
FT /note="Cleavage; by furin"
FT /evidence="ECO:0000305|PubMed:10636927"
FT SITE 2731..2732
FT /note="Cleavage; by furin"
FT /evidence="ECO:0000269|PubMed:24982166,
FT ECO:0000269|PubMed:9817919"
FT MOD_RES 2702
FT /note="Phosphoserine; by FAM20C"
FT /evidence="ECO:0000269|PubMed:26091039,
FT ECO:0007744|PubMed:24275569"
FT MOD_RES 2709
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:Q61554"
FT CARBOHYD 268
FT /note="O-linked (Glc) serine"
FT /evidence="ECO:0000269|PubMed:34411563"
FT CARBOHYD 448
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000269|PubMed:19159218"
FT CARBOHYD 471
FT /note="O-linked (Glc) serine"
FT /evidence="ECO:0000269|PubMed:34411563"
FT CARBOHYD 510
FT /note="O-linked (Glc) serine"
FT /evidence="ECO:0000269|PubMed:34411563"
FT CARBOHYD 552
FT /note="O-linked (Glc) serine"
FT /evidence="ECO:0000269|PubMed:34411563"
FT CARBOHYD 593
FT /note="O-linked (Glc) serine"
FT /evidence="ECO:0000269|PubMed:34411563"
FT CARBOHYD 634
FT /note="O-linked (Glc) serine"
FT /evidence="ECO:0000269|PubMed:34411563"
FT CARBOHYD 787
FT /note="O-linked (Glc) serine"
FT /evidence="ECO:0000269|PubMed:34411563"
FT CARBOHYD 827
FT /note="O-linked (Glc) serine"
FT /evidence="ECO:0000269|PubMed:34411563"
FT CARBOHYD 1050
FT /note="O-linked (Glc) serine"
FT /evidence="ECO:0000269|PubMed:34411563"
FT CARBOHYD 1067
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000269|PubMed:19159218"
FT CARBOHYD 1135
FT /note="O-linked (Glc) serine"
FT /evidence="ECO:0000269|PubMed:34411563"
FT CARBOHYD 1149
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 1218
FT /note="O-linked (Glc) serine"
FT /evidence="ECO:0000269|PubMed:34411563"
FT CARBOHYD 1302
FT /note="O-linked (Glc) serine"
FT /evidence="ECO:0000269|PubMed:34411563"
FT CARBOHYD 1345
FT /note="O-linked (Glc) serine"
FT /evidence="ECO:0000269|PubMed:34411563"
FT CARBOHYD 1369
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 1386
FT /note="O-linked (Glc) serine"
FT /evidence="ECO:0000269|PubMed:34411563"
FT CARBOHYD 1484
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000269|PubMed:19159218"
FT CARBOHYD 1508
FT /note="O-linked (Glc) serine"
FT /evidence="ECO:0000269|PubMed:34411563"
FT CARBOHYD 1581
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000269|PubMed:19159218"
FT CARBOHYD 1628
FT /note="O-linked (Glc) serine"
FT /evidence="ECO:0000269|PubMed:34411563"
FT CARBOHYD 1669
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 1703
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 1713
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 1830
FT /note="O-linked (Glc) serine"
FT /evidence="ECO:0000269|PubMed:34411563"
FT CARBOHYD 1871
FT /note="O-linked (Glc) serine"
FT /evidence="ECO:0000269|PubMed:34411563"
FT CARBOHYD 1902
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 1911
FT /note="O-linked (Glc) serine"
FT /evidence="ECO:0000269|PubMed:34411563"
FT CARBOHYD 1953
FT /note="O-linked (Glc) serine"
FT /evidence="ECO:0000269|PubMed:34411563"
FT CARBOHYD 2035
FT /note="O-linked (Glc) serine"
FT /evidence="ECO:0000269|PubMed:34411563"
FT CARBOHYD 2077
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 2148
FT /note="O-linked (Glc) serine"
FT /evidence="ECO:0000269|PubMed:34411563"
FT CARBOHYD 2178
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 2227
FT /note="O-linked (Glc) serine"
FT /evidence="ECO:0000269|PubMed:34411563"
FT CARBOHYD 2313
FT /note="O-linked (Glc) serine"
FT /evidence="ECO:0000269|PubMed:34411563"
FT CARBOHYD 2465
FT /note="O-linked (Glc) serine"
FT /evidence="ECO:0000269|PubMed:34411563"
FT CARBOHYD 2547
FT /note="O-linked (Glc) serine"
FT /evidence="ECO:0000269|PubMed:34411563"
FT CARBOHYD 2628
FT /note="O-linked (Glc) serine"
FT /evidence="ECO:0000269|PubMed:34411563"
FT CARBOHYD 2734
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 2750
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 2767
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT DISULFID 59..68
FT /evidence="ECO:0000269|PubMed:24035709"
FT DISULFID 67..80
FT /evidence="ECO:0000269|PubMed:24035709"
FT DISULFID 85..94
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076,
FT ECO:0000269|PubMed:24035709"
FT DISULFID 89..100
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076,
FT ECO:0000269|PubMed:24035709"
FT DISULFID 102..111
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076,
FT ECO:0000269|PubMed:24035709"
FT DISULFID 119..129
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076,
FT ECO:0000269|PubMed:24035709"
FT DISULFID 123..134
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076,
FT ECO:0000269|PubMed:24035709"
FT DISULFID 136..145
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076,
FT ECO:0000269|PubMed:24035709"
FT DISULFID 150..160
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076,
FT ECO:0000269|PubMed:24035709"
FT DISULFID 154..166
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076,
FT ECO:0000269|PubMed:24035709"
FT DISULFID 168..177
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076,
FT ECO:0000269|PubMed:24035709"
FT DISULFID 250..262
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT DISULFID 257..271
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT DISULFID 273..286
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT DISULFID 292..304
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT DISULFID 299..313
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT DISULFID 315..328
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT DISULFID 453..465
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT DISULFID 460..474
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT DISULFID 476..488
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT DISULFID 494..504
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT DISULFID 499..513
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT DISULFID 515..528
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT DISULFID 534..546
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT DISULFID 541..555
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT DISULFID 557..570
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT DISULFID 576..587
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT DISULFID 582..596
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT DISULFID 598..611
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT DISULFID 617..628
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT DISULFID 623..637
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT DISULFID 639..652
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT DISULFID 727..739
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT DISULFID 734..748
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT DISULFID 750..763
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT DISULFID 769..781
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT DISULFID 776..790
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT DISULFID 792..805
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT DISULFID 811..821
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076,
FT ECO:0000269|PubMed:19446531"
FT DISULFID 816..830
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076,
FT ECO:0000269|PubMed:19446531"
FT DISULFID 832..845
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076,
FT ECO:0000269|PubMed:19446531"
FT DISULFID 853..875
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076,
FT ECO:0000269|PubMed:19446531"
FT DISULFID 862..887
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076,
FT ECO:0000269|PubMed:19446531"
FT DISULFID 876..890
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076,
FT ECO:0000269|PubMed:19446531"
FT DISULFID 896..908
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076,
FT ECO:0000269|PubMed:19446531"
FT DISULFID 914..926
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076,
FT ECO:0000269|PubMed:19446531"
FT DISULFID 921..935
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076,
FT ECO:0000269|PubMed:19446531"
FT DISULFID 937..950
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076,
FT ECO:0000269|PubMed:19446531"
FT DISULFID 1032..1044
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT DISULFID 1039..1053
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT DISULFID 1055..1068
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT DISULFID 1074..1086
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076,
FT ECO:0000269|PubMed:12511552"
FT DISULFID 1081..1095
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076,
FT ECO:0000269|PubMed:12511552"
FT DISULFID 1097..1111
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076,
FT ECO:0000269|PubMed:12511552"
FT DISULFID 1117..1129
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076,
FT ECO:0000269|PubMed:12511552"
FT DISULFID 1124..1138
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076,
FT ECO:0000269|PubMed:12511552"
FT DISULFID 1140..1153
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT DISULFID 1159..1171
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT DISULFID 1166..1180
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT DISULFID 1182..1195
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT DISULFID 1201..1212
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT DISULFID 1208..1221
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT DISULFID 1223..1236
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT DISULFID 1242..1254
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT DISULFID 1249..1263
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT DISULFID 1265..1278
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT DISULFID 1284..1296
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT DISULFID 1291..1305
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT DISULFID 1307..1320
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT DISULFID 1326..1339
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT DISULFID 1333..1348
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT DISULFID 1350..1361
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT DISULFID 1367..1380
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT DISULFID 1374..1389
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT DISULFID 1391..1402
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT DISULFID 1408..1420
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT DISULFID 1415..1429
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT DISULFID 1431..1444
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT DISULFID 1450..1461
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT DISULFID 1456..1470
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT DISULFID 1472..1485
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT DISULFID 1491..1502
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076,
FT ECO:0000269|PubMed:15062093"
FT DISULFID 1497..1511
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076,
FT ECO:0000269|PubMed:15062093"
FT DISULFID 1513..1526
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076,
FT ECO:0000269|PubMed:15062093"
FT DISULFID 1534..1562
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076,
FT ECO:0000269|PubMed:15062093"
