CDSN_HUMAN
ID CDSN_HUMAN Reviewed; 529 AA.
AC Q15517; B0S7V2; B0UYZ7; O43509; Q5SQ85; Q5STD2; Q7LA70; Q7LA71; Q86Z04;
AC Q8IZU4; Q8IZU5; Q8IZU6; Q8N5P3; Q95IF9; Q9NP52; Q9NPE0; Q9NPG5; Q9NRH4;
AC Q9NRH5; Q9NRH6; Q9NRH7; Q9NRH8; Q9UBH8; Q9UIN6; Q9UIN7; Q9UIN8; Q9UIN9;
AC Q9UIP0;
DT 15-JUL-1998, integrated into UniProtKB/Swiss-Prot.
DT 18-MAY-2010, sequence version 3.
DT 03-AUG-2022, entry version 181.
DE RecName: Full=Corneodesmosin;
DE AltName: Full=S protein;
DE Flags: Precursor;
GN Name=CDSN;
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], AND VARIANTS LEU-18 AND SER-143.
RC TISSUE=Foreskin;
RX PubMed=8415725; DOI=10.1073/pnas.90.20.9470;
RA Zhou Y., Chaplin D.D.;
RT "Identification in the HLA class I region of a gene expressed late in
RT keratinocyte differentiation.";
RL Proc. Natl. Acad. Sci. U.S.A. 90:9470-9474(1993).
RN [2]
RP NUCLEOTIDE SEQUENCE [MRNA], AND VARIANTS SER-143 AND ALA-408.
RC TISSUE=Epidermis;
RX PubMed=9712893; DOI=10.1074/jbc.273.35.22640;
RA Guerrin M., Simon M., Montezin M., Haftek M., Vincent C., Serre G.;
RT "Expression cloning of human corneodesmosin proves its identity with the
RT product of the S gene and allows improved characterization of its
RT processing during keratinocyte differentiation.";
RL J. Biol. Chem. 273:22640-22647(1998).
RN [3]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA], AND VARIANTS LEU-18; SER-143; SER-153
RP DEL; PHE-202 AND LEU-410.
RX PubMed=12366786; DOI=10.1034/j.1399-0039.2002.600110.x;
RA Hui J., Oka A., Tamiya G., Tomizawa M., Kulski J.K., Penhale W.J.,
RA Tay G.K., Iizuka M., Ozawa A., Inoko H.;
RT "Corneodesmosin DNA polymorphisms in MHC haplotypes and Japanese patients
RT with psoriasis.";
RL Tissue Antigens 60:77-83(2002).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], AND VARIANT SER-143.
RA Shiina S., Tamiya G., Oka A., Inoko H.;
RT "Homo sapiens 2,229,817bp genomic DNA of 6p21.3 HLA class I region.";
RL Submitted (SEP-1999) to the EMBL/GenBank/DDBJ databases.
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], AND VARIANT SER-143.
RA Shiina T., Ota M., Katsuyama Y., Hashimoto N., Inoko H.;
RT "Genome diversity in HLA: a new strategy for detection of genetic
RT polymorphisms in expressed genes within the HLA class III and class I
RT regions.";
RL Submitted (JUL-2002) to the EMBL/GenBank/DDBJ databases.
RN [6]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], AND VARIANTS LEU-18;
RP SER-143; SER-153 DEL; PHE-202; ALA-408; LEU-410 AND ASN-527.
