MYH7_HUMAN
ID MYH7_HUMAN Reviewed; 1935 AA.
AC P12883; A2TDB6; B6D424; Q14836; Q14837; Q14904; Q16579; Q2M1Y6; Q92679;
AC Q9H1D5; Q9UDA2; Q9UMM8;
DT 01-OCT-1989, integrated into UniProtKB/Swiss-Prot.
DT 06-DEC-2005, sequence version 5.
DT 03-AUG-2022, entry version 247.
DE RecName: Full=Myosin-7;
DE AltName: Full=Myosin heavy chain 7;
DE AltName: Full=Myosin heavy chain slow isoform;
DE Short=MyHC-slow;
DE AltName: Full=Myosin heavy chain, cardiac muscle beta isoform;
DE Short=MyHC-beta;
GN Name=MYH7; Synonyms=MYHCB;
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 [GENOMIC DNA / MRNA], AND VARIANT SER-1124.
RX PubMed=2249844; DOI=10.1016/0888-7543(90)90272-v;
RA Jaenicke T., Diederich K.W., Haas W., Schleich J., Lichter P., Pfordt M.,
RA Bach A., Vosberg H.P.;
RT "The complete sequence of the human beta-myosin heavy chain gene and a
RT comparative analysis of its product.";
RL Genomics 8:194-206(1990).
RN [2]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA], AND VARIANT GLU-107.
RX PubMed=2362820; DOI=10.1093/nar/18.12.3647;
RA Liew C.-C., Sole M.J., Yamauchi-Takihara K., Kellam B., Anderson D.H.,
RA Lin L., Liew J.;
RT "Complete sequence and organization of the human cardiac beta-myosin heavy
RT chain gene.";
RL Nucleic Acids Res. 18:3647-3651(1990).
RN [3]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA].
RX PubMed=10996847;
RX DOI=10.1002/1097-4644(20001215)79:4<566::aid-jcb50>3.0.co;2-e;
RA Wendel B., Reinhard R., Wachtendorf U., Zacharzowsky U.B., Osterziel K.J.,
RA Schulte H.D., Haase H., Hoehe M.R., Morano I.;
RT "The human beta-myosin heavy chain gene: sequence diversity and functional
RT characteristics of the protein.";
RL J. Cell. Biochem. 79:566-575(2000).
RN [4]
RP NUCLEOTIDE SEQUENCE [MRNA].
RA Smaniotto G., Melacini P.;
RT "Diverse clinicopathologic profiles and determinants of progressive heart
RT failure in hypertrophic cardiomyopathy.";
RL Submitted (MAY-2008) to the EMBL/GenBank/DDBJ databases.
RN [5]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA].
RG NHLBI resequencing and genotyping service (RS&G);
RL Submitted (DEC-2006) to the EMBL/GenBank/DDBJ databases.
RN [6]
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 (SEP-2005) to the EMBL/GenBank/DDBJ databases.
RN [7]
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 [8]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-176, AND VARIANT GLU-107.
RX PubMed=2726733; DOI=10.1073/pnas.86.10.3504;
RA Yamauchi-Takihara K., Sole M.J., Liew J., Ing D., Liew C.-C.;
RT "Characterization of human cardiac myosin heavy chain genes.";
RL Proc. Natl. Acad. Sci. U.S.A. 86:3504-3508(1989).
RN [9]
RP ERRATUM OF PUBMED:2726733.
RA Yamauchi-Takihara K., Sole M.J., Liew J., Ing D., Liew C.-C.;
RL Proc. Natl. Acad. Sci. U.S.A. 86:7416-7417(1989).
RN [10]
RP NUCLEOTIDE SEQUENCE [MRNA] OF 370-434, TISSUE SPECIFICITY, AND VARIANT
RP GLN-403.
RC TISSUE=Skeletal muscle;
RX PubMed=8514894; DOI=10.1172/jci116530;
RA Cuda G., Fananapazir L., Zhu W.S., Sellers J.R., Epstein N.D.;
RT "Skeletal muscle expression and abnormal function of beta-myosin in
RT hypertrophic cardiomyopathy.";
RL J. Clin. Invest. 91:2861-2865(1993).
RN [11]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 653-720.
RX PubMed=2522082; DOI=10.1007/bf00278991;
RA Diederich K.W., Eisele I., Ried T., Jaenicke T., Lichter P., Vosberg H.P.;
RT "Isolation and characterization of the complete human beta-myosin heavy
RT chain gene.";
RL Hum. Genet. 81:214-220(1989).