FT DISULFID 1549..1574
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076,
FT ECO:0000269|PubMed:15062093"
FT DISULFID 1563..1577
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076,
FT ECO:0000269|PubMed:15062093"
FT DISULFID 1564..1589
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076,
FT ECO:0000269|PubMed:15062093"
FT DISULFID 1610..1622
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076,
FT ECO:0000269|PubMed:15062093"
FT DISULFID 1617..1631
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076,
FT ECO:0000269|PubMed:15062093"
FT DISULFID 1633..1646
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076,
FT ECO:0000269|PubMed:15062093"
FT DISULFID 1652..1663
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT DISULFID 1658..1672
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT DISULFID 1674..1687
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT DISULFID 1770..1782
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT DISULFID 1777..1791
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT DISULFID 1793..1806
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT DISULFID 1812..1824
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT DISULFID 1818..1833
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT DISULFID 1835..1847
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT DISULFID 1853..1865
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT DISULFID 1860..1874
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT DISULFID 1876..1889
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT DISULFID 1895..1905
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT DISULFID 1900..1914
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT DISULFID 1916..1928
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT DISULFID 1934..1947
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT DISULFID 1942..1956
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT DISULFID 1958..1971
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT DISULFID 1977..1989
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT DISULFID 1984..1998
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT DISULFID 2000..2011
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT DISULFID 2017..2029
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT DISULFID 2024..2038
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT DISULFID 2040..2053
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT DISULFID 2061..2083
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076,
FT ECO:0000269|PubMed:9362480"
FT DISULFID 2070..2096
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076,
FT ECO:0000269|PubMed:9362480"
FT DISULFID 2084..2099
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076,
FT ECO:0000269|PubMed:9362480"
FT DISULFID 2085..2111
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076,
FT ECO:0000269|PubMed:9362480"
FT DISULFID 2131..2142
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT DISULFID 2137..2151
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT DISULFID 2153..2164
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT DISULFID 2170..2181
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT DISULFID 2176..2190
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT DISULFID 2192..2204
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT DISULFID 2210..2221
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT DISULFID 2217..2230
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT DISULFID 2232..2245
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT DISULFID 2251..2265
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT DISULFID 2258..2274
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT DISULFID 2276..2289
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT DISULFID 2295..2307
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT DISULFID 2302..2316
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT DISULFID 2318..2331
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT DISULFID 2406..2418
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT DISULFID 2413..2427
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT DISULFID 2429..2442
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT DISULFID 2448..2459
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT DISULFID 2455..2468
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT DISULFID 2470..2483
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT DISULFID 2489..2500
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT DISULFID 2496..2509
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT DISULFID 2511..2522
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT DISULFID 2528..2541
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT DISULFID 2535..2550
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT DISULFID 2552..2565
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT DISULFID 2571..2581
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT DISULFID 2577..2590
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT DISULFID 2592..2605
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT DISULFID 2611..2622
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT DISULFID 2617..2631
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT DISULFID 2633..2646
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT DISULFID 2652..2663
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT DISULFID 2659..2672
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT DISULFID 2674..2686
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT VARIANT 20
FT /note="Y -> C (in MFS; dbSNP:rs201309310)"
FT /evidence="ECO:0000269|PubMed:16222657"
FT /id="VAR_023859"
FT VARIANT 27
FT /note="A -> T (in dbSNP:rs25397)"
FT /id="VAR_014663"
FT VARIANT 39
FT /note="A -> P (probable disease-associated variant found in
FT a patient with Marfan-like syndrome)"
FT /evidence="ECO:0000269|PubMed:18435798"
FT /id="VAR_075984"
FT VARIANT 55
FT /note="G -> E (in MFS)"
FT /evidence="ECO:0000269|PubMed:22772377"
FT /id="VAR_075985"
FT VARIANT 57
FT /note="N -> D (in MFS)"
FT /evidence="ECO:0000269|PubMed:19533785"
FT /id="VAR_075986"
FT VARIANT 62
FT /note="R -> C (in MFS; also in a patient with ectopia
FT lentis and retinal detachment; dbSNP:rs25403)"
FT /evidence="ECO:0000269|PubMed:12203992"
FT /id="VAR_017967"
FT VARIANT 63
FT /note="Y -> C (in ECTOL1; dbSNP:rs1303389437)"
FT /evidence="ECO:0000269|PubMed:17657824"
FT /id="VAR_075987"
FT VARIANT 68
FT /note="C -> S (in ECTOL1; dbSNP:rs113604459)"
FT /evidence="ECO:0000269|PubMed:17657824"
FT /id="VAR_075988"
FT VARIANT 80
FT /note="C -> G (in MFS; dbSNP:rs111764111)"
FT /evidence="ECO:0000269|PubMed:21542060"
FT /id="VAR_065981"
FT VARIANT 89
FT /note="C -> F (in MFS; dbSNP:rs112660651)"
FT /evidence="ECO:0000269|PubMed:11700157"
FT /id="VAR_017968"
FT VARIANT 100
FT /note="C -> Y (in MFS; dbSNP:rs397515782)"
FT /evidence="ECO:0000269|PubMed:19533785"
FT /id="VAR_075989"
FT VARIANT 111
FT /note="C -> R (in MFS)"
FT /evidence="ECO:0000269|PubMed:9338581"
FT /id="VAR_002276"
FT VARIANT 114
FT /note="R -> C (in MFS)"
FT /evidence="ECO:0000269|PubMed:11826022"
FT /id="VAR_017969"
FT VARIANT 115
FT /note="S -> C (in ECTOL1)"
FT /evidence="ECO:0000269|PubMed:12203992"
FT /id="VAR_017970"
FT VARIANT 122
FT /note="R -> C (in MFS; dbSNP:rs137854467)"
FT /evidence="ECO:0000269|PubMed:11700157,
FT ECO:0000269|PubMed:17657824, ECO:0000269|PubMed:8040326,
FT ECO:0000269|PubMed:9452085"
FT /id="VAR_002277"
FT VARIANT 123
FT /note="C -> Y (in MFS; dbSNP:rs397515794)"
FT /evidence="ECO:0000269|PubMed:16222657,
FT ECO:0000269|PubMed:18435798"
FT /id="VAR_023860"
FT VARIANT 127
FT /note="G -> D (probable disease-associated variant found in
FT a patient with Marfan-like syndrome; dbSNP:rs1566935524)"
FT /evidence="ECO:0000269|PubMed:17657824"
FT /id="VAR_075990"
FT VARIANT 129
FT /note="C -> Y (in MFS; severe neonatal;
FT dbSNP:rs1566935517)"
FT /evidence="ECO:0000269|PubMed:19533785,
FT ECO:0000269|PubMed:7611299"
FT /id="VAR_002278"
FT VARIANT 133
FT /note="H -> Q (in dbSNP:rs363850)"
FT /id="VAR_055723"
FT VARIANT 136
FT /note="C -> S (in MFS; dbSNP:rs1555405041)"
FT /evidence="ECO:0000269|PubMed:18435798"
FT /id="VAR_075991"
FT VARIANT 154
FT /note="C -> S (in MFS; dbSNP:rs1057521103)"
FT /evidence="ECO:0000269|PubMed:14695540"
FT /id="VAR_017971"
FT VARIANT 160
FT /note="C -> R (probable disease-associated variant found in
FT a patient with Marfan-like syndrome; dbSNP:rs1057518973)"
FT /evidence="ECO:0000269|PubMed:17657824"
FT /id="VAR_075992"
FT VARIANT 164
FT /note="N -> S (probable disease-associated variant found in
FT a patient with Marfan-like syndrome; dbSNP:rs749490298)"
FT /evidence="ECO:0000269|PubMed:17657824"
FT /id="VAR_075993"
FT VARIANT 166
FT /note="C -> F (in MFS)"
FT /evidence="ECO:0000269|PubMed:7611299"
FT /id="VAR_002279"
FT VARIANT 166
FT /note="C -> S (in MFS; dbSNP:rs397515818 and
FT dbSNP:rs363852)"
FT /evidence="ECO:0000269|PubMed:14695540"
FT /id="VAR_002280"
FT VARIANT 177
FT /note="C -> R (in MFS; dbSNP:rs363853)"
FT /evidence="ECO:0000269|PubMed:16222657"
FT /id="VAR_023861"
FT VARIANT 177
FT /note="C -> S (in MFS)"
FT /evidence="ECO:0000269|PubMed:18435798"
FT /id="VAR_075994"
FT VARIANT 177
FT /note="C -> Y (in MFS; dbSNP:rs113695103)"
FT /evidence="ECO:0000269|PubMed:18435798"
FT /id="VAR_075995"
FT VARIANT 214
FT /note="G -> S (in MFS; dbSNP:rs794728162)"
FT /evidence="ECO:0000269|PubMed:17657824,
FT ECO:0000269|PubMed:18435798"
FT /id="VAR_075996"
FT VARIANT 215..2871
FT /note="Missing (probable disease-associated variant found
FT in a patient with Marfan-like syndrome)"
FT /evidence="ECO:0000269|PubMed:17657824"
FT /id="VAR_075997"
FT VARIANT 217
FT /note="W -> G (in MFS; dbSNP:rs193922224)"
FT /evidence="ECO:0000269|PubMed:7977366,
FT ECO:0000269|PubMed:8136837"
FT /id="VAR_002281"
FT VARIANT 219
FT /note="H -> Q (in MFS; dbSNP:rs774754863)"
FT /evidence="ECO:0000269|PubMed:22772377"
FT /id="VAR_075998"
FT VARIANT 224
FT /note="C -> R (in MFS; dbSNP:rs1555401676)"
FT /evidence="ECO:0000269|PubMed:16222657"
FT /id="VAR_023862"
FT VARIANT 240
FT /note="R -> C (in MFS and ECTOL1; dbSNP:rs137854480)"
FT /evidence="ECO:0000269|PubMed:11700157,
FT ECO:0000269|PubMed:11826022, ECO:0000269|PubMed:14695540,
FT ECO:0000269|PubMed:17657824"
FT /id="VAR_017972"
FT VARIANT 248..2871
FT /note="Missing (in MFS)"
FT /evidence="ECO:0000269|PubMed:17657824"
FT /id="VAR_075999"
FT VARIANT 329
FT /note="I -> T (in dbSNP:rs12324002)"
FT /id="VAR_055724"
FT VARIANT 348..2871
FT /note="Missing (in MFS)"
FT /evidence="ECO:0000269|PubMed:18435798"
FT /id="VAR_076000"
FT VARIANT 351..2871
FT /note="Missing (in MFS)"
FT /evidence="ECO:0000269|PubMed:17657824"
FT /id="VAR_076001"
FT VARIANT 363
FT /note="G -> S (in dbSNP:rs363855)"
FT /id="VAR_055725"
FT VARIANT 364..2871
FT /note="Missing (probable disease-associated variant found
FT in a patient with Marfan-like syndrome)"
FT /evidence="ECO:0000269|PubMed:17657824"
FT /id="VAR_076002"
FT VARIANT 365
FT /note="C -> R (in MFS)"
FT /evidence="ECO:0000269|PubMed:17657824"
FT /id="VAR_076003"
FT VARIANT 365
FT /note="C -> W (in ECTOL1)"
FT /evidence="ECO:0000269|PubMed:17657824"
FT /id="VAR_076004"