RX PubMed=14574404; DOI=10.1038/nature02055;
RA Mungall A.J., Palmer S.A., Sims S.K., Edwards C.A., Ashurst J.L.,
RA Wilming L., Jones M.C., Horton R., Hunt S.E., Scott C.E., Gilbert J.G.R.,
RA Clamp M.E., Bethel G., Milne S., Ainscough R., Almeida J.P., Ambrose K.D.,
RA Andrews T.D., Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J.,
RA Banerjee R., Barker D.J., Barlow K.F., Bates K., Beare D.M., Beasley H.,
RA Beasley O., Bird C.P., Blakey S.E., Bray-Allen S., Brook J., Brown A.J.,
RA Brown J.Y., Burford D.C., Burrill W., Burton J., Carder C., Carter N.P.,
RA Chapman J.C., Clark S.Y., Clark G., Clee C.M., Clegg S., Cobley V.,
RA Collier R.E., Collins J.E., Colman L.K., Corby N.R., Coville G.J.,
RA Culley K.M., Dhami P., Davies J., Dunn M., Earthrowl M.E., Ellington A.E.,
RA Evans K.A., Faulkner L., Francis M.D., Frankish A., Frankland J.,
RA French L., Garner P., Garnett J., Ghori M.J., Gilby L.M., Gillson C.J.,
RA Glithero R.J., Grafham D.V., Grant M., Gribble S., Griffiths C.,
RA Griffiths M.N.D., Hall R., Halls K.S., Hammond S., Harley J.L., Hart E.A.,
RA Heath P.D., Heathcott R., Holmes S.J., Howden P.J., Howe K.L., Howell G.R.,
RA Huckle E., Humphray S.J., Humphries M.D., Hunt A.R., Johnson C.M.,
RA Joy A.A., Kay M., Keenan S.J., Kimberley A.M., King A., Laird G.K.,
RA Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C.R.,
RA Lloyd D.M., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M.,
RA Maslen G.L., Matthews L., McCann O.T., McLaren S.J., McLay K., McMurray A.,
RA Moore M.J.F., Mullikin J.C., Niblett D., Nickerson T., Novik K.L.,
RA Oliver K., Overton-Larty E.K., Parker A., Patel R., Pearce A.V., Peck A.I.,
RA Phillimore B.J.C.T., Phillips S., Plumb R.W., Porter K.M., Ramsey Y.,
RA Ranby S.A., Rice C.M., Ross M.T., Searle S.M., Sehra H.K., Sheridan E.,
RA Skuce C.D., Smith S., Smith M., Spraggon L., Squares S.L., Steward C.A.,
RA Sycamore N., Tamlyn-Hall G., Tester J., Theaker A.J., Thomas D.W.,
RA Thorpe A., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M.,
RA West A.P., White S.S., Whitehead S.L., Whittaker H., Wild A., Willey D.J.,
RA Wilmer T.E., Wood J.M., Wray P.W., Wyatt J.C., Young L., Younger R.M.,
RA Bentley D.R., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Dunham I.,
RA Rogers J., Beck S.;
RT "The DNA sequence and analysis of human chromosome 6.";
RL Nature 425:805-811(2003).
RN [7]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], AND VARIANTS SER-143 AND
RP PHE-202.
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 [8]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], AND VARIANTS LEU-18; SER-143;
RP SER-153 DEL; PHE-202 AND LEU-410.
RC TISSUE=Skin;
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 [9]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 30-529 (ALLELES 1.11; 1.21; 1.31;
RP 1.32; 1.41; 1.42; 1.43; 1.51; 1.52; 2.11; 2.21; 2.22 AND 2.23), AND
RP VARIANTS PHE-56; ASN-143 DEL; ASN-150; PHE-202; GLY-401; ALA-408; LEU-410
RP AND ASN-527.
RX PubMed=11169256; DOI=10.1034/j.1399-0039.2001.057001032.x;
RA Guerrin M., Vincent C., Simon M., Ahnini R.T., Fort M., Serre G.;
RT "Identification of six novel polymorphisms in the human corneodesmosin
RT gene.";
RL Tissue Antigens 57:32-38(2001).
RN [10]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 106-529, VARIANTS SER-143; PHE-202;
RP GLY-401; ALA-408 AND LEU-410, AND ASSOCIATION WITH PSORIASIS.