RN [12]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 684-721; 975-1111 AND 1853-1935.
RX PubMed=3021460; DOI=10.1111/j.1432-1033.1986.tb09989.x;
RA Lichter P., Umeda P.K., Levin J.E., Vosberg H.P.;
RT "Partial characterization of the human beta-myosin heavy-chain gene which
RT is expressed in heart and skeletal muscle.";
RL Eur. J. Biochem. 160:419-426(1986).
RN [13]
RP NUCLEOTIDE SEQUENCE [MRNA] OF 785-1935.
RC TISSUE=Skeletal muscle;
RX PubMed=1691980; DOI=10.1111/j.1432-1033.1990.tb15459.x;
RA Bober E., Buchberger-Seidl A., Braun T., Singh S., Goedde H.W.,
RA Arnold H.H.;
RT "Identification of three developmentally controlled isoforms of human
RT myosin heavy chains.";
RL Eur. J. Biochem. 189:55-65(1990).
RN [14]
RP NUCLEOTIDE SEQUENCE [MRNA] OF 1310-1935.
RX PubMed=2421254; DOI=10.1093/nar/14.7.2951;
RA Saez L., Leinwand L.A.;
RT "Characterization of diverse forms of myosin heavy chain expressed in adult
RT human skeletal muscle.";
RL Nucleic Acids Res. 14:2951-2969(1986).
RN [15]
RP SEQUENCE REVISION.
RA Leinwand L.A.;
RL Submitted (MAR-1988) to the EMBL/GenBank/DDBJ databases.
RN [16]
RP NUCLEOTIDE SEQUENCE [MRNA] OF 1393-1935.
RX PubMed=3032769; DOI=10.1007/bf00283049;
RA Jandreski M.A., Liew C.-C.;
RT "Construction of a human ventricular cDNA library and characterization of a
RT beta myosin heavy chain cDNA clone.";
RL Hum. Genet. 76:47-53(1987).
RN [17]
RP NUCLEOTIDE SEQUENCE [MRNA] OF 1412-1935.
RX PubMed=2969919; DOI=10.1172/jci113627;
RA Kurabayashi M., Tsuchimochi H., Komuro I., Takaku F., Yazaki Y.;
RT "Molecular cloning and characterization of human cardiac alpha- and beta-
RT form myosin heavy chain complementary DNA clones. Regulation of expression
RT during development and pressure overload in human atrium.";
RL J. Clin. Invest. 82:524-531(1988).
RN [18]
RP NUCLEOTIDE SEQUENCE [MRNA] OF 1854-1935.
RX PubMed=3037493; DOI=10.1093/nar/15.13.5443;
RA Saez L.J., Gianola K.M., McNally E.M., Feghali R., Eddy R., Shows T.B.,
RA Leinwand L.A.;
RT "Human cardiac myosin heavy chain genes and their linkage in the genome.";
RL Nucleic Acids Res. 15:5443-5459(1987).
RN [19]
RP REVIEW ON VARIANTS.
RX PubMed=8533830; DOI=10.1002/ajmg.1320580314;
RA Arai S., Matsuoka R., Hirayama K., Sukurai H., Tamura M., Ozawa T.,
RA Kimura M., Imamura S., Furutani Y., Joh-o K., Kawana M., Takao A.,
RA Hosoda S., Momma K.;
RT "Missense mutation of the beta-cardiac myosin heavy-chain gene in
RT hypertrophic cardiomyopathy.";
RL Am. J. Med. Genet. 58:267-276(1995).
RN [20]
RP INVOLVEMENT IN CMH1, AND VARIANTS CMH1 HIS-243; ASP-497 AND GLY-906.
RX PubMed=16267253; DOI=10.1161/circulationaha.105.547448;
RA Arad M., Penas-Lado M., Monserrat L., Maron B.J., Sherrid M., Ho C.Y.,
RA Barr S., Karim A., Olson T.M., Kamisago M., Seidman J.G., Seidman C.E.;
RT "Gene mutations in apical hypertrophic cardiomyopathy.";
RL Circulation 112:2805-2811(2005).
RN [21]
RP INVOLVEMENT IN MSMA, AND VARIANT MSMA PRO-1793.