FT VARIANT 366..2871
FT /note="Missing (in MFS)"
FT /evidence="ECO:0000269|PubMed:17657824"
FT /id="VAR_076005"
FT VARIANT 366
FT /note="W -> C (in MFS; dbSNP:rs1555400595)"
FT /evidence="ECO:0000269|PubMed:11700157"
FT /id="VAR_017973"
FT VARIANT 429..2871
FT /note="Missing (in MFS)"
FT /evidence="ECO:0000269|PubMed:12402346,
FT ECO:0000269|PubMed:18435798"
FT /id="VAR_076006"
FT VARIANT 439
FT /note="R -> G (in MFS)"
FT /evidence="ECO:0000269|PubMed:16222657"
FT /id="VAR_023863"
FT VARIANT 449
FT /note="V -> I (in MFS; dbSNP:rs139058991)"
FT /evidence="ECO:0000269|PubMed:12402346"
FT /id="VAR_076007"
FT VARIANT 472
FT /note="Y -> C (in dbSNP:rs4775765)"
FT /evidence="ECO:0000269|PubMed:15221638"
FT /id="VAR_058090"
FT VARIANT 474
FT /note="C -> W (in MFS; dbSNP:rs1555400378)"
FT /evidence="ECO:0000269|PubMed:17657824"
FT /id="VAR_076008"
FT VARIANT 476
FT /note="C -> G (in MFS; dbSNP:rs794728326)"
FT /evidence="ECO:0000269|PubMed:7951214"
FT /id="VAR_002282"
FT VARIANT 488
FT /note="C -> R (in MFS; dbSNP:rs1555400373)"
FT /evidence="ECO:0000269|PubMed:18435798"
FT /id="VAR_076009"
FT VARIANT 490
FT /note="D -> Y (in MFS; dbSNP:rs1555400371)"
FT /evidence="ECO:0000269|PubMed:21542060"
FT /id="VAR_002283"
FT VARIANT 499
FT /note="C -> Y (in MFS; dbSNP:rs587782944)"
FT /evidence="ECO:0000269|PubMed:21542060"
FT /id="VAR_065982"
FT VARIANT 504
FT /note="C -> F (in MFS; dbSNP:rs1156747241)"
FT /evidence="ECO:0000269|PubMed:10425041"
FT /id="VAR_010776"
FT VARIANT 504
FT /note="C -> R (probable disease-associated variant found in
FT a patient with Marfan-like syndrome; dbSNP:rs1555400288)"
FT /evidence="ECO:0000269|PubMed:17657824"
FT /id="VAR_076010"
FT VARIANT 507
FT /note="Missing (in MFS)"
FT /evidence="ECO:0000269|PubMed:16220557"
FT /id="VAR_023864"
FT VARIANT 515..516
FT /note="CR -> WG (in MFS)"
FT /evidence="ECO:0000269|PubMed:19941982"
FT /id="VAR_080327"
FT VARIANT 541
FT /note="C -> Y (in MFS)"
FT /evidence="ECO:0000269|PubMed:16220557"
FT /id="VAR_023865"
FT VARIANT 545
FT /note="R -> C (in MFS and ECTOL1; dbSNP:rs730880099)"
FT /evidence="ECO:0000269|PubMed:11700157,
FT ECO:0000269|PubMed:17657824, ECO:0000269|PubMed:9338581"
FT /id="VAR_002284"
FT VARIANT 546
FT /note="C -> W (in MFS)"
FT /evidence="ECO:0000269|PubMed:17657824"
FT /id="VAR_076011"
FT VARIANT 548
FT /note="N -> I (in MFS; dbSNP:rs137854462)"
FT /evidence="ECO:0000269|PubMed:8406497"
FT /id="VAR_002285"
FT VARIANT 560
FT /note="G -> S (in MFS; dbSNP:rs1064794283)"
FT /evidence="ECO:0000269|PubMed:11700157"
FT /id="VAR_017974"
FT VARIANT 565..2871
FT /note="Missing (in MFS)"
FT /evidence="ECO:0000269|PubMed:17657824"
FT /id="VAR_076012"
FT VARIANT 570
FT /note="C -> Y (in MFS; dbSNP:rs1555400049)"
FT /evidence="ECO:0000269|PubMed:11700157"
FT /id="VAR_017975"
FT VARIANT 576
FT /note="C -> Y (in MFS; dbSNP:rs1555399974)"
FT /evidence="ECO:0000269|PubMed:18435798"
FT /id="VAR_076013"
FT VARIANT 582
FT /note="C -> R (in MFS)"
FT /evidence="ECO:0000269|PubMed:18435798"
FT /id="VAR_076014"
FT VARIANT 587
FT /note="C -> Y (in MFS; dbSNP:rs1555399963)"
FT /evidence="ECO:0000269|PubMed:12203992,
FT ECO:0000269|PubMed:9254848"
FT /id="VAR_002286"
FT VARIANT 592
FT /note="G -> D (in MFS; dbSNP:rs1555399959)"
FT /evidence="ECO:0000269|PubMed:11700157"
FT /id="VAR_017976"
FT VARIANT 596
FT /note="C -> R (in ECTOL1)"
FT /evidence="ECO:0000269|PubMed:17657824"
FT /id="VAR_076015"
FT VARIANT 596
FT /note="C -> Y (in MFS)"
FT /evidence="ECO:0000269|PubMed:12203992"
FT /id="VAR_017977"
FT VARIANT 598
FT /note="C -> W (in MFS; dbSNP:rs1555399954)"
FT /evidence="ECO:0000269|PubMed:11700157"
FT /id="VAR_017978"
FT VARIANT 611
FT /note="C -> R (in MFS; dbSNP:rs1555399944)"
FT /evidence="ECO:0000269|PubMed:21542060"
FT /id="VAR_065983"
FT VARIANT 617
FT /note="C -> G (in MFS; dbSNP:rs1060501017)"
FT /evidence="ECO:0000269|PubMed:21542060"
FT /id="VAR_065984"
FT VARIANT 623
FT /note="C -> F (in MFS; dbSNP:rs1566914030)"
FT /evidence="ECO:0000269|PubMed:18435798"
FT /id="VAR_076016"
FT VARIANT 627
FT /note="R -> C (in MFS; enhances proteolytic degradation;
FT dbSNP:rs727503057)"
FT /evidence="ECO:0000269|PubMed:12161601,
FT ECO:0000269|PubMed:15161917, ECO:0000269|PubMed:16220557,
FT ECO:0000269|PubMed:8004112, ECO:0000269|PubMed:9338581"
FT /id="VAR_002287"
FT VARIANT 629..633
FT /note="Missing (in MFS)"
FT /evidence="ECO:0000269|PubMed:16222657"
FT /id="VAR_023867"
FT VARIANT 634
FT /note="S -> P (in ECTOL1; dbSNP:rs1566914005)"
FT /evidence="ECO:0000269|PubMed:17657824"
FT /id="VAR_076017"
FT VARIANT 635
FT /note="Y -> C (in MFS; dbSNP:rs1555399816)"
FT /evidence="ECO:0000269|PubMed:16222657,
FT ECO:0000269|PubMed:18435798"
FT /id="VAR_023868"
FT VARIANT 636
FT /note="R -> I (in MFS)"
FT /evidence="ECO:0000269|PubMed:16222657"
FT /id="VAR_023869"
FT VARIANT 652
FT /note="C -> S (in MFS)"
FT /evidence="ECO:0000269|PubMed:14695540"
FT /id="VAR_017979"
FT VARIANT 652
FT /note="C -> Y (probable disease-associated variant found in
FT a patient with Marfan-like syndrome)"
FT /evidence="ECO:0000269|PubMed:17657824"
FT /id="VAR_076018"
FT VARIANT 653..2871
FT /note="Missing (probable disease-associated variant found
FT in a patient with Marfan-like syndrome)"
FT /evidence="ECO:0000269|PubMed:17657824"
FT /id="VAR_076019"
FT VARIANT 654
FT /note="D -> N (in MFS)"
FT /evidence="ECO:0000269|PubMed:12161601,
FT ECO:0000269|PubMed:12203992"
FT /id="VAR_017980"
FT VARIANT 661
FT /note="C -> R (in MFS)"
FT /evidence="ECO:0000269|PubMed:9016526"
FT /id="VAR_002288"
FT VARIANT 661
FT /note="C -> Y (in ECTOL1; patient presenting also mitral
FT valve prolapse; dbSNP:rs1060501086)"
FT /evidence="ECO:0000269|PubMed:12203992"
FT /id="VAR_017981"
FT VARIANT 681
FT /note="S -> Y (in MFS; dbSNP:rs1555399766)"
FT /evidence="ECO:0000269|PubMed:12203992"
FT /id="VAR_017982"
FT VARIANT 683
FT /note="C -> R (in MFS)"
FT /evidence="ECO:0000269|PubMed:12203992"
FT /id="VAR_017983"
FT VARIANT 684
FT /note="C -> Y (in MFS)"
FT /evidence="ECO:0000269|PubMed:18435798"
FT /id="VAR_076020"
FT VARIANT 685
FT /note="C -> W (in MFS; dbSNP:rs140603)"
FT /evidence="ECO:0000269|PubMed:12203992,
FT ECO:0000269|PubMed:21542060"
FT /id="VAR_017984"
FT VARIANT 685
FT /note="C -> Y (in MFS; dbSNP:rs1555399761)"
FT /evidence="ECO:0000269|PubMed:21542060"
FT /id="VAR_065985"
FT VARIANT 699
FT /note="C -> S (in MFS)"
FT /evidence="ECO:0000269|PubMed:22772377"
FT /id="VAR_076021"
FT VARIANT 705
FT /note="A -> T (in MFS)"
FT /evidence="ECO:0000269|PubMed:14695540,
FT ECO:0000269|PubMed:8863159"
FT /id="VAR_002289"
FT VARIANT 711
FT /note="C -> Y (in MFS)"
FT /evidence="ECO:0000269|PubMed:14695540,
FT ECO:0000269|PubMed:8863159"
FT /id="VAR_002290"
FT VARIANT 721
FT /note="G -> C (in MFS)"
FT /evidence="ECO:0000269|PubMed:18435798"
FT /id="VAR_076022"
FT VARIANT 723
FT /note="D -> A (in MFS; dbSNP:rs137854463)"
FT /evidence="ECO:0000269|PubMed:8406497"
FT /id="VAR_002291"
FT VARIANT 723
FT /note="D -> V (in MFS)"
FT /evidence="ECO:0000269|PubMed:12203992"
FT /id="VAR_017985"
FT VARIANT 727
FT /note="C -> Y (in MFS; dbSNP:rs1555399381)"
FT /evidence="ECO:0000269|PubMed:17657824"
FT /id="VAR_076023"
FT VARIANT 734
FT /note="C -> F (in MFS; dbSNP:rs794728187)"
FT /evidence="ECO:0000269|PubMed:12203992"
FT /id="VAR_017986"
FT VARIANT 746
FT /note="Y -> C (in MFS; dbSNP:rs1555399372)"
FT /evidence="ECO:0000269|PubMed:7611299"
FT /id="VAR_002292"
FT VARIANT 748
FT /note="C -> Y (in MFS; dbSNP:rs1064794282)"
FT /evidence="ECO:0000269|PubMed:12161601,
FT ECO:0000269|PubMed:12203992"
FT /id="VAR_017987"
FT VARIANT 750
FT /note="C -> G (in MFS; enhances proteolytic degradation)"
FT /evidence="ECO:0000269|PubMed:15161917,
FT ECO:0000269|PubMed:9338581"
FT /id="VAR_002293"
FT VARIANT 752..2871
FT /note="Missing (probable disease-associated variant found
FT in a patient with Marfan-like syndrome)"
FT /evidence="ECO:0000269|PubMed:17657824"
FT /id="VAR_076024"
FT VARIANT 776
FT /note="C -> G (in MFS)"
FT /evidence="ECO:0000269|PubMed:12203992"
FT /id="VAR_017988"
FT VARIANT 776
FT /note="C -> Y (in MFS; dbSNP:rs1555399273)"
FT /evidence="ECO:0000269|PubMed:11700157"
FT /id="VAR_017989"
FT VARIANT 781
FT /note="C -> R (in MFS; dbSNP:rs397515766)"
FT /evidence="ECO:0000269|PubMed:11700157,
FT ECO:0000269|PubMed:12203992"
FT /id="VAR_017990"
FT VARIANT 781
FT /note="C -> Y (in MFS; dbSNP:rs1555399271)"
FT /evidence="ECO:0000269|PubMed:16220557"
FT /id="VAR_023870"
FT VARIANT 790
FT /note="C -> Y (in MFS; dbSNP:rs193922188)"
FT /evidence="ECO:0000269|PubMed:21542060"
FT /id="VAR_065986"
FT VARIANT 811
FT /note="C -> Y (in MFS; dbSNP:rs1555399210)"
FT /evidence="ECO:0000269|PubMed:21542060"
FT /id="VAR_065987"
FT VARIANT 816
FT /note="C -> R (in MFS; dbSNP:rs1555399206)"
FT /evidence="ECO:0000269|PubMed:18435798"
FT /id="VAR_076025"
FT VARIANT 816
FT /note="C -> S (in MFS; dbSNP:rs397515770)"
FT /evidence="ECO:0000269|PubMed:14695540"
FT /id="VAR_017991"
FT VARIANT 828
FT /note="F -> C (in MFS)"
FT /evidence="ECO:0000269|PubMed:17657824"
FT /id="VAR_076026"
FT VARIANT 832
FT /note="C -> Y (in MFS; dbSNP:rs397515775)"
FT /evidence="ECO:0000269|PubMed:16222657,
FT ECO:0000269|PubMed:17657824"
FT /id="VAR_023871"
FT VARIANT 853
FT /note="C -> S (in MFS; dbSNP:rs1555399165)"
FT /evidence="ECO:0000269|PubMed:21542060"
FT /id="VAR_065988"
FT VARIANT 861..2871
FT /note="Missing (in MFS)"
FT /evidence="ECO:0000269|PubMed:17657824,
FT ECO:0000269|PubMed:19533785"
FT /id="VAR_076027"
FT VARIANT 862
FT /note="C -> R (in MFS)"
FT /evidence="ECO:0000269|PubMed:8281141"
FT /id="VAR_002294"
FT VARIANT 880
FT /note="G -> S (in MFS; dbSNP:rs794728194)"
FT /evidence="ECO:0000269|PubMed:12402346,
FT ECO:0000269|PubMed:18435798, ECO:0000269|PubMed:22772377"
FT /id="VAR_076028"
FT VARIANT 882
FT /note="A -> V (in MFS and ECTOL1; dbSNP:rs794728195)"
FT /evidence="ECO:0000269|PubMed:17657824"
FT /id="VAR_076029"
FT VARIANT 884
FT /note="G -> E (in MFS; dbSNP:rs1555399149)"
FT /evidence="ECO:0000269|PubMed:18435798"
FT /id="VAR_076030"
FT VARIANT 890
FT /note="C -> G (in MFS)"
FT /evidence="ECO:0000269|PubMed:16222657"
FT /id="VAR_023872"
FT VARIANT 890
FT /note="C -> R (in MFS)"
FT /evidence="ECO:0000269|PubMed:11826022"
FT /id="VAR_017992"
FT VARIANT 908
FT /note="C -> R (in MFS; dbSNP:rs1060501021)"
FT /evidence="ECO:0000269|PubMed:12203992"
FT /id="VAR_017993"
FT VARIANT 908
FT /note="C -> Y (in MFS; dbSNP:rs1057523406)"
FT /evidence="ECO:0000269|PubMed:22772377"
FT /id="VAR_076031"
FT VARIANT 910
FT /note="D -> H (in MFS)"
FT /evidence="ECO:0000269|PubMed:19533785"
FT /id="VAR_076032"
FT VARIANT 913
FT /note="E -> G (in MFS; dbSNP:rs1555398995)"
FT /evidence="ECO:0000269|PubMed:11700157"
FT /id="VAR_017994"
FT VARIANT 921..2871
FT /note="Missing (in MFS)"
FT /evidence="ECO:0000269|PubMed:19533785"
FT /id="VAR_076033"
FT VARIANT 921
FT /note="C -> G (in MFS)"
FT /evidence="ECO:0000269|PubMed:12203992"
FT /id="VAR_017995"
FT VARIANT 926
FT /note="C -> R (in MFS; enhances proteolytic degradation)"
FT /evidence="ECO:0000269|PubMed:15161917,
FT ECO:0000269|PubMed:7611299"
FT /id="VAR_002295"
FT VARIANT 926
FT /note="C -> Y (in MFS; dbSNP:rs1555398989)"
FT /evidence="ECO:0000269|PubMed:21542060"
FT /id="VAR_065989"
FT VARIANT 937
FT /note="C -> R (probable disease-associated variant found in