RX PubMed=10599883; DOI=10.1034/j.1399-0039.1999.540501.x;
RA Jenisch S., Koch S., Henseler T., Nair R.P., Elder J.T., Watts C.E.,
RA Westphal E., Voorhees J.J., Christophers E., Kroenke M.;
RT "Corneodesmosin gene polymorphism demonstrates strong linkage
RT disequilibrium with HLA and association with psoriasis vulgaris.";
RL Tissue Antigens 54:439-449(1999).
RN [11]
RP PARTIAL PROTEIN SEQUENCE, CHARACTERIZATION, AND VARIANT SER-143.
RX PubMed=9395522; DOI=10.1074/jbc.272.50.31770;
RA Simon M., Montezin M., Guerrin M., Durieux J.-J., Serre G.;
RT "Characterization and purification of human corneodesmosin, an epidermal
RT basic glycoprotein associated with corneocyte-specific modified
RT desmosomes.";
RL J. Biol. Chem. 272:31770-31776(1997).
RN [12]
RP INVOLVEMENT IN HYPT2.
RX PubMed=12754508; DOI=10.1038/ng1163;
RA Levy-Nissenbaum E., Betz R.C., Frydman M., Simon M., Lahat H., Bakhan T.,
RA Goldman B., Bygum A., Pierick M., Hillmer A.M., Jonca N., Toribio J.,
RA Kruse R., Dewald G., Cichon S., Kubisch C., Guerrin M., Serre G.,
RA Nothen M.M., Pras E.;
RT "Hypotrichosis simplex of the scalp is associated with nonsense mutations
RT in CDSN encoding corneodesmosin.";
RL Nat. Genet. 34:151-153(2003).
RN [13]
RP FUNCTION, AND INVOLVEMENT IN PSS1.
RX PubMed=20691404; DOI=10.1016/j.ajhg.2010.07.005;
RA Oji V., Eckl K.M., Aufenvenne K., Natebus M., Tarinski T., Ackermann K.,
RA Seller N., Metze D., Nurnberg G., Folster-Holst R., Schafer-Korting M.,
RA Hausser I., Traupe H., Hennies H.C.;
RT "Loss of corneodesmosin leads to severe skin barrier defect, pruritus, and
RT atopy: unraveling the peeling skin disease.";
RL Am. J. Hum. Genet. 87:274-281(2010).
RN [14]
RP VARIANTS PHE-202 AND LEU-410, AND ASSOCIATION WITH PSORIASIS.
RX PubMed=10844560; DOI=10.1046/j.1523-1747.2000.00002.x;
RA Enerbaeck C., Enlund F., Inerot A., Samuelsson L., Wahlstroem J.,
RA Swanbeck G., Martinsson T.;
RT "S gene (Corneodesmosin) diversity and its relationship to psoriasis; high
RT content of cSNP in the HLA-linked S gene.";
RL J. Invest. Dermatol. 114:1158-1163(2000).
RN [15]
RP VARIANTS PHE-202; GLY-401; ALA-408; LEU-410 AND ASN-527, AND ASSOCIATION
RP WITH PSORIASIS.
RX PubMed=12472658; DOI=10.1034/j.1399-0039.2002.600403.x;
RA Orru S., Giuressi E., Casula M., Loizedda A., Murru R., Mulargia M.,
RA Masala M.V., Cerimele D., Zucca M., Aste N., Biggio P., Carcassi C.,
RA Contu L.;
RT "Psoriasis is associated with a SNP haplotype of the corneodesmosin gene
RT (CDSN).";
RL Tissue Antigens 60:292-298(2002).
CC -!- FUNCTION: Important for the epidermal barrier integrity.
CC {ECO:0000269|PubMed:20691404}.
CC -!- SUBCELLULAR LOCATION: Secreted. Note=Found in corneodesmosomes, the
CC intercellular structures that are involved in desquamation.
CC -!- TISSUE SPECIFICITY: Exclusively expressed in skin.