RX PubMed=16684601; DOI=10.1016/j.nmd.2006.03.011;
RA Dye D.E., Azzarelli B., Goebel H.H., Laing N.G.;
RT "Novel slow-skeletal myosin (MYH7) mutation in the original myosin storage
RT myopathy kindred.";
RL Neuromuscul. Disord. 16:357-360(2006).
RN [22]
RP INVOLVEMENT IN LVNC5, AND VARIANTS LVNC5 ASP-239 DEL; HIS-243; LEU-252;
RP CYS-1359 AND THR-1776.
RX PubMed=18506004; DOI=10.1161/circulationaha.107.746164;
RA Klaassen S., Probst S., Oechslin E., Gerull B., Krings G., Schuler P.,
RA Greutmann M., Huerlimann D., Yegitbasi M., Pons L., Gramlich M.,
RA Drenckhahn J.D., Heuser A., Berger F., Jenni R., Thierfelder L.;
RT "Mutations in sarcomere protein genes in left ventricular noncompaction.";
RL Circulation 117:2893-2901(2008).
RN [23]
RP INVOLVEMENT IN CMH1, AND VARIANT CMH1 SER-453.
RX PubMed=18175163; DOI=10.1007/s00246-007-9177-9;
RA Frazier A., Judge D.P., Schulman S.P., Johnson N., Holmes K.W.,
RA Murphy A.M.;
RT "Familial hypertrophic cardiomyopathy associated with cardiac beta-myosin
RT heavy chain and troponin I mutations.";
RL Pediatr. Cardiol. 29:846-850(2008).
RN [24]
RP INTERACTION WITH LRRC39.
RX PubMed=20847312; DOI=10.1161/circresaha.110.222372;
RA Will R.D., Eden M., Just S., Hansen A., Eder A., Frank D., Kuhn C.,
RA Seeger T.S., Oehl U., Wiemann S., Korn B., Koegl M., Rottbauer W.,
RA Eschenhagen T., Katus H.A., Frey N.;
RT "Myomasp/LRRC39, a heart- and muscle-specific protein, is a novel component
RT of the sarcomeric M-band and is involved in stretch sensing.";
RL Circ. Res. 107:1253-1264(2010).
RN [25]
RP INTERACTION WITH ECPAS.
RX PubMed=20682791; DOI=10.1074/jbc.m110.154120;
RA Gorbea C., Pratt G., Ustrell V., Bell R., Sahasrabudhe S., Hughes R.E.,
RA Rechsteiner M.;
RT "A protein interaction network for Ecm29 links the 26 S proteasome to
RT molecular motors and endosomal components.";
RL J. Biol. Chem. 285:31616-31633(2010).
RN [26]
RP INVOLVEMENT IN CMD1S, AND VARIANTS CMD1S ASP-283; ASN-350; PRO-390;
RP GLU-1220 DEL; ASN-1459; LYS-1573 AND LYS-1918.
RX PubMed=21127202; DOI=10.1161/circgenetics.110.957985;
RA Postma A.V., van Engelen K., van de Meerakker J., Rahman T., Probst S.,
RA Baars M.J., Bauer U., Pickardt T., Sperling S.R., Berger F., Moorman A.F.,
RA Mulder B.J., Thierfelder L., Keavney B., Goodship J., Klaassen S.;
RT "Mutations in the sarcomere gene MYH7 in Ebstein anomaly.";
RL Circ. Cardiovasc. Genet. 4:43-50(2011).
RN [27]
RP INVOLVEMENT IN MSMB, AND VARIANT MSMB TRP-1820.
RX PubMed=25666907; DOI=10.1016/j.nmd.2015.01.007;
RA Yueceyar N., Ayhan O., Karasoy H., Tolun A.;
RT "Homozygous MYH7 R1820W mutation results in recessive myosin storage
RT myopathy: scapuloperoneal and respiratory weakness with dilated
RT cardiomyopathy.";
RL Neuromuscul. Disord. 25:340-344(2015).
RN [28]
RP X-RAY CRYSTALLOGRAPHY (2.50 ANGSTROMS) OF 838-963, AND X-RAY
RP CRYSTALLOGRAPHY (2.50 ANGSTROMS) OF 838-963 OF VARIANT CMH1 LYS-924.
RX PubMed=17095604; DOI=10.1073/pnas.0606741103;
RA Blankenfeldt W., Thoma N.H., Wray J.S., Gautel M., Schlichting I.;
RT "Crystal structures of human cardiac beta-myosin II S2-Delta provide
RT insight into the functional role of the S2 subfragment.";
RL Proc. Natl. Acad. Sci. U.S.A. 103:17713-17717(2006).