FT a patient with Marfan-like syndrome)"
FT /evidence="ECO:0000269|PubMed:18435798"
FT /id="VAR_076034"
FT VARIANT 954
FT /note="R -> C (probable disease-associated variant found in
FT a patient with Marfan-like syndrome; dbSNP:rs1555398835)"
FT /evidence="ECO:0000269|PubMed:17657824"
FT /id="VAR_076035"
FT VARIANT 966..2871
FT /note="Missing (probable disease-associated variant found
FT in a patient with Marfan-like syndrome)"
FT /evidence="ECO:0000269|PubMed:17657824"
FT /id="VAR_076036"
FT VARIANT 974
FT /note="R -> C (in MFS; dbSNP:rs397514558)"
FT /evidence="ECO:0000269|PubMed:17657824"
FT /id="VAR_076037"
FT VARIANT 976
FT /note="R -> H (in MFS; dbSNP:rs140954477)"
FT /evidence="ECO:0000269|PubMed:17657824"
FT /id="VAR_076038"
FT VARIANT 984
FT /note="V -> I (in MFS; dbSNP:rs747713929)"
FT /evidence="ECO:0000269|PubMed:10694921"
FT /id="VAR_002296"
FT VARIANT 985
FT /note="G -> E (in MFS; atypical; dbSNP:rs137854477)"
FT /evidence="ECO:0000269|PubMed:10441597"
FT /id="VAR_018319"
FT VARIANT 985
FT /note="G -> R (in MFS; dbSNP:rs794728199)"
FT /evidence="ECO:0000269|PubMed:11700157,
FT ECO:0000269|PubMed:16220557"
FT /id="VAR_017996"
FT VARIANT 988..2871
FT /note="Missing (probable disease-associated variant found
FT in a patient with Marfan-like syndrome)"
FT /evidence="ECO:0000269|PubMed:17657824"
FT /id="VAR_076039"
FT VARIANT 994..2871
FT /note="Missing (in MFS)"
FT /evidence="ECO:0000269|PubMed:17657824"
FT /id="VAR_076040"
FT VARIANT 996
FT /note="C -> R (in MFS; dbSNP:rs140592)"
FT /evidence="ECO:0000269|PubMed:9401003"
FT /id="VAR_002297"
FT VARIANT 1008
FT /note="C -> Y (in MFS)"
FT /evidence="ECO:0000269|PubMed:18435798"
FT /id="VAR_076041"
FT VARIANT 1013
FT /note="G -> R (in MFS; severe neonatal; dbSNP:rs140593)"
FT /evidence="ECO:0000269|PubMed:11700157,
FT ECO:0000269|PubMed:14695540, ECO:0000269|PubMed:16220557,
FT ECO:0000269|PubMed:7611299"
FT /id="VAR_002298"
FT VARIANT 1020
FT /note="T -> A (probable disease-associated variant found in
FT a patient with Marfan-like syndrome; dbSNP:rs111801777)"
FT /evidence="ECO:0000269|PubMed:18435798"
FT /id="VAR_076042"
FT VARIANT 1023
FT /note="K -> N (in MFS; severe neonatal)"
FT /evidence="ECO:0000269|PubMed:8136837"
FT /id="VAR_002299"
FT VARIANT 1028
FT /note="D -> G (probable disease-associated variant found in
FT a patient with Marfan-like syndrome)"
FT /evidence="ECO:0000269|PubMed:17657824"
FT /id="VAR_076043"
FT VARIANT 1032
FT /note="C -> Y (in MFS; severe neonatal; dbSNP:rs137854481)"
FT /evidence="ECO:0000269|PubMed:17657824"
FT /id="VAR_076044"
FT VARIANT 1042
FT /note="G -> S (in MFS; dbSNP:rs1555398681)"
FT /evidence="ECO:0000269|PubMed:18435798"
FT /id="VAR_076045"
FT VARIANT 1043
FT /note="K -> R (in MFS; dbSNP:rs137854472)"
FT /evidence="ECO:0000269|PubMed:9016526"
FT /id="VAR_002300"
FT VARIANT 1044
FT /note="C -> Y (in MFS; dbSNP:rs730880100)"
FT /evidence="ECO:0000269|PubMed:14695540"
FT /id="VAR_017997"
FT VARIANT 1048
FT /note="I -> T (in MFS; severe neonatal;
FT dbSNP:rs1555398673)"
FT /evidence="ECO:0000269|PubMed:17657824,
FT ECO:0000269|PubMed:9401003"
FT /id="VAR_002301"
FT VARIANT 1048
FT /note="I -> V (in dbSNP:rs2229324)"
FT /id="VAR_055726"
FT VARIANT 1048
FT /note="Missing (in MFS)"
FT /evidence="ECO:0000269|PubMed:9401003"
FT /id="VAR_002302"
FT VARIANT 1053
FT /note="C -> R (in MFS)"
FT /evidence="ECO:0000269|PubMed:8882780"
FT /id="VAR_002303"
FT VARIANT 1055
FT /note="C -> G (in MFS; neonatal; dbSNP:rs1597564258)"
FT /evidence="ECO:0000269|PubMed:14695540,
FT ECO:0000269|PubMed:8863159"
FT /id="VAR_002304"
FT VARIANT 1055
FT /note="C -> W (in MFS; dbSNP:rs1060501040)"
FT /evidence="ECO:0000269|PubMed:11700157"
FT /id="VAR_017998"
FT VARIANT 1055
FT /note="C -> Y (in MFS; dbSNP:rs397515786)"
FT /evidence="ECO:0000269|PubMed:11700157"
FT /id="VAR_017999"
FT VARIANT 1058
FT /note="G -> D (in MFS; dbSNP:rs794728202)"
FT /evidence="ECO:0000269|PubMed:16222657"
FT /id="VAR_023873"
FT VARIANT 1058
FT /note="G -> GC (in MFS)"
FT /evidence="ECO:0000269|PubMed:9401003"
FT /id="VAR_002305"
FT VARIANT 1068
FT /note="C -> G (in MFS; neonatal form; dbSNP:rs1293095681)"
FT /evidence="ECO:0000269|PubMed:20803651"
FT /id="VAR_064503"
FT VARIANT 1072
FT /note="D -> G (in MFS)"
FT /evidence="ECO:0000269|PubMed:8882780"
FT /id="VAR_002306"
FT VARIANT 1073
FT /note="E -> K (in MFS; severe neonatal; dbSNP:rs137854478)"
FT /evidence="ECO:0000269|PubMed:7611299,
FT ECO:0000269|PubMed:8882780"
FT /id="VAR_002307"
FT VARIANT 1074
FT /note="C -> R (in MFS; severe neonatal; dbSNP:rs137854465)"
FT /evidence="ECO:0000269|PubMed:8136837,
FT ECO:0000269|PubMed:9338581"
FT /id="VAR_002308"
FT VARIANT 1074
FT /note="C -> Y (in MFS; severe neonatal;
FT dbSNP:rs1555398645)"
FT /evidence="ECO:0000269|PubMed:17657824"
FT /id="VAR_076046"
FT VARIANT 1086..2871
FT /note="Missing (in ECTOL1)"
FT /evidence="ECO:0000269|PubMed:17657824"
FT /id="VAR_076047"
FT VARIANT 1086
FT /note="C -> W (in MFS)"
FT /evidence="ECO:0000269|PubMed:9401003"
FT /id="VAR_002309"
FT VARIANT 1088
FT /note="N -> I (in MFS; severe neonatal)"
FT /evidence="ECO:0000269|PubMed:17657824"
FT /id="VAR_076048"
FT VARIANT 1090
FT /note="P -> S (in MFS; dbSNP:rs1555398633)"
FT /evidence="ECO:0000269|PubMed:21542060"
FT /id="VAR_065990"
FT VARIANT 1101
FT /note="Y -> C (in MFS; dbSNP:rs1555398625)"
FT /evidence="ECO:0000269|PubMed:11700157,
FT ECO:0000269|PubMed:12402346, ECO:0000269|PubMed:14695540"
FT /id="VAR_018000"
FT VARIANT 1113
FT /note="D -> G (in dbSNP:rs140597)"
FT /id="VAR_055727"
FT VARIANT 1113
FT /note="D -> V (in MFS)"
FT /evidence="ECO:0000269|PubMed:16220557"
FT /id="VAR_023874"
FT VARIANT 1117
FT /note="C -> G (in MFS)"
FT /evidence="ECO:0000269|PubMed:8882780"
FT /id="VAR_002310"
FT VARIANT 1117
FT /note="C -> R (in MFS)"
FT /evidence="ECO:0000269|PubMed:22772377"
FT /id="VAR_076049"
FT VARIANT 1117
FT /note="C -> Y (in MFS; dbSNP:rs137854470)"
FT /evidence="ECO:0000269|PubMed:14695540,
FT ECO:0000269|PubMed:8281141"
FT /id="VAR_002311"
FT VARIANT 1125..2871
FT /note="Missing (in MFS)"
FT /evidence="ECO:0000269|PubMed:17657824,
FT ECO:0000269|PubMed:18435798"
FT /id="VAR_076050"
FT VARIANT 1127
FT /note="G -> S (in MFS; mild form; dbSNP:rs137854468)"
FT /evidence="ECO:0000269|PubMed:7762551"
FT /id="VAR_002312"
FT VARIANT 1128
FT /note="V -> I (in a patient with mitral valve prolapse)"
FT /evidence="ECO:0000269|PubMed:11700157"
FT /id="VAR_018001"
FT VARIANT 1129
FT /note="C -> Y (in MFS; dbSNP:rs137854482)"
FT /evidence="ECO:0000269|PubMed:10425041"
FT /id="VAR_010777"
FT VARIANT 1130
FT /note="H -> P (in MFS)"
FT /evidence="ECO:0000269|PubMed:19533785"
FT /id="VAR_076051"
FT VARIANT 1131
FT /note="N -> Y (in dbSNP:rs137854473)"
FT /id="VAR_002313"
FT VARIANT 1136..2871
FT /note="Missing (in MFS)"
FT /evidence="ECO:0000269|PubMed:18435798"
FT /id="VAR_076052"
FT VARIANT 1137
FT /note="R -> P (in MFS; dbSNP:rs137854456)"
FT /evidence="ECO:0000269|PubMed:1852208,
FT ECO:0000269|PubMed:8281141"
FT /id="VAR_002314"
FT VARIANT 1138
FT /note="C -> Y (in MFS; dbSNP:rs397515791)"
FT /evidence="ECO:0000269|PubMed:17657824"
FT /id="VAR_076053"
FT VARIANT 1140..2871
FT /note="Missing (in MFS)"
FT /evidence="ECO:0000269|PubMed:17657824"
FT /id="VAR_076054"
FT VARIANT 1148
FT /note="P -> A (in dbSNP:rs140598)"
FT /evidence="ECO:0000269|PubMed:20547088,
FT ECO:0000269|PubMed:8281141, ECO:0000269|PubMed:8988160,
FT ECO:0000269|PubMed:9150726, ECO:0000269|PubMed:9338588"
FT /id="VAR_002315"
FT VARIANT 1153
FT /note="C -> S (in MFS)"
FT /evidence="ECO:0000269|PubMed:16222657"
FT /id="VAR_023875"
FT VARIANT 1153
FT /note="C -> Y (in MFS; severe; dbSNP:rs140599)"
FT /evidence="ECO:0000269|PubMed:14695540,
FT ECO:0000269|PubMed:8863159"
FT /id="VAR_002316"
FT VARIANT 1155
FT /note="D -> N (in MFS and ECTOL1; dbSNP:rs794728204)"
FT /evidence="ECO:0000269|PubMed:14695540,
FT ECO:0000269|PubMed:17657824"
FT /id="VAR_002317"
FT VARIANT 1158
FT /note="E -> G (in MFS; dbSNP:rs1597562926)"
FT /evidence="ECO:0000269|PubMed:17657824"
FT /id="VAR_076055"
FT VARIANT 1170
FT /note="R -> H (in MFS; dbSNP:rs137854475)"
FT /evidence="ECO:0000269|PubMed:17657824,
FT ECO:0000269|PubMed:7870075, ECO:0000269|PubMed:9338581"
FT /id="VAR_002318"
FT VARIANT 1171
FT /note="C -> W (in MFS; dbSNP:rs775417975)"
FT /evidence="ECO:0000269|PubMed:9338581"
FT /id="VAR_002319"
FT VARIANT 1173
FT /note="N -> K (in MFS)"
FT /evidence="ECO:0000269|PubMed:9338581"
FT /id="VAR_002320"
FT VARIANT 1182
FT /note="C -> W (in MFS)"
FT /evidence="ECO:0000269|PubMed:18435798"
FT /id="VAR_076056"
FT VARIANT 1185
FT /note="G -> D (in MFS; dbSNP:rs1555398512)"
FT /evidence="ECO:0000269|PubMed:21542060"
FT /id="VAR_065991"
FT VARIANT 1199
FT /note="D -> A (in MFS)"
FT /evidence="ECO:0000269|PubMed:22772377"
FT /id="VAR_076057"
FT VARIANT 1200
FT /note="E -> G (in MFS)"
FT /evidence="ECO:0000269|PubMed:11826022"
FT /id="VAR_018002"
FT VARIANT 1211
FT /note="Missing (in MFS)"
FT /evidence="ECO:0000269|PubMed:16222657"
FT /id="VAR_023876"
FT VARIANT 1219
FT /note="Y -> C (in MFS; dbSNP:rs1555398394)"
FT /evidence="ECO:0000269|PubMed:16222657"
FT /id="VAR_023877"
FT VARIANT 1223
FT /note="C -> R (in MFS; severe neonatal)"
FT /evidence="ECO:0000269|PubMed:17657824"
FT /id="VAR_076058"
FT VARIANT 1223
FT /note="C -> Y (in MFS; also found in a patient with
FT Shprintzen-Goldberg craniosynostosis syndrome;
FT dbSNP:rs137854469)"
FT /evidence="ECO:0000269|PubMed:8071963, ECO:0000269|Ref.76"
FT /id="VAR_002321"
FT VARIANT 1242
FT /note="C -> Y (in MFS; dbSNP:rs137854471)"
FT /evidence="ECO:0000269|PubMed:8136837"
FT /id="VAR_002322"
FT VARIANT 1249
FT /note="C -> R (in MFS)"
FT /evidence="ECO:0000269|PubMed:17657824"
FT /id="VAR_076059"
FT VARIANT 1249
FT /note="C -> S (in MFS; dbSNP:rs137854458)"
FT /evidence="ECO:0000269|PubMed:1301946"
FT /id="VAR_002323"
FT VARIANT 1261
FT /note="Y -> C (in MFS)"
FT /evidence="ECO:0000269|PubMed:10425041"
FT /id="VAR_010778"
FT VARIANT 1261
FT /note="Y -> D (in MFS)"
FT /evidence="ECO:0000269|PubMed:16222657"
FT /id="VAR_023878"
FT VARIANT 1265
FT /note="C -> R (in MFS; dbSNP:rs137854474)"
FT /evidence="ECO:0000269|PubMed:9837823"
FT /id="VAR_018320"
FT VARIANT 1265
FT /note="C -> Y (in MFS)"
FT /evidence="ECO:0000269|PubMed:18435798"
FT /id="VAR_076060"
FT VARIANT 1278
FT /note="C -> S (in MFS)"
FT /evidence="ECO:0000269|PubMed:16222657"
FT /id="VAR_023879"
FT VARIANT 1282
FT /note="N -> S (in dbSNP:rs140647)"
FT /id="VAR_055728"
FT VARIANT 1284
FT /note="C -> G (in MFS)"
FT /evidence="ECO:0000269|PubMed:16220557"
FT /id="VAR_023880"
FT VARIANT 1284
FT /note="C -> Y (in MFS; dbSNP:rs1555398173)"
FT /evidence="ECO:0000269|PubMed:21542060"
FT /id="VAR_065992"
FT VARIANT 1307
FT /note="C -> Y (in MFS; severe neonatal)"
FT /evidence="ECO:0000269|PubMed:17657824"
FT /id="VAR_076061"
FT VARIANT 1320
FT /note="C -> R (in MFS; dbSNP:rs1597558920)"
FT /evidence="ECO:0000269|PubMed:18435798"
FT /id="VAR_076062"
FT VARIANT 1325
FT /note="E -> Q (in MFS)"
FT /evidence="ECO:0000269|PubMed:14695540"
FT /id="VAR_018003"
FT VARIANT 1326
FT /note="C -> R (in MFS; severe neonatal)"
FT /evidence="ECO:0000269|PubMed:17657824"
FT /id="VAR_076063"
FT VARIANT 1333
FT /note="C -> S (in MFS)"
FT /evidence="ECO:0000269|PubMed:16222657"
FT /id="VAR_023881"
FT VARIANT 1337