CC -!- POLYMORPHISM: Genetic variation in CDSN may be associated with
CC susceptibility to psoriasis [MIM:177900] (PubMed:10599883,
CC PubMed:12472658,PubMed:10844560). Various CDSN alleles are known
CC including alleles 1.11, 1.21, 1.31, 1.32, 1.41, 1.42, 1.43, 1.51, 1.52,
CC 2.11, 2.21, 2.22 and 2.23 (PubMed:11169256).
CC {ECO:0000269|PubMed:10599883, ECO:0000269|PubMed:10844560,
CC ECO:0000269|PubMed:11169256, ECO:0000269|PubMed:12472658}.
CC -!- DISEASE: Hypotrichosis 2 (HYPT2) [MIM:146520]: A condition
CC characterized by the presence of less than the normal amount of hair.
CC Affected individuals have normal hair in early childhood but experience
CC progressive hair loss limited to the scalp beginning in the middle of
CC the first decade and almost complete baldness by the third decade. Body
CC hair, beard, eyebrows, axillary hair, teeth, and nails develop
CC normally. HYPT2 inheritance is autosomal dominant.
CC {ECO:0000269|PubMed:12754508}. Note=The disease is caused by variants
CC affecting the gene represented in this entry.
CC -!- DISEASE: Peeling skin syndrome 1 (PSS1) [MIM:270300]: A genodermatosis
CC characterized by generalized, continuous shedding of the outer layers
CC of the epidermis. Two main PSS subtypes have been suggested. Patients
CC with non-inflammatory PSS (type A) manifest white scaling, with
CC painless and easy removal of the skin, irritation when in contact with
CC water, dust and sand, and no history of erythema, pruritis or atopy.
CC Inflammatory PSS (type B) is associated with generalized erythema,
CC pruritus and atopy. It is an ichthyosiform erythroderma characterized
CC by lifelong patchy peeling of the entire skin with onset at birth or
CC shortly after. Several patients have been reported with high IgE
CC levels. {ECO:0000269|PubMed:20691404}. Note=The disease is caused by
CC variants affecting the gene represented in this entry. CDNS mutations
CC are responsible for generalized, inflammatory peeling skin syndrome
CC type B (PubMed:20691404). {ECO:0000269|PubMed:20691404}.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAA21321.1; Type=Frameshift; Evidence={ECO:0000305};
CC Sequence=BAB63316.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
CC Sequence=BAC54948.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
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DR EMBL; L20815; AAA21321.1; ALT_SEQ; mRNA.
DR EMBL; AF030130; AAC24196.1; -; mRNA.
DR EMBL; AF491328; AAN70995.1; -; Genomic_DNA.
DR EMBL; AF491327; AAN70995.1; JOINED; Genomic_DNA.
DR EMBL; AF491330; AAN70996.1; -; Genomic_DNA.
DR EMBL; AF491329; AAN70996.1; JOINED; Genomic_DNA.
DR EMBL; AF491326; AAN70994.1; -; Genomic_DNA.
DR EMBL; AF491325; AAN70994.1; JOINED; Genomic_DNA.
DR EMBL; AL662844; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AL662867; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AL773544; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BX927139; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CR759805; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CR753819; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471081; EAX03358.1; -; Genomic_DNA.
DR EMBL; BA000025; BAB63316.1; ALT_INIT; Genomic_DNA.
DR EMBL; AB088114; BAC54948.1; ALT_INIT; Genomic_DNA.
DR EMBL; BC031993; AAH31993.1; -; mRNA.
DR EMBL; AF224747; AAF78559.1; -; Genomic_DNA.
DR EMBL; AF224748; AAF78560.1; -; Genomic_DNA.
DR EMBL; AF224749; AAF78561.1; -; Genomic_DNA.
DR EMBL; AF224750; AAF78562.1; -; Genomic_DNA.