RN [29]
RP X-RAY CRYSTALLOGRAPHY (2.25 ANGSTROMS) OF 1-787 IN COMPLEX WITH AN
RP INHIBITOR, AND FUNCTION.
RX PubMed=26246073; DOI=10.1038/ncomms8974;
RA Winkelmann D.A., Forgacs E., Miller M.T., Stock A.M.;
RT "Structural basis for drug-induced allosteric changes to human beta-cardiac
RT myosin motor activity.";
RL Nat. Commun. 6:7974-7974(2015).
RN [30]
RP X-RAY CRYSTALLOGRAPHY (2.33 ANGSTROMS) OF 1173-1238; 1361-1425; 1551-1609
RP AND 1777-1855, COILED COIL, AND DOMAIN.
RX PubMed=26150528; DOI=10.1073/pnas.1505813112;
RA Taylor K.C., Buvoli M., Korkmaz E.N., Buvoli A., Zheng Y., Heinze N.T.,
RA Cui Q., Leinwand L.A., Rayment I.;
RT "Skip residues modulate the structural properties of the myosin rod and
RT guide thick filament assembly.";
RL Proc. Natl. Acad. Sci. U.S.A. 112:E3806-E3815(2015).
RN [31]
RP X-RAY CRYSTALLOGRAPHY (2.10 ANGSTROMS) OF 1468-1692, AND COILED COIL.
RX PubMed=26573747; DOI=10.1002/prot.24964;
RA Korkmaz E.N., Taylor K.C., Andreas M.P., Ajay G., Heinze N.T., Cui Q.,
RA Rayment I.;
RT "A composite approach towards a complete model of the myosin rod.";
RL Proteins 84:172-189(2016).
RN [32]
RP VARIANT CMH1 GLN-403.
RX PubMed=1975517; DOI=10.1016/0092-8674(90)90274-i;
RA Geisterfer-Lowrance A.A.T., Kass S., Tanigawa G., Vosberg H.-P.,
RA McKenna W., Seidman C.E., Seidman J.G.;
RT "A molecular basis for familial hypertrophic cardiomyopathy: a beta cardiac
RT myosin heavy chain gene missense mutation.";
RL Cell 62:999-1006(1990).
RN [33]
RP VARIANT CMH1 ASN-615.
RX PubMed=1417858; DOI=10.1016/0006-291x(92)92396-f;
RA Nishi H., Kimura A., Harada H., Toshima H., Sasazuki T.;
RT "Novel missense mutation in cardiac beta myosin heavy chain gene found in a
RT Japanese patient with hypertrophic cardiomyopathy.";
RL Biochem. Biophys. Res. Commun. 188:379-387(1992).
RN [34]
RP VARIANTS CMH1 GLN-403 AND VAL-908.
RX PubMed=1638703; DOI=10.1161/01.cir.86.2.345;
RA Epstein N.D., Cohn G.M., Cyran F., Fananapazir L.;
RT "Differences in clinical expression of hypertrophic cardiomyopathy
RT associated with two distinct mutations in the beta-myosin heavy chain gene.
RT A 908Leu-->Val mutation and a 403Arg-->Gln mutation.";
RL Circulation 86:345-352(1992).
RN [35]
RP VARIANTS CMH1 GLN-249; GLN-403; CYS-453 AND MET-606.
RX PubMed=1552912; DOI=10.1056/nejm199204233261703;
RA Watkins H., Rosenzweig A., Hwang D.S., Levi T., McKenna W., Seidmann C.E.,
RA Seidmann J.G.;
RT "Characteristics and prognostic implications of myosin missense mutations
RT in familial hypertrophic cardiomyopathy.";
RL N. Engl. J. Med. 326:1108-1114(1992).
RN [36]
RP VARIANTS CMH1 GLN-403; CYS-453; ARG-584 AND MET-606.
RX PubMed=8250038;
RA Watkins H., Thierfelder L., Anan R., Jarcho J., Matsumori A., McKenna W.,
RA Seidman J.G., Seidman C.E.;
RT "Independent origin of identical beta cardiac myosin heavy-chain mutations
RT in hypertrophic cardiomyopathy.";
RL Am. J. Hum. Genet. 53:1180-1185(1993).