FT /note="A -> P (in MFS; neonatal; dbSNP:rs753648789)"
FT /evidence="ECO:0000269|PubMed:11700157"
FT /id="VAR_018004"
FT VARIANT 1339
FT /note="C -> Y (in MFS; dbSNP:rs397515798)"
FT /evidence="ECO:0000269|PubMed:11700157"
FT /id="VAR_018005"
FT VARIANT 1346
FT /note="F -> L (in MFS)"
FT /evidence="ECO:0000269|PubMed:17657824"
FT /id="VAR_076064"
FT VARIANT 1350
FT /note="C -> F (in MFS; dbSNP:rs1555397718)"
FT /evidence="ECO:0000269|PubMed:21542060"
FT /id="VAR_065993"
FT VARIANT 1366
FT /note="E -> K (in MFS; dbSNP:rs763449629)"
FT /evidence="ECO:0000269|PubMed:14695540,
FT ECO:0000269|PubMed:17657824"
FT /id="VAR_018006"
FT VARIANT 1374
FT /note="C -> S (in MFS)"
FT /evidence="ECO:0000269|PubMed:14695540"
FT /id="VAR_018007"
FT VARIANT 1382
FT /note="N -> S (in MFS)"
FT /evidence="ECO:0000269|PubMed:7611299"
FT /id="VAR_002324"
FT VARIANT 1389
FT /note="C -> R (in MFS; dbSNP:rs193922203)"
FT /evidence="ECO:0000269|PubMed:14695540"
FT /id="VAR_018008"
FT VARIANT 1394..1396
FT /note="Missing (in MFS)"
FT /evidence="ECO:0000269|PubMed:14695540"
FT /id="VAR_018009"
FT VARIANT 1401
FT /note="T -> A (in MFS; dbSNP:rs1420739555)"
FT /evidence="ECO:0000269|PubMed:21542060"
FT /id="VAR_065994"
FT VARIANT 1402
FT /note="C -> R (in MFS)"
FT /evidence="ECO:0000269|PubMed:16222657"
FT /id="VAR_023882"
FT VARIANT 1402
FT /note="C -> Y (in MFS; dbSNP:rs1555397646)"
FT /evidence="ECO:0000269|PubMed:17657824"
FT /id="VAR_076065"
FT VARIANT 1404
FT /note="D -> Y (in MFS)"
FT /evidence="ECO:0000269|PubMed:9338581"
FT /id="VAR_002325"
FT VARIANT 1406
FT /note="D -> G (probable disease-associated variant found in
FT a patient with Marfan-like syndrome)"
FT /evidence="ECO:0000269|PubMed:17657824"
FT /id="VAR_076066"
FT VARIANT 1424
FT /note="P -> A (in MFS; dbSNP:rs201273753)"
FT /evidence="ECO:0000269|PubMed:14695540,
FT ECO:0000269|PubMed:17657824"
FT /id="VAR_018010"
FT VARIANT 1424
FT /note="P -> S (in MFS)"
FT /evidence="ECO:0000269|PubMed:16222657"
FT /id="VAR_023883"
FT VARIANT 1427
FT /note="Y -> D (in MFS)"
FT /evidence="ECO:0000269|PubMed:17657824"
FT /id="VAR_076067"
FT VARIANT 1429
FT /note="C -> S (in MFS; dbSNP:rs1555397546)"
FT /evidence="ECO:0000269|PubMed:11700157"
FT /id="VAR_018011"
FT VARIANT 1431
FT /note="C -> W (in MFS; dbSNP:rs112375043)"
FT /evidence="ECO:0000269|PubMed:21542060"
FT /id="VAR_065995"
FT VARIANT 1431
FT /note="C -> Y (in MFS; dbSNP:rs1555397540)"
FT /evidence="ECO:0000269|PubMed:21542060"
FT /id="VAR_065996"
FT VARIANT 1475
FT /note="G -> E (in MFS)"
FT /evidence="ECO:0000269|PubMed:16220557"
FT /id="VAR_023884"
FT VARIANT 1475
FT /note="G -> S (in MFS)"
FT /evidence="ECO:0000269|PubMed:16220557"
FT /id="VAR_023885"
FT VARIANT 1481
FT /note="S -> G (in dbSNP:rs61730054)"
FT /evidence="ECO:0000269|PubMed:21542060"
FT /id="VAR_065997"
FT VARIANT 1485
FT /note="C -> R (in MFS; dbSNP:rs730880101)"
FT /evidence="ECO:0000269|PubMed:17657824"
FT /id="VAR_076068"
FT VARIANT 1487
FT /note="D -> A (in MFS)"
FT /evidence="ECO:0000269|PubMed:21542060"
FT /id="VAR_065998"
FT VARIANT 1489
FT /note="N -> K (in MFS; dbSNP:rs193922205)"
FT /evidence="ECO:0000269|PubMed:21542060"
FT /id="VAR_065999"
FT VARIANT 1513
FT /note="C -> R (in MFS; dbSNP:rs112723282)"
FT /evidence="ECO:0000269|PubMed:8136837"
FT /id="VAR_002326"
FT VARIANT 1528
FT /note="D -> Y (in MFS)"
FT /evidence="ECO:0000269|PubMed:17657824"
FT /id="VAR_076069"
FT VARIANT 1530
FT /note="R -> C (in MFS and ECTOL1; dbSNP:rs111401431)"
FT /evidence="ECO:0000269|PubMed:11700157,
FT ECO:0000269|PubMed:14695540, ECO:0000269|PubMed:19941982"
FT /id="VAR_018012"
FT VARIANT 1534..2871
FT /note="Missing (in MFS)"
FT /evidence="ECO:0000269|PubMed:18435798"
FT /id="VAR_076070"
FT VARIANT 1539..2871
FT /note="Missing (in MFS)"
FT /evidence="ECO:0000269|PubMed:18435798,
FT ECO:0000269|PubMed:22772377"
FT /id="VAR_076071"
FT VARIANT 1541..2871
FT /note="Missing (in MFS)"
FT /evidence="ECO:0000269|PubMed:12161601,
FT ECO:0000269|PubMed:17657824, ECO:0000269|PubMed:18435798"
FT /id="VAR_076072"
FT VARIANT 1564
FT /note="C -> F (in MFS)"
FT /evidence="ECO:0000269|PubMed:16222657"
FT /id="VAR_023886"
FT VARIANT 1564
FT /note="C -> S (in SSKS; dbSNP:rs267606800)"
FT /evidence="ECO:0000269|PubMed:20375004"
FT /id="VAR_064046"
FT VARIANT 1564
FT /note="C -> Y (in MFS; dbSNP:rs267606800)"
FT /evidence="ECO:0000269|PubMed:14695540"
FT /id="VAR_018013"
FT VARIANT 1570
FT /note="W -> C (in SSKS; dbSNP:rs267606799)"
FT /evidence="ECO:0000269|PubMed:20375004"
FT /id="VAR_064047"
FT VARIANT 1576
FT /note="M -> T (in MFS; dbSNP:rs776625874)"
FT /evidence="ECO:0000269|PubMed:16220557"
FT /id="VAR_023887"
FT VARIANT 1577
FT /note="C -> G (in SSKS; dbSNP:rs267606801)"
FT /evidence="ECO:0000269|PubMed:20375004"
FT /id="VAR_064048"
FT VARIANT 1589
FT /note="C -> F (in MFS; dbSNP:rs1555397024)"
FT /evidence="ECO:0000269|PubMed:8281141"
FT /id="VAR_002327"
FT VARIANT 1594
FT /note="G -> D (in SSKS; dbSNP:rs267606798)"
FT /evidence="ECO:0000269|PubMed:20375004"
FT /id="VAR_064049"
FT VARIANT 1610
FT /note="C -> G (in MFS)"
FT /evidence="ECO:0000269|PubMed:9338581"
FT /id="VAR_002328"
FT VARIANT 1622
FT /note="C -> R (in MFS)"
FT /evidence="ECO:0000269|PubMed:17657824"
FT /id="VAR_076073"
FT VARIANT 1631
FT /note="C -> G (in MFS)"
FT /evidence="ECO:0000269|PubMed:16222657,
FT ECO:0000269|PubMed:18435798"
FT /id="VAR_023888"
FT VARIANT 1633
FT /note="C -> S (probable disease-associated variant found in
FT a patient with Marfan-like syndrome)"
FT /evidence="ECO:0000269|PubMed:17657824"
FT /id="VAR_076074"
FT VARIANT 1642
FT /note="D -> G (in MFS; dbSNP:rs1597546984)"
FT /evidence="ECO:0000269|PubMed:22772377"
FT /id="VAR_076075"
FT VARIANT 1644..2871
FT /note="Missing (probable disease-associated variant found
FT in a patient with Marfan-like syndrome)"
FT /evidence="ECO:0000269|PubMed:17657824"
FT /id="VAR_076076"
FT VARIANT 1663
FT /note="C -> R (in MFS; dbSNP:rs137854459)"
FT /evidence="ECO:0000269|PubMed:1301946"
FT /id="VAR_002329"
FT VARIANT 1663
FT /note="C -> Y (in MFS)"
FT /evidence="ECO:0000269|PubMed:16222657"
FT /id="VAR_023889"
FT VARIANT 1672
FT /note="C -> F (in dbSNP:rs140627)"
FT /id="VAR_055729"
FT VARIANT 1672
FT /note="C -> R (in MFS)"
FT /evidence="ECO:0000269|PubMed:18435798"
FT /id="VAR_076077"
FT VARIANT 1672
FT /note="C -> Y (in MFS; dbSNP:rs140627)"
FT /evidence="ECO:0000269|PubMed:18435798"
FT /id="VAR_076078"
FT VARIANT 1674
FT /note="C -> G (in MFS)"
FT /evidence="ECO:0000269|PubMed:18435798"
FT /id="VAR_076079"
FT VARIANT 1692..1699
FT /note="Missing (in WMS2)"
FT /evidence="ECO:0000269|PubMed:12525539"
FT /id="VAR_018014"
FT VARIANT 1692
FT /note="Missing (in ECTOL1)"
FT /evidence="ECO:0000269|PubMed:17657824"
FT /id="VAR_076080"
FT VARIANT 1696
FT /note="Y -> C (in GPHYSD2; dbSNP:rs387906625)"
FT /evidence="ECO:0000269|PubMed:21683322"
FT /id="VAR_066527"
FT VARIANT 1699
FT /note="Y -> C (in GPHYSD2 and ACMICD; dbSNP:rs387906622)"
FT /evidence="ECO:0000269|PubMed:21683322"
FT /id="VAR_066528"
FT VARIANT 1699
FT /note="Y -> D (in GPHYSD2)"
FT /evidence="ECO:0000269|PubMed:21683322"
FT /id="VAR_066529"
FT VARIANT 1700
FT /note="Y -> C (in ACMICD; dbSNP:rs387906626)"
FT /evidence="ECO:0000269|PubMed:21683322"
FT /id="VAR_066530"
FT VARIANT 1706
FT /note="C -> Y (in GPHYSD2)"
FT /evidence="ECO:0000269|PubMed:21683322"
FT /id="VAR_066531"
FT VARIANT 1714
FT /note="M -> R (in ACMICD)"
FT /evidence="ECO:0000269|PubMed:21683322"
FT /id="VAR_066532"
FT VARIANT 1719
FT /note="C -> W (in GPHYSD2)"
FT /evidence="ECO:0000269|PubMed:21683322"
FT /id="VAR_066533"
FT VARIANT 1720
FT /note="C -> Y (in MFS)"
FT /evidence="ECO:0000269|PubMed:17657824"
FT /id="VAR_076081"
FT VARIANT 1722
FT /note="S -> C (in ACMICD)"
FT /evidence="ECO:0000269|PubMed:21683322"
FT /id="VAR_066534"
FT VARIANT 1726
FT /note="G -> V (in ACMICD; dbSNP:rs1064797059)"
FT /evidence="ECO:0000269|PubMed:21683322"
FT /id="VAR_066535"
FT VARIANT 1728
FT /note="A -> T (in GPHYSD2 and ACMICD; dbSNP:rs387906624)"
FT /evidence="ECO:0000269|PubMed:21683322"
FT /id="VAR_066536"
FT VARIANT 1728
FT /note="A -> V (in GPHYSD2; dbSNP:rs1131691804)"
FT /evidence="ECO:0000269|PubMed:21683322"
FT /id="VAR_066537"
FT VARIANT 1733
FT /note="C -> Y (in GPHYSD2)"
FT /evidence="ECO:0000269|PubMed:21683322"
FT /id="VAR_066538"
FT VARIANT 1735..2871
FT /note="Missing (in MFS)"
FT /evidence="ECO:0000269|PubMed:18435798"
FT /id="VAR_076082"
FT VARIANT 1735
FT /note="Q -> QQ (in ACMICD)"
FT /evidence="ECO:0000269|PubMed:21683322"
FT /id="VAR_066539"
FT VARIANT 1750
FT /note="S -> R (in ACMICD; dbSNP:rs1131692052)"
FT /evidence="ECO:0000269|PubMed:21683322"
FT /id="VAR_066540"
FT VARIANT 1758
FT /note="D -> V (in ACMICD)"
FT /evidence="ECO:0000269|PubMed:21683322"
FT /id="VAR_066541"
FT VARIANT 1762
FT /note="G -> S (in GPHYSD2; dbSNP:rs387906623)"
FT /evidence="ECO:0000269|PubMed:21683322"
FT /id="VAR_066542"
FT VARIANT 1770
FT /note="C -> F (in MFS)"
FT /evidence="ECO:0000269|PubMed:14695540"
FT /id="VAR_018015"
FT VARIANT 1777
FT /note="C -> F (probable disease-associated variant found in
FT a patient with Marfan-like syndrome)"
FT /evidence="ECO:0000269|PubMed:17657824"
FT /id="VAR_076083"
FT VARIANT 1790..2871
FT /note="Missing (in MFS)"
FT /evidence="ECO:0000269|PubMed:19533785"
FT /id="VAR_076084"
FT VARIANT 1790
FT /note="R -> P (in MFS; dbSNP:rs1555396428)"
FT /evidence="ECO:0000269|PubMed:11700157,
FT ECO:0000269|PubMed:12203992"
FT /id="VAR_018016"
FT VARIANT 1791
FT /note="C -> R (in MFS; dbSNP:rs1555396427)"
FT /evidence="ECO:0000269|PubMed:16220557"
FT /id="VAR_023890"
FT VARIANT 1791
FT /note="C -> Y (in MFS; dbSNP:rs886038848)"
FT /evidence="ECO:0000269|PubMed:11700157"
FT /id="VAR_018017"
FT VARIANT 1793
FT /note="C -> W (in MFS)"
FT /evidence="ECO:0000269|PubMed:14695540"
FT /id="VAR_018018"
FT VARIANT 1793
FT /note="C -> Y (in MFS; dbSNP:rs1597540854)"
FT /evidence="ECO:0000269|PubMed:17657824"
FT /id="VAR_076085"
FT VARIANT 1796..2871
FT /note="Missing (probable disease-associated variant found
FT in a patient with Marfan-like syndrome)"
FT /evidence="ECO:0000269|PubMed:17657824"
FT /id="VAR_076086"
FT VARIANT 1796
FT /note="G -> E (in MFS)"
FT /evidence="ECO:0000269|PubMed:14695540"
FT /id="VAR_018019"
FT VARIANT 1796
FT /note="G -> V (in MFS)"
FT /evidence="ECO:0000269|PubMed:17657824"
FT /id="VAR_076087"
FT VARIANT 1806
FT /note="C -> S (in MFS)"
FT /evidence="ECO:0000269|PubMed:12203992,
FT ECO:0000269|PubMed:17657824"
FT /id="VAR_018020"
FT VARIANT 1806
FT /note="C -> Y (in MFS)"
FT /evidence="ECO:0000269|PubMed:12402346"
FT /id="VAR_023891"
FT VARIANT 1811
FT /note="E -> K (in MFS; dbSNP:rs761857514)"
FT /evidence="ECO:0000269|PubMed:17657824,
FT ECO:0000269|PubMed:18435798"
FT /id="VAR_076088"
FT VARIANT 1812
FT /note="C -> R (in MFS; dbSNP:rs1597537935)"
FT /evidence="ECO:0000269|PubMed:19533785"
FT /id="VAR_076089"
FT VARIANT 1812
FT /note="C -> Y (probable disease-associated variant found in
FT a patient with Marfan-like syndrome; dbSNP:rs1555396213)"
FT /evidence="ECO:0000269|PubMed:17657824"
FT /id="VAR_076090"
FT VARIANT 1826
FT /note="N -> S (in MFS)"
FT /evidence="ECO:0000269|PubMed:19533785"
FT /id="VAR_076091"
FT VARIANT 1830
FT /note="S -> C (in MFS)"
FT /evidence="ECO:0000269|PubMed:17657824"
FT /id="VAR_076092"