DR EMBL; AF224751; AAF78563.1; -; Genomic_DNA.
DR EMBL; AF224752; AAF78564.1; -; Genomic_DNA.
DR EMBL; AF224753; AAF78565.1; -; Genomic_DNA.
DR EMBL; AF224754; AAF78566.1; -; Genomic_DNA.
DR EMBL; AF224755; AAF78567.1; -; Genomic_DNA.
DR EMBL; AF224756; AAF78568.1; -; Genomic_DNA.
DR EMBL; AF224757; AAF78569.1; -; Genomic_DNA.
DR EMBL; AF224758; AAF78570.1; -; Genomic_DNA.
DR EMBL; AF286165; AAG02419.1; -; Genomic_DNA.
DR EMBL; AJ238461; CAB57266.1; -; Genomic_DNA.
DR EMBL; AJ238462; CAB57267.1; -; Genomic_DNA.
DR EMBL; AJ238463; CAB57268.1; -; Genomic_DNA.
DR EMBL; AJ238464; CAB57269.1; -; Genomic_DNA.
DR EMBL; AJ238465; CAB57270.1; -; Genomic_DNA.
DR EMBL; AJ238466; CAB57271.1; -; Genomic_DNA.
DR EMBL; AJ238467; CAB57272.1; -; Genomic_DNA.
DR CCDS; CCDS34389.1; -.
DR PIR; A48679; A48679.
DR RefSeq; NP_001255.3; NM_001264.4.
DR AlphaFoldDB; Q15517; -.
DR BioGRID; 107472; 150.
DR IntAct; Q15517; 19.
DR MINT; Q15517; -.
DR GlyGen; Q15517; 2 sites, 1 O-linked glycan (1 site).
DR iPTMnet; Q15517; -.
DR PhosphoSitePlus; Q15517; -.
DR BioMuta; CDSN; -.
DR DMDM; 296439412; -.
DR jPOST; Q15517; -.
DR MassIVE; Q15517; -.
DR MaxQB; Q15517; -.
DR PaxDb; Q15517; -.
DR PeptideAtlas; Q15517; -.
DR PRIDE; Q15517; -.
DR ProteomicsDB; 60615; -.
DR DNASU; 1041; -.
DR Ensembl; ENST00000259726.6; ENSP00000259726.6; ENSG00000137197.6.
DR Ensembl; ENST00000418599.2; ENSP00000392863.2; ENSG00000237123.2.
DR Ensembl; ENST00000445893.2; ENSP00000388386.2; ENSG00000237114.2.
DR Ensembl; ENST00000457875.2; ENSP00000399604.2; ENSG00000237165.2.
DR GeneID; 1041; -.
DR KEGG; hsa:1041; -.
DR UCSC; uc011fbm.3; human.
DR CTD; 1041; -.
DR DisGeNET; 1041; -.
DR GeneCards; CDSN; -.
DR HGNC; HGNC:1802; CDSN.
DR MalaCards; CDSN; -.
DR MIM; 146520; phenotype.
DR MIM; 270300; phenotype.
DR MIM; 602593; gene.
DR neXtProt; NX_Q15517; -.
DR Orphanet; 90368; Hypotrichosis simplex of the scalp.
DR Orphanet; 263553; Peeling skin syndrome type B.
DR PharmGKB; PA26348; -.
DR eggNOG; ENOG502SQ6F; Eukaryota.
DR InParanoid; Q15517; -.
DR OrthoDB; 1337671at2759; -.
DR PhylomeDB; Q15517; -.
DR PathwayCommons; Q15517; -.
DR Reactome; R-HSA-6809371; Formation of the cornified envelope.
DR SignaLink; Q15517; -.
DR BioGRID-ORCS; 1041; 10 hits in 1061 CRISPR screens.
DR GeneWiki; Corneodesmosin; -.
DR GenomeRNAi; 1041; -.
DR Pharos; Q15517; Tbio.