RN [37]
RP VARIANT CMH1 GLY-778.
RX PubMed=8343162; DOI=10.1006/bbrc.1993.1891;
RA Harada H., Kimura A., Nishi H., Sasazuki T., Toshima H.;
RT "A missense mutation of cardiac beta-myosin heavy chain gene linked to
RT familial hypertrophic cardiomyopathy in affected Japanese families.";
RL Biochem. Biophys. Res. Commun. 194:791-798(1993).
RN [38]
RP VARIANT CMH1 VAL-908.
RX PubMed=8435239; DOI=10.1136/hrt.69.2.136;
RA Al-Mahdawi S., Chamberlain S., Cleland J., Nihoyannopoulos P., Gilligan D.,
RA French J., Choudhury L., Williamson R., Oakley C.;
RT "Identification of a mutation in the beta cardiac myosin heavy chain gene
RT in a family with hypertrophic cardiomyopathy.";
RL Br. Heart J. 69:136-141(1993).
RN [39]
RP VARIANT CMH1 TRP-403.
RX PubMed=8268932; DOI=10.1093/hmg/2.10.1731;
RA Moolman J.C., Brink P.A., Corfield V.A.;
RT "Identification of a new missense mutation at Arg403, a CpG mutation
RT hotspot, in exon 13 of the beta-myosin heavy chain gene in hypertrophic
RT cardiomyopathy.";
RL Hum. Mol. Genet. 2:1731-1732(1993).
RN [40]
RP VARIANTS CMH1 LEU-403 AND TRP-403.
RX PubMed=8254035; DOI=10.1172/jci116900;
RA Dausse E., Komajda M., Fetler L., Dubourg O., Dufour C., Carrier L.,
RA Wisnewsky C., Bercovici J., Hengstenberg C., Al-Mahdawi S.;
RT "Familial hypertrophic cardiomyopathy. Microsatellite haplotyping and
RT identification of a hot spot for mutations in the beta-myosin heavy chain
RT gene.";
RL J. Clin. Invest. 92:2807-2813(1993).
RN [41]
RP VARIANTS CMH1 GLU-256 AND ARG-741.
RX PubMed=8483915; DOI=10.1073/pnas.90.9.3993;
RA Fananapazir L., Dalakas M.C., Cyran F., Cohn G., Epstein N.D.;
RT "Missense mutations in the beta-myosin heavy-chain gene cause central core
RT disease in hypertrophic cardiomyopathy.";
RL Proc. Natl. Acad. Sci. U.S.A. 90:3993-3997(1993).
RN [42]
RP VARIANT CMH1 GLN-719.
RX PubMed=7848441; DOI=10.1093/hmg/3.6.1025;
RA Consevage M.W., Salada G.C., Baylen B.G., Ladda R.L., Rogan P.K.;
RT "A new missense mutation, Arg719Gln, in the beta-cardiac heavy chain myosin
RT gene of patients with familial hypertrophic cardiomyopathy.";
RL Hum. Mol. Genet. 3:1025-1026(1994).
RN [43]
RP VARIANT CMH1 TRP-719.
RX PubMed=7874131;
RA Greve G., Bachinski L., Friedman D.L., Czernuzewicz G., Anan R.,
RA Towbin J.A., Seidman C.E., Roberts R.;
RT "Isolation of a de novo mutant myocardial beta MHC protein in a pedigree
RT with hypertrophic cardiomyopathy.";
RL Hum. Mol. Genet. 3:2073-2075(1994).
RN [44]
RP VARIANTS CMH1 CYS-513; ARG-716 AND TRP-719.
RX PubMed=8282798; DOI=10.1172/jci116957;
RA Anan R., Greve G., Thierfelder L., Watkins H., McKenna W., Solomon S.,
RA Vecchio C., Shono H., Nakao S., Tanaka H., Mares A. Jr., Towbin J.A.,
RA Spirito P., Roberts R., Seidman J.G., Seidman C.E.;
RT "Prognostic implications of novel beta cardiac myosin heavy chain gene
RT mutations that cause familial hypertrophic cardiomyopathy.";
RL J. Clin. Invest. 93:280-285(1994).
RN [45]
RP VARIANT CMH1 THR-797.
RX PubMed=7581410; DOI=10.1002/humu.1380060219;
RA Moolman J.C., Brink P.A., Corfield V.A.;
RT "Identification of a novel Ala797Thr mutation in exon 21 of the beta-myosin
RT heavy chain gene in hypertrophic cardiomyopathy.";
RL Hum. Mutat. 6:197-198(1995).