FT VARIANT 1833
FT /note="C -> S (in MFS)"
FT /evidence="ECO:0000269|PubMed:10425041"
FT /id="VAR_010779"
FT VARIANT 1835
FT /note="C -> F (in MFS; dbSNP:rs111929350)"
FT /evidence="ECO:0000269|PubMed:17657824"
FT /id="VAR_076093"
FT VARIANT 1835
FT /note="C -> Y (in MFS; dbSNP:rs111929350)"
FT /evidence="ECO:0000269|PubMed:11700157,
FT ECO:0000269|PubMed:11826022, ECO:0000269|PubMed:12161601"
FT /id="VAR_018021"
FT VARIANT 1837
FT /note="P -> S (in MFS; dbSNP:rs755430984)"
FT /evidence="ECO:0000269|PubMed:9401003"
FT /id="VAR_002330"
FT VARIANT 1838
FT /note="G -> C (in MFS; dbSNP:rs397515823)"
FT /evidence="ECO:0000269|PubMed:21542060"
FT /id="VAR_066000"
FT VARIANT 1847
FT /note="C -> R (in MFS; dbSNP:rs1555396186)"
FT /evidence="ECO:0000269|PubMed:18435798"
FT /id="VAR_076094"
FT VARIANT 1847
FT /note="C -> W (in MFS)"
FT /evidence="ECO:0000269|PubMed:17657824"
FT /id="VAR_076095"
FT VARIANT 1860
FT /note="C -> Y (in MFS; dbSNP:rs1597535300)"
FT /evidence="ECO:0000269|PubMed:18435798"
FT /id="VAR_076096"
FT VARIANT 1865
FT /note="C -> R (in MFS; dbSNP:rs1555395984)"
FT /evidence="ECO:0000269|PubMed:22772377"
FT /id="VAR_076097"
FT VARIANT 1876
FT /note="C -> Y (in MFS; dbSNP:rs112728248)"
FT /evidence="ECO:0000269|PubMed:16222657"
FT /id="VAR_023892"
FT VARIANT 1879
FT /note="G -> D (in MFS)"
FT /evidence="ECO:0000269|PubMed:17657824"
FT /id="VAR_076098"
FT VARIANT 1887
FT /note="T -> I (in MFS)"
FT /evidence="ECO:0000269|PubMed:16222657"
FT /id="VAR_023893"
FT VARIANT 1893
FT /note="N -> K (in MFS; dbSNP:rs1597533706)"
FT /evidence="ECO:0000269|PubMed:9338581"
FT /id="VAR_002331"
FT VARIANT 1894
FT /note="E -> K (in MFS; dbSNP:rs1057521101)"
FT /evidence="ECO:0000269|PubMed:18435798"
FT /id="VAR_076099"
FT VARIANT 1895
FT /note="C -> R (in MFS; dbSNP:rs878853686)"
FT /evidence="ECO:0000269|PubMed:16222657"
FT /id="VAR_023894"
FT VARIANT 1900
FT /note="C -> Y (in MFS; dbSNP:rs794728237)"
FT /evidence="ECO:0000269|PubMed:16222657,
FT ECO:0000269|PubMed:18435798, ECO:0000269|PubMed:21542060"
FT /id="VAR_023895"
FT VARIANT 1907
FT /note="N -> S (probable disease-associated variant found in
FT a patient with Marfan-like syndrome; dbSNP:rs1060501087)"
FT /evidence="ECO:0000269|PubMed:17657824"
FT /id="VAR_076100"
FT VARIANT 1908
FT /note="T -> I (in MFS; dbSNP:rs1304811982)"
FT /evidence="ECO:0000269|PubMed:12402346"
FT /id="VAR_076101"
FT VARIANT 1909
FT /note="I -> T (in MFS; dbSNP:rs794728333)"
FT /evidence="ECO:0000269|PubMed:11700157,
FT ECO:0000269|PubMed:21542060"
FT /id="VAR_018022"
FT VARIANT 1915
FT /note="R -> S (in MFS; dbSNP:rs1555395826)"
FT /evidence="ECO:0000269|PubMed:11700157"
FT /id="VAR_018023"
FT VARIANT 1919
FT /note="G -> D (in MFS)"
FT /evidence="ECO:0000269|PubMed:12402346"
FT /id="VAR_076102"
FT VARIANT 1928
FT /note="C -> G (in MFS)"
FT /evidence="ECO:0000269|PubMed:16220557"
FT /id="VAR_023896"
FT VARIANT 1928
FT /note="C -> R (in MFS)"
FT /evidence="ECO:0000269|PubMed:7611299"
FT /id="VAR_002332"
FT VARIANT 1928
FT /note="C -> Y (in MFS; dbSNP:rs587782947)"
FT /evidence="ECO:0000269|PubMed:16220557"
FT /id="VAR_023897"
FT VARIANT 1930
FT /note="D -> H (probable disease-associated variant found in
FT a patient with Marfan-like syndrome)"
FT /evidence="ECO:0000269|PubMed:17657824"
FT /id="VAR_076103"
FT VARIANT 1931
FT /note="Missing (in MFS)"
FT /evidence="ECO:0000269|PubMed:12203992"
FT /id="VAR_018024"
FT VARIANT 1934
FT /note="C -> G (in MFS)"
FT /evidence="ECO:0000269|PubMed:18435798"
FT /id="VAR_076104"
FT VARIANT 1934
FT /note="C -> S (in MFS; dbSNP:rs1555395767 and
FT dbSNP:rs794728240)"
FT /evidence="ECO:0000269|PubMed:21542060"
FT /id="VAR_066001"
FT VARIANT 1971
FT /note="C -> Y (in MFS; dbSNP:rs111239111)"
FT /evidence="ECO:0000269|PubMed:11700157"
FT /id="VAR_018025"
FT VARIANT 1976
FT /note="E -> G (in MFS; dbSNP:rs1555395665)"
FT /evidence="ECO:0000269|PubMed:21542060"
FT /id="VAR_066002"
FT VARIANT 1977
FT /note="C -> R (in MFS)"
FT /evidence="ECO:0000269|PubMed:12161601"
FT /id="VAR_076105"
FT VARIANT 1977
FT /note="C -> W (in MFS)"
FT /evidence="ECO:0000269|PubMed:18435798"
FT /id="VAR_076106"
FT VARIANT 1977
FT /note="C -> Y (in MFS; dbSNP:rs1555395663)"
FT /evidence="ECO:0000269|PubMed:11700157"
FT /id="VAR_018026"
FT VARIANT 1984
FT /note="C -> R (in MFS; dbSNP:rs1555395659)"
FT /evidence="ECO:0000269|PubMed:21542060"
FT /id="VAR_066003"
FT VARIANT 1987
FT /note="G -> R (in MFS; dbSNP:rs727504642)"
FT /evidence="ECO:0000269|PubMed:17657824"
FT /id="VAR_076107"
FT VARIANT 1998
FT /note="C -> Y (in MFS; dbSNP:rs1085307531)"
FT /evidence="ECO:0000269|PubMed:12203992"
FT /id="VAR_018027"
FT VARIANT 2018
FT /note="V -> I (in dbSNP:rs363802)"
FT /id="VAR_055730"
FT VARIANT 2038
FT /note="C -> Y (in MFS; dbSNP:rs363804)"
FT /evidence="ECO:0000269|PubMed:16220557"
FT /id="VAR_023898"
FT VARIANT 2053..2871
FT /note="Missing (in MFS)"
FT /evidence="ECO:0000269|PubMed:17657824"
FT /id="VAR_076108"
FT VARIANT 2053
FT /note="C -> F (in dbSNP:rs363805)"
FT /id="VAR_055731"
FT VARIANT 2057..2871
FT /note="Missing (in MFS)"
FT /evidence="ECO:0000269|PubMed:18435798"
FT /id="VAR_076109"
FT VARIANT 2062..2871
FT /note="Missing (in MFS)"
FT /evidence="ECO:0000269|PubMed:18435798"
FT /id="VAR_076110"
FT VARIANT 2064..2871
FT /note="Missing (in MFS)"
FT /evidence="ECO:0000269|PubMed:18435798"
FT /id="VAR_076111"
FT VARIANT 2081..2871
FT /note="Missing (in MFS)"
FT /evidence="ECO:0000269|PubMed:22772377"
FT /id="VAR_076112"
FT VARIANT 2084
FT /note="C -> W (in MFS)"
FT /evidence="ECO:0000269|PubMed:19533785"
FT /id="VAR_076113"
FT VARIANT 2084
FT /note="C -> Y (in MFS; dbSNP:rs794728245)"
FT /evidence="ECO:0000269|PubMed:18435798"
FT /id="VAR_076114"
FT VARIANT 2085
FT /note="C -> R (in MFS)"
FT /evidence="ECO:0000269|PubMed:16220557"
FT /id="VAR_023899"
FT VARIANT 2099
FT /note="C -> W (in MFS)"
FT /evidence="ECO:0000269|PubMed:9338581"
FT /id="VAR_002333"
FT VARIANT 2101
FT /note="T -> M (in dbSNP:rs200816828)"
FT /evidence="ECO:0000269|PubMed:12203992"
FT /id="VAR_018028"
FT VARIANT 2105
FT /note="E -> K (probable disease-associated variant found in
FT a patient with Marfan-like syndrome)"
FT /evidence="ECO:0000269|PubMed:17657824"
FT /id="VAR_076115"
FT VARIANT 2111
FT /note="C -> R (in MFS; dbSNP:rs363815)"
FT /evidence="ECO:0000269|PubMed:11826022"
FT /id="VAR_018029"
FT VARIANT 2111
FT /note="C -> Y (in MFS; dbSNP:rs1131691467)"
FT /evidence="ECO:0000269|PubMed:9338581"
FT /id="VAR_002334"
FT VARIANT 2113
FT /note="Y -> F (in dbSNP:rs363816)"
FT /id="VAR_055732"
FT VARIANT 2118
FT /note="I -> M (in MFS; dbSNP:rs112989722)"
FT /evidence="ECO:0000269|PubMed:17657824"
FT /id="VAR_076116"
FT VARIANT 2127
FT /note="D -> E (in MFS)"
FT /evidence="ECO:0000269|PubMed:17657824,
FT ECO:0000269|PubMed:8136837"
FT /id="VAR_002335"
FT VARIANT 2130
FT /note="E -> K (in MFS; dbSNP:rs794728334)"
FT /evidence="ECO:0000269|PubMed:18435798,
FT ECO:0000269|PubMed:19533785"
FT /id="VAR_076117"
FT VARIANT 2136
FT /note="V -> D (probable disease-associated variant found in
FT a patient with Marfan-like syndrome)"
FT /evidence="ECO:0000269|PubMed:17657824"
FT /id="VAR_076118"
FT VARIANT 2142
FT /note="C -> Y (in MFS; dbSNP:rs794728335)"
FT /evidence="ECO:0000269|PubMed:10425041"
FT /id="VAR_010780"
FT VARIANT 2144
FT /note="N -> D (in MFS)"
FT /evidence="ECO:0000269|PubMed:17657824"
FT /id="VAR_076119"
FT VARIANT 2144
FT /note="N -> S (in MFS; dbSNP:rs137854461)"
FT /evidence="ECO:0000269|PubMed:16220557,
FT ECO:0000269|PubMed:19533785, ECO:0000269|PubMed:8504310"
FT /id="VAR_002336"
FT VARIANT 2145
FT /note="T -> P (in MFS)"
FT /evidence="ECO:0000269|PubMed:17657824"
FT /id="VAR_076120"
FT VARIANT 2151
FT /note="C -> W (in MFS; dbSNP:rs794728251)"
FT /evidence="ECO:0000269|PubMed:8136837"
FT /id="VAR_002337"
FT VARIANT 2153
FT /note="C -> Y (in MFS)"
FT /evidence="ECO:0000269|PubMed:17657824"
FT /id="VAR_076121"
FT VARIANT 2154
FT /note="P -> R (in ECTOL1; dbSNP:rs756219617)"
FT /evidence="ECO:0000269|PubMed:11700157"
FT /id="VAR_018030"
FT VARIANT 2160
FT /note="A -> P (in MFS)"
FT /evidence="ECO:0000269|PubMed:16222657"
FT /id="VAR_023900"
FT VARIANT 2166
FT /note="D -> N (in MFS; dbSNP:rs794728252)"
FT /evidence="ECO:0000269|PubMed:21542060"
FT /id="VAR_066004"
FT VARIANT 2169..2871
FT /note="Missing (probable disease-associated variant found
FT in a patient with Marfan-like syndrome)"
FT /evidence="ECO:0000269|PubMed:17657824"
FT /id="VAR_076122"
FT VARIANT 2170
FT /note="C -> F (in dbSNP:rs363821)"
FT /id="VAR_055733"
FT VARIANT 2185
FT /note="I -> T (in MFS; dbSNP:rs910656654)"
FT /evidence="ECO:0000269|PubMed:17657824,
FT ECO:0000269|PubMed:21542060"
FT /id="VAR_066005"
FT VARIANT 2195
FT /note="G -> R (probable disease-associated variant found in
FT a patient with Marfan-like syndrome; dbSNP:rs886038976)"
FT /evidence="ECO:0000269|PubMed:17657824"
FT /id="VAR_076123"
FT VARIANT 2220..2871
FT /note="Missing (in MFS)"
FT /evidence="ECO:0000269|PubMed:17657824,
FT ECO:0000269|PubMed:22772377"
FT /id="VAR_076124"
FT VARIANT 2221
FT /note="C -> F (in MFS)"
FT /evidence="ECO:0000269|PubMed:16222657"
FT /id="VAR_023901"
FT VARIANT 2221
FT /note="C -> G (in MFS)"
FT /evidence="ECO:0000269|PubMed:12203992"
FT /id="VAR_018031"
FT VARIANT 2221
FT /note="C -> R (in MFS; dbSNP:rs113543334)"
FT /evidence="ECO:0000269|PubMed:18435798"
FT /id="VAR_076125"
FT VARIANT 2221
FT /note="C -> S (in MFS; dbSNP:rs137854460)"
FT /evidence="ECO:0000269|PubMed:1301946"
FT /id="VAR_002338"
FT VARIANT 2223
FT /note="N -> H (in MFS; dbSNP:rs1555394919)"
FT /evidence="ECO:0000269|PubMed:11700157"
FT /id="VAR_018032"
FT VARIANT 2224
FT /note="T -> P (probable disease-associated variant found in
FT a patient with Marfan-like syndrome)"
FT /evidence="ECO:0000269|PubMed:17657824"
FT /id="VAR_076126"
FT VARIANT 2229..2871
FT /note="Missing (probable disease-associated variant found
FT in a patient with Marfan-like syndrome)"
FT /evidence="ECO:0000269|PubMed:17657824"
FT /id="VAR_076127"
FT VARIANT 2232
FT /note="C -> Y (in MFS; dbSNP:rs1060501054)"
FT /evidence="ECO:0000269|PubMed:18435798"
FT /id="VAR_076128"
FT VARIANT 2234
FT /note="V -> M (probable disease-associated variant found in
FT a patient with Marfan-like syndrome; dbSNP:rs112084407)"
FT /evidence="ECO:0000269|PubMed:17657824"
FT /id="VAR_076129"
FT VARIANT 2247
FT /note="D -> G (in MFS)"
FT /evidence="ECO:0000269|PubMed:21542060"
FT /id="VAR_066006"
FT VARIANT 2250
FT /note="E -> G (in ECTOL1)"
FT /evidence="ECO:0000269|PubMed:17657824"
FT /id="VAR_076130"
FT VARIANT 2251
FT /note="C -> R (in MFS; dbSNP:rs112836174)"
FT /evidence="ECO:0000269|PubMed:12402346"
FT /id="VAR_023902"
FT VARIANT 2258
FT /note="C -> R (in MFS; dbSNP:rs1057520617)"
FT /evidence="ECO:0000269|PubMed:9338581"
FT /id="VAR_002339"
FT VARIANT 2258
FT /note="C -> Y (in MFS; dbSNP:rs886039047)"
FT /evidence="ECO:0000269|PubMed:12161601"
FT /id="VAR_076131"
FT VARIANT 2269
FT /note="I -> T (in MFS; dbSNP:rs193922228)"
FT /evidence="ECO:0000269|PubMed:12203992,
FT ECO:0000269|PubMed:17657824, ECO:0000269|PubMed:18435798"
FT /id="VAR_018033"
FT VARIANT 2272
FT /note="Y -> C (in ECTOL1)"
FT /evidence="ECO:0000269|PubMed:17657824"
FT /id="VAR_076132"
FT VARIANT 2273
FT /note="M -> T (probable disease-associated variant found in