DR PRO; PR:Q15517; -.
DR Proteomes; UP000005640; Chromosome 6.
DR RNAct; Q15517; protein.
DR Bgee; ENSG00000137197; Expressed in zone of skin and 1 other tissue.
DR GO; GO:0005911; C:cell-cell junction; TAS:ProtInc.
DR GO; GO:0001533; C:cornified envelope; IDA:MGI.
DR GO; GO:0030057; C:desmosome; IDA:CAFA.
DR GO; GO:0005576; C:extracellular region; IEA:UniProtKB-SubCell.
DR GO; GO:0005886; C:plasma membrane; TAS:Reactome.
DR GO; GO:0042803; F:protein homodimerization activity; IDA:MGI.
DR GO; GO:0007155; P:cell adhesion; TAS:ProtInc.
DR GO; GO:0098609; P:cell-cell adhesion; IDA:MGI.
DR GO; GO:0003336; P:corneocyte desquamation; IMP:CAFA.
DR GO; GO:0008544; P:epidermis development; TAS:ProtInc.
DR GO; GO:0030216; P:keratinocyte differentiation; NAS:UniProtKB.
DR GO; GO:1905716; P:negative regulation of cornification; IMP:CAFA.
DR GO; GO:0043589; P:skin morphogenesis; IMP:UniProtKB.
DR DisProt; DP00706; -.
DR InterPro; IPR026087; Corneodesmosin.
DR PANTHER; PTHR23207; PTHR23207; 1.
PE 1: Evidence at protein level;
KW Direct protein sequencing; Glycoprotein; Hypotrichosis; Reference proteome;
KW Secreted; Signal.
FT SIGNAL 1..32
FT /evidence="ECO:0000255"
FT CHAIN 33..529
FT /note="Corneodesmosin"
FT /id="PRO_0000020912"
FT REGION 38..248
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 383..492
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 43..222
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 385..470
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT CARBOHYD 172
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT VARIANT 18
FT /note="M -> L (in dbSNP:rs3095318)"
FT /evidence="ECO:0000269|PubMed:12366786,
FT ECO:0000269|PubMed:14574404, ECO:0000269|PubMed:15489334,
FT ECO:0000269|PubMed:8415725"
FT /id="VAR_022615"
FT VARIANT 56
FT /note="L -> F (in allele 1.31 and allele 1.32;
FT dbSNP:rs7742033)"
FT /evidence="ECO:0000269|PubMed:11169256"
FT /id="VAR_022637"
FT VARIANT 143
FT /note="N -> S (in dbSNP:rs3130984)"
FT /evidence="ECO:0000269|PubMed:10599883,
FT ECO:0000269|PubMed:12366786, ECO:0000269|PubMed:14574404,
FT ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:8415725,
FT ECO:0000269|PubMed:9395522, ECO:0000269|PubMed:9712893,
FT ECO:0000269|Ref.4, ECO:0000269|Ref.5, ECO:0000269|Ref.7"
FT /id="VAR_022616"
FT VARIANT 143
FT /note="Missing (in allele 2.11)"
FT /evidence="ECO:0000269|PubMed:11169256"
FT /id="VAR_022638"
FT VARIANT 145
FT /note="G -> S (in dbSNP:rs6457328)"
FT /id="VAR_046010"
FT VARIANT 150
FT /note="S -> N (in allele 2.21, allele 2.22 and allele 2.23;
FT dbSNP:rs1184132826)"