RN [46]
RP VARIANTS CMH1 ILE-124; CYS-162; LYS-187; LYS-222; LEU-244; HIS-663; ASN-782
RP AND HIS-870.
RX PubMed=7731997; DOI=10.1073/pnas.92.9.3864;
RA Rayment I., Holden H.M., Sellers J.R., Fananapazir L., Epstein N.D.;
RT "Structural interpretation of the mutations in the beta-cardiac myosin that
RT have been implicated in familial hypertrophic cardiomyopathy.";
RL Proc. Natl. Acad. Sci. U.S.A. 92:3864-3868(1995).
RN [47]
RP VARIANT CMH1 CYS-453.
RX PubMed=8655135; DOI=10.1007/bf02281865;
RA Ko Y.-L., Chen J.-J., Tang T.-K., Cheng J.-J., Lin S.-Y., Liou Y.-C.,
RA Kuan P., Wu C.-W., Lien W.-P., Liew C.-C.;
RT "Malignant familial hypertrophic cardiomyopathy in a family with a
RT 453Arg-->Cys mutation in the beta-myosin heavy chain gene: coexistence of
RT sudden death and end-stage heart failure.";
RL Hum. Genet. 97:585-590(1996).
RN [48]
RP VARIANT CMH1 ASN-383.
RX PubMed=8899546; DOI=10.1006/jmcc.1996.0180;
RA Kuang S.-Q., Yu J.-D., Lu L., He L.-M., Gong L.-S., Chen S.-J., Chen Z.;
RT "Identification of a novel missense mutation in the cardiac beta-myosin
RT heavy chain gene in a Chinese patient with sporadic hypertrophic
RT cardiomyopathy.";
RL J. Mol. Cell. Cardiol. 28:1879-1883(1996).
RN [49]
RP VARIANTS CMH1 GLN-249 AND GLU-450.
RX PubMed=10065021; DOI=10.1136/hrt.80.6.548;
RA Arbustini E., Fasani R., Morbini P., Diegoli M., Grasso M., Dal Bello B.,
RA Marangoni E., Banfi P., Banchieri N., Bellini O., Comi G., Narula J.,
RA Campana C., Gavazzi A., Danesino C., Vigano M.;
RT "Coexistence of mitochondrial DNA and beta myosin heavy chain mutations in
RT hypertrophic cardiomyopathy with late congestive heart failure.";
RL Heart 80:548-558(1998).
RN [50]
RP ERRATUM OF PUBMED:10065021.
RA Arbustini E., Fasani R., Morbini P., Diegoli M., Grasso M., Dal Bello B.,
RA Marangoni E., Banfi P., Banchieri N., Bellini O., Comi G., Narula J.,
RA Campana C., Gavazzi A., Danesino C., Vigano M.;
RL Heart 81:330-330(1999).
RN [51]
RP VARIANTS CMH1 THR-349 AND TRP-719.
RX PubMed=9544842; DOI=10.1007/s004390050695;
RA Jeschke B., Uhl K., Weist B., Schroder D., Meitinger T., Dohlemann C.,
RA Vosberg H.-P.;
RT "A high risk phenotype of hypertrophic cardiomyopathy associated with a
RT compound genotype of two mutated beta-myosin heavy chain genes.";
RL Hum. Genet. 102:299-304(1998).
RN [52]
RP VARIANTS CMH1 THR-263; TRP-719; CYS-723 AND GLU-930 DEL.
RX PubMed=9829907;
RX DOI=10.1002/(sici)1098-1004(1998)12:6<385::aid-humu4>3.0.co;2-e;
RA Tesson F., Richard P., Charron P., Mathieu B., Cruaud C., Carrier L.,
RA Dubourg O., Lautie N., Desnos M., Millaire A., Isnard R., Hagege A.A.,
RA Bouhour J.-B., Bennaceur M., Hainque B., Guicheney P., Schwartz K.,
RA Komajda M.;
RT "Genotype-phenotype analysis in four families with mutations in beta-myosin
RT heavy chain gene responsible for familial hypertrophic cardiomyopathy.";
RL Hum. Mutat. 12:385-392(1998).
RN [53]
RP VARIANTS CMH1 SER-696 AND TRP-719.