FT a patient with Marfan-like syndrome; dbSNP:rs754270535)"
FT /evidence="ECO:0000269|PubMed:17657824"
FT /id="VAR_076133"
FT VARIANT 2274
FT /note="C -> W (in MFS)"
FT /evidence="ECO:0000269|PubMed:17657824"
FT /id="VAR_076134"
FT VARIANT 2278
FT /note="P -> S (in dbSNP:rs363835)"
FT /id="VAR_055734"
FT VARIANT 2282
FT /note="R -> W (in MFS; dbSNP:rs765205164)"
FT /evidence="ECO:0000269|PubMed:11700157,
FT ECO:0000269|PubMed:9338581"
FT /id="VAR_002340"
FT VARIANT 2284
FT /note="P -> T (in MFS)"
FT /evidence="ECO:0000269|PubMed:18435798"
FT /id="VAR_076135"
FT VARIANT 2289
FT /note="C -> W (probable disease-associated variant found in
FT a patient with Marfan-like syndrome)"
FT /evidence="ECO:0000269|PubMed:17657824"
FT /id="VAR_076136"
FT VARIANT 2298..2871
FT /note="Missing (in MFS)"
FT /evidence="ECO:0000269|PubMed:19533785"
FT /id="VAR_076137"
FT VARIANT 2302
FT /note="C -> Y (probable disease-associated variant found in
FT a patient with Marfan-like syndrome)"
FT /evidence="ECO:0000269|PubMed:17657824"
FT /id="VAR_076138"
FT VARIANT 2307
FT /note="C -> S (in MFS; dbSNP:rs137854457)"
FT /evidence="ECO:0000269|PubMed:1301946,
FT ECO:0000269|PubMed:1569206"
FT /id="VAR_002341"
FT VARIANT 2318
FT /note="C -> R (in MFS; dbSNP:rs111588631)"
FT /evidence="ECO:0000269|PubMed:21542060"
FT /id="VAR_066007"
FT VARIANT 2329
FT /note="D -> E (in dbSNP:rs363831)"
FT /id="VAR_055735"
FT VARIANT 2335
FT /note="R -> W (in MFS; dbSNP:rs794728262)"
FT /evidence="ECO:0000269|PubMed:12203992"
FT /id="VAR_018034"
FT VARIANT 2339
FT /note="C -> Y (in ECTOL1; patient presenting also flat
FT corneas; dbSNP:rs1555394580)"
FT /evidence="ECO:0000269|PubMed:12203992"
FT /id="VAR_018035"
FT VARIANT 2365
FT /note="C -> Y (probable disease-associated variant found in
FT a patient with Marfan-like syndrome; dbSNP:rs397515845)"
FT /evidence="ECO:0000269|PubMed:17657824"
FT /id="VAR_076139"
FT VARIANT 2385
FT /note="A -> T (in MFS)"
FT /evidence="ECO:0000269|PubMed:16222657"
FT /id="VAR_023903"
FT VARIANT 2394..2871
FT /note="Missing (in MFS)"
FT /evidence="ECO:0000269|PubMed:12161601"
FT /id="VAR_076140"
FT VARIANT 2406
FT /note="C -> Y (in MFS; dbSNP:rs1131691479)"
FT /evidence="ECO:0000269|PubMed:11700157,
FT ECO:0000269|PubMed:21542060"
FT /id="VAR_018036"
FT VARIANT 2442
FT /note="C -> S (in MFS; dbSNP:rs1555394435)"
FT /evidence="ECO:0000269|PubMed:21542060"
FT /id="VAR_066008"
FT VARIANT 2442
FT /note="C -> W (in MFS)"
FT /evidence="ECO:0000269|PubMed:14695540"
FT /id="VAR_018037"
FT VARIANT 2447
FT /note="E -> K (in ECTOL1 and MFS; dbSNP:rs137854464)"
FT /evidence="ECO:0000269|PubMed:17657824,
FT ECO:0000269|PubMed:8136837, ECO:0000269|PubMed:8188302"
FT /id="VAR_002342"
FT VARIANT 2448
FT /note="C -> R (in ECTOL1; dbSNP:rs1566892757)"
FT /evidence="ECO:0000269|PubMed:17657824"
FT /id="VAR_076141"
FT VARIANT 2466..2871
FT /note="Missing (in MFS)"
FT /evidence="ECO:0000269|PubMed:12161601"
FT /id="VAR_076142"
FT VARIANT 2467..2871
FT /note="Missing (in MFS)"
FT /evidence="ECO:0000269|PubMed:12161601"
FT /id="VAR_076143"
FT VARIANT 2470
FT /note="C -> W (probable disease-associated variant found in
FT a patient with Marfan-like syndrome; dbSNP:rs1555394397)"
FT /evidence="ECO:0000269|PubMed:17657824"
FT /id="VAR_076144"
FT VARIANT 2470
FT /note="C -> Y (in MFS; dbSNP:rs1555394398)"
FT /evidence="ECO:0000269|PubMed:18435798"
FT /id="VAR_076145"
FT VARIANT 2474
FT /note="Y -> C (in MFS; dbSNP:rs869025415)"
FT /evidence="ECO:0000269|PubMed:11826022"
FT /id="VAR_018038"
FT VARIANT 2489
FT /note="C -> R (in MFS; dbSNP:rs1057520728)"
FT /evidence="ECO:0000269|PubMed:17657824,
FT ECO:0000269|PubMed:9338581"
FT /id="VAR_002343"
FT VARIANT 2500
FT /note="C -> R (in MFS; dbSNP:rs363810)"
FT /evidence="ECO:0000269|PubMed:16222657"
FT /id="VAR_023904"
FT VARIANT 2500
FT /note="C -> Y (in MFS; dbSNP:rs794728160)"
FT /evidence="ECO:0000269|PubMed:16222657"
FT /id="VAR_023905"
FT VARIANT 2511
FT /note="C -> R (in MFS; dbSNP:rs794728272)"
FT /evidence="ECO:0000269|PubMed:21542060,
FT ECO:0000269|PubMed:8136837, ECO:0000269|PubMed:9016526"
FT /id="VAR_002344"
FT VARIANT 2516
FT /note="T -> I (probable disease-associated variant found in
FT a patient with Marfan-like syndrome)"
FT /evidence="ECO:0000269|PubMed:17657824"
FT /id="VAR_076146"
FT VARIANT 2520
FT /note="T -> M (in MFS; dbSNP:rs763759308)"
FT /evidence="ECO:0000269|PubMed:17657824"
FT /id="VAR_076147"
FT VARIANT 2522
FT /note="C -> Y (in MFS)"
FT /evidence="ECO:0000269|PubMed:19533785"
FT /id="VAR_076148"
FT VARIANT 2526
FT /note="N -> S (probable disease-associated variant found in
FT a patient with Marfan-like syndrome; dbSNP:rs794728336)"
FT /evidence="ECO:0000269|PubMed:17657824"
FT /id="VAR_076149"
FT VARIANT 2535
FT /note="C -> W (in MFS; dbSNP:rs113544411)"
FT /evidence="ECO:0000269|PubMed:16222657"
FT /id="VAR_023906"
FT VARIANT 2536
FT /note="G -> R (in MFS; dbSNP:rs397515854)"
FT /evidence="ECO:0000269|PubMed:16220557,
FT ECO:0000269|PubMed:17657824"
FT /id="VAR_023907"
FT VARIANT 2541
FT /note="C -> F (probable disease-associated variant found in
FT a patient with Marfan-like syndrome)"
FT /evidence="ECO:0000269|PubMed:17657824"
FT /id="VAR_076150"
FT VARIANT 2542..2871
FT /note="Missing (in MFS)"
FT /evidence="ECO:0000269|PubMed:17657824"
FT /id="VAR_076151"
FT VARIANT 2554
FT /note="R -> W (probable disease-associated variant found in
FT a patient with Marfan-like syndrome; dbSNP:rs369294972)"
FT /evidence="ECO:0000269|PubMed:17657824"
FT /id="VAR_076152"
FT VARIANT 2555
FT /note="G -> V (in MFS; dbSNP:rs1566891654)"
FT /evidence="ECO:0000269|PubMed:17657824"
FT /id="VAR_076153"
FT VARIANT 2561
FT /note="T -> P (in MFS)"
FT /evidence="ECO:0000269|PubMed:18435798"
FT /id="VAR_076154"
FT VARIANT 2570
FT /note="E -> K (in MFS; dbSNP:rs886038786)"
FT /evidence="ECO:0000269|PubMed:16222657,
FT ECO:0000269|PubMed:18435798"
FT /id="VAR_023908"
FT VARIANT 2571..2871
FT /note="Missing (in MFS)"
FT /evidence="ECO:0000269|PubMed:17657824"
FT /id="VAR_076155"
FT VARIANT 2571
FT /note="C -> R (in MFS)"
FT /evidence="ECO:0000269|PubMed:16222657"
FT /id="VAR_023909"
FT VARIANT 2577
FT /note="C -> R (in MFS)"
FT /evidence="ECO:0000269|PubMed:18435798"
FT /id="VAR_076156"
FT VARIANT 2577
FT /note="C -> Y (in MFS)"
FT /evidence="ECO:0000269|PubMed:17657824"
FT /id="VAR_076157"
FT VARIANT 2581
FT /note="C -> F (in MFS; dbSNP:rs1555394149)"
FT /evidence="ECO:0000269|PubMed:11700157"
FT /id="VAR_018039"
FT VARIANT 2585
FT /note="I -> T (in MFS; dbSNP:rs727503054)"
FT /evidence="ECO:0000269|PubMed:11700157,
FT ECO:0000269|PubMed:14695540, ECO:0000269|PubMed:17657824"
FT /id="VAR_018040"
FT VARIANT 2592
FT /note="C -> S (in MFS)"
FT /evidence="ECO:0000269|PubMed:16222657"
FT /id="VAR_023910"
FT VARIANT 2605
FT /note="C -> Y (in MFS)"
FT /evidence="ECO:0000269|PubMed:16220557"
FT /id="VAR_023912"
FT VARIANT 2606
FT /note="Missing (in MFS)"
FT /evidence="ECO:0000269|PubMed:21542060"
FT /id="VAR_066009"
FT VARIANT 2610
FT /note="E -> K (in MFS; dbSNP:rs111984349)"
FT /evidence="ECO:0000269|PubMed:16222657,
FT ECO:0000269|PubMed:17657824, ECO:0000269|PubMed:21542060"
FT /id="VAR_023913"
FT VARIANT 2618
FT /note="G -> R (in MFS; unknown pathological significance;
FT dbSNP:rs141133182)"
FT /evidence="ECO:0000269|PubMed:11700157,
FT ECO:0000269|PubMed:17657824"
FT /id="VAR_018041"
FT VARIANT 2623
FT /note="H -> P (in MFS)"
FT /evidence="ECO:0000269|PubMed:14695540"
FT /id="VAR_002345"
FT VARIANT 2624
FT /note="N -> K (in MFS)"
FT /evidence="ECO:0000269|PubMed:11700157"
FT /id="VAR_018042"
FT VARIANT 2627
FT /note="G -> R (in MFS; dbSNP:rs193922239)"
FT /evidence="ECO:0000269|PubMed:7977366"
FT /id="VAR_002346"
FT VARIANT 2629
FT /note="Y -> C (in MFS)"
FT /evidence="ECO:0000269|PubMed:16222657"
FT /id="VAR_023914"
FT VARIANT 2646
FT /note="C -> R (in MFS; dbSNP:rs1555393863)"
FT /evidence="ECO:0000269|PubMed:21542060"
FT /id="VAR_066010"
FT VARIANT 2652
FT /note="C -> G (in MFS)"
FT /evidence="ECO:0000269|PubMed:11826022"
FT /id="VAR_018043"
FT VARIANT 2663
FT /note="C -> S (in MFS)"
FT /evidence="ECO:0000269|PubMed:15221638"
FT /id="VAR_023915"
FT VARIANT 2668
FT /note="G -> C (in MFS; dbSNP:rs1057521100)"
FT /evidence="ECO:0000269|PubMed:11700157"
FT /id="VAR_018044"
FT VARIANT 2680
FT /note="R -> C (in MFS; dbSNP:rs794728283)"
FT /evidence="ECO:0000269|PubMed:9401003"
FT /id="VAR_002347"
FT VARIANT 2694..2871
FT /note="Missing (in MFS)"
FT /evidence="ECO:0000269|PubMed:18435798"
FT /id="VAR_076158"
FT VARIANT 2708
FT /note="N -> S (in MFS; dbSNP:rs759494825)"
FT /evidence="ECO:0000269|PubMed:19533785"
FT /id="VAR_076159"
FT VARIANT 2726
FT /note="R -> W (probable disease-associated variant found in
FT a patient with Marfan-like syndrome; defects in protein
FT processing; dbSNP:rs61746008)"
FT /evidence="ECO:0000269|PubMed:17657824,
FT ECO:0000269|PubMed:18435798, ECO:0000269|PubMed:7738200,
FT ECO:0000269|PubMed:9817919"
FT /id="VAR_002348"
FT VARIANT 2741
FT /note="I -> T (in MFLS; dbSNP:rs1409931715)"
FT /evidence="ECO:0000269|PubMed:24665001"
FT /id="VAR_076160"
FT VARIANT 2774..2871
FT /note="Missing (probable disease-associated variant found
FT in a patient with Marfan-like syndrome)"
FT /evidence="ECO:0000269|PubMed:18435798"
FT /id="VAR_076161"
FT VARIANT 2776..2781
FT /note="Missing (probable disease-associated variant found
FT in a patient with Marfan-like syndrome; prevents secretion
FT into the extracellular matrix)"
FT /evidence="ECO:0000269|PubMed:24982166,
FT ECO:0000269|PubMed:7911051"
FT /id="VAR_076162"
FT VARIANT 2780
FT /note="L -> P (probable disease-associated variant found in
FT a patient with Marfan-like syndrome; prevents secretion
FT into the extracellular matrix; dbSNP:rs869025417)"
FT /evidence="ECO:0000269|PubMed:12161601,
FT ECO:0000269|PubMed:24982166"
FT /id="VAR_076163"
FT VARIANT 2793
FT /note="Y -> H (probable disease-associated variant found in
FT a patient with Marfan-like syndrome; dbSNP:rs113722038)"
FT /evidence="ECO:0000269|PubMed:21542060"
FT /id="VAR_066011"
FT VARIANT 2840..2871
FT /note="Missing (probable disease-associated variant found
FT in a patient with Marfan-like syndrome)"
FT /evidence="ECO:0000269|PubMed:17657824"
FT /id="VAR_076164"
FT VARIANT 2849..2871
FT /note="Missing (probable disease-associated variant found
FT in a patient with Marfan-like syndrome; prevents secretion
FT into the extracellular matrix)"
FT /evidence="ECO:0000269|PubMed:21034599,
FT ECO:0000269|PubMed:24982166"
FT /id="VAR_076165"
FT VARIANT 2867..2871
FT /note="Missing (probable disease-associated variant found
FT in a patient with Marfan-like syndrome; prevents secretion
FT into the extracellular matrix)"
FT /evidence="ECO:0000269|PubMed:19293843,
FT ECO:0000269|PubMed:24982166"
FT /id="VAR_076166"
FT MUTAGEN 1542
FT /note="G->D: Loss of integrin-mediated cell adhesion."
FT /evidence="ECO:0000269|PubMed:12807887"
FT MUTAGEN 2728
FT /note="R->A: Abolishes furin cleavage site, leading to
FT defects in protein processing at the C-terminus."
FT /evidence="ECO:0000269|PubMed:9817919"
FT MUTAGEN 2731
FT /note="R->K: Abolishes furin cleavage site, leading to
FT defects in protein processing at the C-terminus."
FT /evidence="ECO:0000269|PubMed:9817919"
FT MUTAGEN 2732
FT /note="S->T: Defects in protein processing at the C-
FT terminus."