FT /evidence="ECO:0000269|PubMed:11169256"
FT /id="VAR_022639"
FT VARIANT 153
FT /note="Missing"
FT /evidence="ECO:0000269|PubMed:12366786,
FT ECO:0000269|PubMed:14574404, ECO:0000269|PubMed:15489334"
FT /id="VAR_022617"
FT VARIANT 202
FT /note="S -> F (in allele 1.11, allele 1.21, allele 1.31,
FT allele 1.32, allele 1.51, allele 1.52, allele 2.11, allele
FT 2.21, allele 2.22 and allele 2.23; dbSNP:rs707913)"
FT /evidence="ECO:0000269|PubMed:10599883,
FT ECO:0000269|PubMed:10844560, ECO:0000269|PubMed:11169256,
FT ECO:0000269|PubMed:12366786, ECO:0000269|PubMed:12472658,
FT ECO:0000269|PubMed:14574404, ECO:0000269|PubMed:15489334,
FT ECO:0000269|Ref.7"
FT /id="VAR_022618"
FT VARIANT 253
FT /note="Missing (in allele 1.32)"
FT /id="VAR_022640"
FT VARIANT 401
FT /note="S -> G (in allele 1.21; dbSNP:rs33941312)"
FT /evidence="ECO:0000269|PubMed:10599883,
FT ECO:0000269|PubMed:11169256, ECO:0000269|PubMed:12472658"
FT /id="VAR_022641"
FT VARIANT 408
FT /note="S -> A (in allele 1.51; dbSNP:rs1042127)"
FT /evidence="ECO:0000269|PubMed:10599883,
FT ECO:0000269|PubMed:11169256, ECO:0000269|PubMed:12472658,
FT ECO:0000269|PubMed:14574404, ECO:0000269|PubMed:9712893"
FT /id="VAR_022619"
FT VARIANT 410
FT /note="S -> L (in allele 2.11, allele 2.21, allele 2.22 and
FT allele 2.23; dbSNP:rs3132554)"
FT /evidence="ECO:0000269|PubMed:10599883,
FT ECO:0000269|PubMed:10844560, ECO:0000269|PubMed:11169256,
FT ECO:0000269|PubMed:12366786, ECO:0000269|PubMed:12472658,
FT ECO:0000269|PubMed:14574404, ECO:0000269|PubMed:15489334"
FT /id="VAR_022620"
FT VARIANT 527
FT /note="D -> N (in allele 2.21, allele 2.22 and allele 2.23;
FT dbSNP:rs3130981)"
FT /evidence="ECO:0000269|PubMed:11169256,
FT ECO:0000269|PubMed:12472658, ECO:0000269|PubMed:14574404"
FT /id="VAR_022621"
FT CONFLICT 406
FT /note="S -> G (in Ref. 8; AAH31993)"
FT /evidence="ECO:0000305"
FT CONFLICT 453
FT /note="S -> N (in Ref. 3; AAN70995)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 529 AA; 51522 MW; A040133CB0825C76 CRC64;
MGSSRAPWMG RVGGHGMMAL LLAGLLLPGT LAKSIGTFSD PCKDPTRITS PNDPCLTGKG
DSSGFSSYSG SSSSGSSISS ARSSGGGSSG SSSGSSIAQG GSAGSFKPGT GYSQVSYSSG
SGSSLQGASG SSQLGSSSSH SGNSGSHSGS SSSHSSSSSS FQFSSSSFQV GNGSALPTND
NSYRGILNPS QPGQSSSSSQ TSGVSSSGQS VSSNQRPCSS DIPDSPCSGG PIVSHSGPYI
PSSHSVSGGQ RPVVVVVDQH GSGAPGVVQG PPCSNGGLPG KPCPPITSVD KSYGGYEVVG
GSSDSYLVPG MTYSKGKIYP VGYFTKENPV KGSPGVPSFA AGPPISEGKY FSSNPIIPSQ
SAASSAIAFQ PVGTGGVQLC GGGSTGSKGP CSPSSSRVPS SSSISSSSGS PYHPCGSASQ
SPCSPPGTGS FSSSSSSQSS GKIILQPCGS KSSSSGHPCM SVSSLTLTGG PDGSPHPDPS
AGAKPCGSSS AGKIPCRSIR DILAQVKPLG PQLADPEVFL PQGELLDSP