RX PubMed=9822100; DOI=10.1016/s0735-1097(98)00448-3;
RA Jaeaeskelaeinen P., Soranta M., Miettinen R., Saarinen L., Pihlajamaeki J.,
RA Silvennoinen K., Tikanoja T., Laakso M., Kuusisto J.;
RT "The cardiac beta-myosin heavy chain gene is not the predominant gene for
RT hypertrophic cardiomyopathy in the Finnish population.";
RL J. Am. Coll. Cardiol. 32:1709-1716(1998).
RN [54]
RP VARIANTS CMH1 TRP-403; LYS-499; GLN-719 AND THR-797.
RX PubMed=10521296; DOI=10.1086/302623;
RA Moolman-Smook J.C., De Lange W.J., Bruwer E.C.D., Brink P.A.,
RA Corfield V.A.;
RT "The origins of hypertrophic cardiomyopathy-causing mutations in two South
RT African subpopulations: a unique profile of both independent and founder
RT events.";
RL Am. J. Hum. Genet. 65:1308-1320(1999).
RN [55]
RP VARIANT CMH1 CYS-694.
RX PubMed=10563488; DOI=10.1034/j.1399-0004.1999.560313.x;
RA Andersen P.S., Havndrup O., Bundgaard H., Larsen L.A., Vuust J.,
RA Kjeldsen K., Christiansen M.;
RT "Adult-onset familial hypertrophic cardiomyopathy caused by a novel
RT mutation, R694C, in the MYH7 gene.";
RL Clin. Genet. 56:244-246(1999).
RN [56]
RP VARIANT CMH1 THR-190.
RX PubMed=10329202; DOI=10.1006/jmcc.1998.0911;
RA Bundgaard H., Havndrup O., Andersen P.S., Larsen L.A., Brandt N.J.,
RA Vuust J., Kjeldsen K., Christiansen M.;
RT "Familial hypertrophic cardiomyopathy associated with a novel missense
RT mutation affecting the ATP-binding region of the cardiac beta-myosin heavy
RT chain.";
RL J. Mol. Cell. Cardiol. 31:745-750(1999).
RN [57]
RP VARIANT CMH1 LEU-712.
RX PubMed=10679957;
RX DOI=10.1002/(sici)1098-1004(200003)15:3<298::aid-humu22>3.0.co;2-7;
RA Sakthivel S., Joseph P.K., Tharakan J.M., Vosberg H.-P., Rajamanickam C.;
RT "A novel missense mutation (R712L) adjacent to the 'active thiol' region of
RT the cardiac beta-myosin heavy chain gene causing hypertrophic
RT cardiomyopathy in an Indian family.";
RL Hum. Mutat. 15:298-299(2000).
RN [58]
RP VARIANTS CMH1 CYS-869 AND CYS-870.
RX PubMed=10862102;
RX DOI=10.1002/1098-1004(200006)15:6<584::aid-humu25>3.0.co;2-r;
RA Anan R., Shono H., Tei C.;
RT "Novel cardiac beta-myosin heavy chain gene missense mutations (R869C and
RT R870C) that cause familial hypertrophic cardiomyopathy.";
RL Hum. Mutat. 15:584-584(2000).
RN [59]
RP VARIANT CMH1 GLY-723.
RX PubMed=11113006; DOI=10.1006/jmcc.2000.1260;
RA Enjuto M., Francino A., Navarro-Lopez F., Viles D., Pare J.-C.,
RA Ballesta A.M.;
RT "Malignant hypertrophic cardiomyopathy caused by the Arg723Gly mutation in
RT beta-myosin heavy chain gene.";
RL J. Mol. Cell. Cardiol. 32:2307-2313(2000).
RN [60]
RP VARIANTS CMD1S PRO-532 AND LEU-764.
RX PubMed=11106718; DOI=10.1056/nejm200012073432304;
RA Kamisago M., Sharma S.D., DePalma S.R., Solomon S., Sharma P.,
RA McDonough B., Smoot L., Mullen M.P., Woolf P.K., Wigle E.D., Seidman J.G.,
RA Seidman C.E.;
RT "Mutations in sarcomere protein genes as a cause of dilated
RT cardiomyopathy.";
RL N. Engl. J. Med. 343:1688-1696(2000).
RN [61]
RP VARIANT CMH1 VAL-390.