FT /evidence="ECO:0000269|PubMed:9817919"
FT CONFLICT 207
FT /note="T -> Q (in Ref. 1; AAB02036)"
FT /evidence="ECO:0000305"
FT CONFLICT 2158
FT /note="I -> T (in Ref. 1; AAB02036 and 7; CAA45118)"
FT /evidence="ECO:0000305"
FT STRAND 50..52
FT /evidence="ECO:0007829|PDB:2M74"
FT STRAND 54..56
FT /evidence="ECO:0007829|PDB:2M74"
FT STRAND 58..60
FT /evidence="ECO:0007829|PDB:2M74"
FT STRAND 92..96
FT /evidence="ECO:0007829|PDB:2M74"
FT STRAND 99..101
FT /evidence="ECO:0007829|PDB:2M74"
FT STRAND 107..110
FT /evidence="ECO:0007829|PDB:2M74"
FT TURN 118..120
FT /evidence="ECO:0007829|PDB:2M74"
FT STRAND 128..130
FT /evidence="ECO:0007829|PDB:5MS9"
FT STRAND 133..135
FT /evidence="ECO:0007829|PDB:5MS9"
FT TURN 142..145
FT /evidence="ECO:0007829|PDB:2M74"
FT STRAND 155..157
FT /evidence="ECO:0007829|PDB:2M74"
FT STRAND 159..162
FT /evidence="ECO:0007829|PDB:2M74"
FT STRAND 165..167
FT /evidence="ECO:0007829|PDB:2M74"
FT STRAND 170..172
FT /evidence="ECO:0007829|PDB:5MS9"
FT STRAND 174..176
FT /evidence="ECO:0007829|PDB:2M74"
FT STRAND 184..187
FT /evidence="ECO:0007829|PDB:5MS9"
FT STRAND 191..193
FT /evidence="ECO:0007829|PDB:5MS9"
FT HELIX 206..211
FT /evidence="ECO:0007829|PDB:5MS9"
FT STRAND 215..217
FT /evidence="ECO:0007829|PDB:5MS9"
FT TURN 218..221
FT /evidence="ECO:0007829|PDB:5MS9"
FT STRAND 229..231
FT /evidence="ECO:0007829|PDB:5MS9"
FT STRAND 235..237
FT /evidence="ECO:0007829|PDB:5MS9"
FT TURN 239..241
FT /evidence="ECO:0007829|PDB:5MS9"
FT STRAND 244..246
FT /evidence="ECO:0007829|PDB:5MS9"
FT HELIX 249..252
FT /evidence="ECO:0007829|PDB:5MS9"
FT TURN 253..255
FT /evidence="ECO:0007829|PDB:5MS9"
FT STRAND 258..265
FT /evidence="ECO:0007829|PDB:5MS9"
FT STRAND 268..272
FT /evidence="ECO:0007829|PDB:5MS9"
FT TURN 281..284
FT /evidence="ECO:0007829|PDB:5MS9"
FT HELIX 810..813
FT /evidence="ECO:0007829|PDB:2W86"
FT STRAND 819..824
FT /evidence="ECO:0007829|PDB:2W86"
FT STRAND 827..831
FT /evidence="ECO:0007829|PDB:2W86"
FT STRAND 836..838
FT /evidence="ECO:0007829|PDB:2W86"
FT STRAND 842..847
FT /evidence="ECO:0007829|PDB:2W86"
FT STRAND 851..858
FT /evidence="ECO:0007829|PDB:2W86"
FT STRAND 861..870
FT /evidence="ECO:0007829|PDB:2W86"
FT HELIX 872..876
FT /evidence="ECO:0007829|PDB:2W86"
FT TURN 877..879
FT /evidence="ECO:0007829|PDB:2W86"
FT STRAND 881..883
FT /evidence="ECO:0007829|PDB:2W86"
FT TURN 884..887
FT /evidence="ECO:0007829|PDB:2W86"
FT TURN 894..896
FT /evidence="ECO:0007829|PDB:2W86"
FT STRAND 900..904
FT /evidence="ECO:0007829|PDB:2W86"
FT STRAND 907..910
FT /evidence="ECO:0007829|PDB:2W86"
FT HELIX 913..916
FT /evidence="ECO:0007829|PDB:2W86"
FT STRAND 921..929
FT /evidence="ECO:0007829|PDB:2W86"
FT STRAND 932..936
FT /evidence="ECO:0007829|PDB:2W86"
FT TURN 1073..1076
FT /evidence="ECO:0007829|PDB:1LMJ"
FT TURN 1080..1083
FT /evidence="ECO:0007829|PDB:1LMJ"
FT STRAND 1086..1089
FT /evidence="ECO:0007829|PDB:1LMJ"
FT STRAND 1092..1095
FT /evidence="ECO:0007829|PDB:1LMJ"
FT STRAND 1099..1103
FT /evidence="ECO:0007829|PDB:1LMJ"
FT TURN 1105..1107
FT /evidence="ECO:0007829|PDB:1LMJ"
FT STRAND 1108..1113
FT /evidence="ECO:0007829|PDB:1LMJ"
FT HELIX 1116..1119
FT /evidence="ECO:0007829|PDB:1LMJ"
FT TURN 1123..1126
FT /evidence="ECO:0007829|PDB:1LMJ"
FT STRAND 1127..1132
FT /evidence="ECO:0007829|PDB:1LMJ"
FT STRAND 1135..1140
FT /evidence="ECO:0007829|PDB:1LMJ"
FT STRAND 1148..1150
FT /evidence="ECO:0007829|PDB:1LMJ"
FT HELIX 1490..1492
FT /evidence="ECO:0007829|PDB:1UZK"
FT STRAND 1496..1498
FT /evidence="ECO:0007829|PDB:1UZK"
FT STRAND 1500..1505
FT /evidence="ECO:0007829|PDB:1UZK"
FT STRAND 1508..1512
FT /evidence="ECO:0007829|PDB:1UZK"
FT STRAND 1523..1527
FT /evidence="ECO:0007829|PDB:1UZK"
FT STRAND 1532..1537
FT /evidence="ECO:0007829|PDB:1UZK"
FT STRAND 1544..1546
FT /evidence="ECO:0007829|PDB:1UZJ"
FT STRAND 1550..1557
FT /evidence="ECO:0007829|PDB:1UZK"
FT HELIX 1559..1563
FT /evidence="ECO:0007829|PDB:1UZK"
FT TURN 1564..1566
FT /evidence="ECO:0007829|PDB:1UZK"
FT STRAND 1568..1570
FT /evidence="ECO:0007829|PDB:1UZP"
FT TURN 1571..1574
FT /evidence="ECO:0007829|PDB:1UZK"
FT HELIX 1583..1588
FT /evidence="ECO:0007829|PDB:1UZK"
FT STRAND 1595..1597
FT /evidence="ECO:0007829|PDB:1UZK"
FT TURN 1599..1601
FT /evidence="ECO:0007829|PDB:1UZK"
FT STRAND 1604..1606
FT /evidence="ECO:0007829|PDB:1UZK"
FT HELIX 1609..1612
FT /evidence="ECO:0007829|PDB:1UZK"
FT HELIX 1614..1617
FT /evidence="ECO:0007829|PDB:1UZK"
FT STRAND 1620..1624
FT /evidence="ECO:0007829|PDB:1UZK"
FT STRAND 1629..1632
FT /evidence="ECO:0007829|PDB:1UZK"
FT TURN 1641..1643
FT /evidence="ECO:0007829|PDB:1UZK"
FT HELIX 2054..2056
FT /evidence="ECO:0007829|PDB:1APJ"
FT STRAND 2061..2065
FT /evidence="ECO:0007829|PDB:1APJ"
FT STRAND 2070..2073
FT /evidence="ECO:0007829|PDB:1APJ"
FT HELIX 2080..2084
FT /evidence="ECO:0007829|PDB:1APJ"
FT STRAND 2090..2092
FT /evidence="ECO:0007829|PDB:1APJ"
FT TURN 2093..2096
FT /evidence="ECO:0007829|PDB:1APJ"
FT HELIX 2105..2110
FT /evidence="ECO:0007829|PDB:1APJ"
FT STRAND 2130..2133
FT /evidence="ECO:0007829|PDB:1EMN"
FT STRAND 2138..2142
FT /evidence="ECO:0007829|PDB:1EMN"
FT STRAND 2157..2160
FT /evidence="ECO:0007829|PDB:1EMN"
FT STRAND 2163..2166
FT /evidence="ECO:0007829|PDB:1EMN"
FT HELIX 2169..2171
FT /evidence="ECO:0007829|PDB:1EMN"
FT STRAND 2177..2179
FT /evidence="ECO:0007829|PDB:1EMN"
FT STRAND 2181..2183
FT /evidence="ECO:0007829|PDB:1EMN"
FT STRAND 2185..2190
FT /evidence="ECO:0007829|PDB:1EMN"
FT STRAND 2193..2196
FT /evidence="ECO:0007829|PDB:1EMN"
FT STRAND 2200..2202
FT /evidence="ECO:0007829|PDB:1EMN"
SQ SEQUENCE 2871 AA; 312298 MW; 501258AF1756B9F7 CRC64;
MRRGRLLEIA LGFTVLLASY TSHGADANLE AGNVKETRAS RAKRRGGGGH DALKGPNVCG
SRYNAYCCPG WKTLPGGNQC IVPICRHSCG DGFCSRPNMC TCPSGQIAPS CGSRSIQHCN
IRCMNGGSCS DDHCLCQKGY IGTHCGQPVC ESGCLNGGRC VAPNRCACTY GFTGPQCERD
YRTGPCFTVI SNQMCQGQLS GIVCTKTLCC ATVGRAWGHP CEMCPAQPHP CRRGFIPNIR
TGACQDVDEC QAIPGLCQGG NCINTVGSFE CKCPAGHKLN EVSQKCEDID ECSTIPGICE
GGECTNTVSS YFCKCPPGFY TSPDGTRCID VRPGYCYTAL TNGRCSNQLP QSITKMQCCC
DAGRCWSPGV TVAPEMCPIR ATEDFNKLCS VPMVIPGRPE YPPPPLGPIP PVLPVPPGFP
PGPQIPVPRP PVEYLYPSRE PPRVLPVNVT DYCQLVRYLC QNGRCIPTPG SYRCECNKGF
QLDLRGECID VDECEKNPCA GGECINNQGS YTCQCRAGYQ STLTRTECRD IDECLQNGRI
CNNGRCINTD GSFHCVCNAG FHVTRDGKNC EDMDECSIRN MCLNGMCINE DGSFKCICKP
GFQLASDGRY CKDINECETP GICMNGRCVN TDGSYRCECF PGLAVGLDGR VCVDTHMRST
CYGGYKRGQC IKPLFGAVTK SECCCASTEY AFGEPCQPCP AQNSAEYQAL CSSGPGMTSA
GSDINECALD PDICPNGICE NLRGTYKCIC NSGYEVDSTG KNCVDINECV LNSLLCDNGQ
CRNTPGSFVC TCPKGFIYKP DLKTCEDIDE CESSPCINGV CKNSPGSFIC ECSSESTLDP
TKTICIETIK GTCWQTVIDG RCEININGAT LKSQCCSSLG AAWGSPCTLC QVDPICGKGY
SRIKGTQCED IDECEVFPGV CKNGLCVNTR GSFKCQCPSG MTLDATGRIC LDIRLETCFL
RYEDEECTLP IAGRHRMDAC CCSVGAAWGT EECEECPMRN TPEYEELCPR GPGFATKEIT
NGKPFFKDIN ECKMIPSLCT HGKCRNTIGS FKCRCDSGFA LDSEERNCTD IDECRISPDL
CGRGQCVNTP GDFECKCDEG YESGFMMMKN CMDIDECQRD PLLCRGGVCH NTEGSYRCEC
PPGHQLSPNI SACIDINECE LSAHLCPNGR CVNLIGKYQC ACNPGYHSTP DRLFCVDIDE
CSIMNGGCET FCTNSEGSYE CSCQPGFALM PDQRSCTDID ECEDNPNICD GGQCTNIPGE
YRCLCYDGFM ASEDMKTCVD VNECDLNPNI CLSGTCENTK GSFICHCDMG YSGKKGKTGC
TDINECEIGA HNCGKHAVCT NTAGSFKCSC SPGWIGDGIK CTDLDECSNG THMCSQHADC
KNTMGSYRCL CKEGYTGDGF TCTDLDECSE NLNLCGNGQC LNAPGGYRCE CDMGFVPSAD
GKACEDIDEC SLPNICVFGT CHNLPGLFRC ECEIGYELDR SGGNCTDVNE CLDPTTCISG
NCVNTPGSYI CDCPPDFELN PTRVGCVDTR SGNCYLDIRP RGDNGDTACS NEIGVGVSKA
SCCCSLGKAW GTPCEMCPAV NTSEYKILCP GGEGFRPNPI TVILEDIDEC QELPGLCQGG
KCINTFGSFQ CRCPTGYYLN EDTRVCDDVN ECETPGICGP GTCYNTVGNY TCICPPDYMQ
VNGGNNCMDM RRSLCYRNYY ADNQTCDGEL LFNMTKKMCC CSYNIGRAWN KPCEQCPIPS
TDEFATLCGS QRPGFVIDIY TGLPVDIDEC REIPGVCENG VCINMVGSFR CECPVGFFYN
DKLLVCEDID ECQNGPVCQR NAECINTAGS YRCDCKPGYR FTSTGQCNDR NECQEIPNIC
SHGQCIDTVG SFYCLCHTGF KTNDDQTMCL DINECERDAC GNGTCRNTIG SFNCRCNHGF
ILSHNNDCID VDECASGNGN LCRNGQCINT VGSFQCQCNE GYEVAPDGRT CVDINECLLE
PRKCAPGTCQ NLDGSYRCIC PPGYSLQNEK CEDIDECVEE PEICALGTCS NTEGSFKCLC
PEGFSLSSSG RRCQDLRMSY CYAKFEGGKC SSPKSRNHSK QECCCALKGE GWGDPCELCP
TEPDEAFRQI CPYGSGIIVG PDDSAVDMDE CKEPDVCKHG QCINTDGSYR CECPFGYILA
GNECVDTDEC SVGNPCGNGT CKNVIGGFEC TCEEGFEPGP MMTCEDINEC AQNPLLCAFR
CVNTYGSYEC KCPVGYVLRE DRRMCKDEDE CEEGKHDCTE KQMECKNLIG TYMCICGPGY
QRRPDGEGCV DENECQTKPG ICENGRCLNT RGSYTCECND GFTASPNQDE CLDNREGYCF
TEVLQNMCQI GSSNRNPVTK SECCCDGGRG WGPHCEICPF QGTVAFKKLC PHGRGFMTNG
ADIDECKVIH DVCRNGECVN DRGSYHCICK TGYTPDITGT SCVDLNECNQ APKPCNFICK
NTEGSYQCSC PKGYILQEDG RSCKDLDECA TKQHNCQFLC VNTIGGFTCK CPPGFTQHHT
SCIDNNECTS DINLCGSKGI CQNTPGSFTC ECQRGFSLDQ TGSSCEDVDE CEGNHRCQHG
CQNIIGGYRC SCPQGYLQHY QWNQCVDENE CLSAHICGGA SCHNTLGSYK CMCPAGFQYE
QFSGGCQDIN ECGSAQAPCS YGCSNTEGGY LCGCPPGYFR IGQGHCVSGM GMGRGNPEPP
VSGEMDDNSL SPEACYECKI NGYPKRGRKR RSTNETDASN IEDQSETEAN VSLASWDVEK
TAIFAFNISH VSNKVRILEL LPALTTLTNH NRYLIESGNE DGFFKINQKE GISYLHFTKK
KPVAGTYSLQ ISSTPLYKKK ELNQLEDKYD KDYLSGELGD NLKMKIQVLL H