RX PubMed=11214007; DOI=10.1080/140174300750064477;
RA Havndrup O., Bundgaard H., Andersen P.S., Larsen L.A., Vuust J.,
RA Kjeldsen K., Christiansen M.;
RT "A novel missense mutation, Leu390Val, in the cardiac beta-myosin heavy
RT chain associated with pronounced septal hypertrophy in two families with
RT hypertrophic cardiomyopathy.";
RL Scand. Cardiovasc. J. 34:558-563(2000).
RN [62]
RP VARIANT CMH1 ASP-743.
RX PubMed=11733062; DOI=10.1016/s0092-8674(01)00586-4;
RA Davis J.S., Hassanzadeh S., Winitsky S., Lin H., Satorius C., Vemuri R.,
RA Aletras A.H., Wen H., Epstein N.D.;
RT "The overall pattern of cardiac contraction depends on a spatial gradient
RT of myosin regulatory light chain phosphorylation.";
RL Cell 107:631-641(2001).
RN [63]
RP VARIANT CMH1 VAL-728.
RX PubMed=11424919; DOI=10.1136/jmg.38.6.385;
RA Blair E., Price S.J., Baty C.J., Oestman-Smith I., Watkins H.;
RT "Mutations in cis can confound genotype-phenotype correlations in
RT hypertrophic cardiomyopathy.";
RL J. Med. Genet. 38:385-388(2001).
RN [64]
RP VARIANTS CMH1 GLN-249; MET-406; CYS-453; MET-606; HIS-663 AND LYS-877.
RX PubMed=11133230; DOI=10.1006/jmcc.2000.1287;
RA Greber-Platzer S., Marx M., Fleischmann C., Suppan C., Dobner M.,
RA Wimmer M.;
RT "Beta-myosin heavy chain gene mutations and hypertrophic cardiomyopathy in
RT Austrian children.";
RL J. Mol. Cell. Cardiol. 33:141-148(2001).
RN [65]
RP VARIANTS CMD1S THR-223 AND LEU-642.
RX PubMed=12379228; DOI=10.1016/s0006-291x(02)02374-4;
RA Daehmlow S., Erdmann J., Knueppel T., Gille C., Froemmel C., Hummel M.,
RA Hetzer R., Regitz-Zagrosek V.;
RT "Novel mutations in sarcomeric protein genes in dilated cardiomyopathy.";
RL Biochem. Biophys. Res. Commun. 298:116-120(2002).
RN [66]
RP VARIANTS CMH1 HIS-663; TRP-719; ARG-768 AND GLY-906.
RX PubMed=12081993; DOI=10.1161/01.cir.0000019070.70491.6d;
RA Ho C.Y., Sweitzer N.K., McDonough B., Maron B.J., Casey S.A., Seidman J.G.,
RA Seidman C.E., Solomon S.D.;
RT "Assessment of diastolic function with Doppler tissue imaging to predict
RT genotype in preclinical hypertrophic cardiomyopathy.";
RL Circulation 105:2992-2997(2002).
RN [67]
RP VARIANTS CMH1 THR-1379 AND GLY-1776, AND VARIANT CYS-1491.
RX PubMed=11861413; DOI=10.1161/hh0302.104532;
RA Blair E., Redwood C., de Jesus Oliveira M., Moolman-Smook J.C., Brink P.,
RA Corfield V.A., Oestman-Smith I., Watkins H.;
RT "Mutations of the light meromyosin domain of the beta-myosin heavy chain
RT rod in hypertrophic cardiomyopathy.";
RL Circ. Res. 90:263-269(2002).
RN [68]
RP VARIANTS CMH1 GLN-249; THR-349; GLN-403; ARG-595; MET-606; GLN-719;
RP TRP-719; GLU-927 DEL AND LYS-1555.
RX PubMed=11968089; DOI=10.1002/humu.10074;
RA Waldmueller S., Freund P., Mauch S., Toder R., Vosberg H.-P.;
RT "Low-density DNA microarrays are versatile tools to screen for known
RT mutations in hypertrophic cardiomyopathy.";
RL Hum. Mutat. 19:560-569(2002).
RN [69]
RP VARIANT MSMA TRP-1845.
RX PubMed=14520662; DOI=10.1002/ana.10693;
RA Tajsharghi H., Thornell L.-E., Lindberg C., Lindvall B., Henriksson K.-G.,
RA Oldfors A.;
RT "Myosin storage myopathy associated with a heterozygous missense mutation
RT in MYH7.";
RL Ann. Neurol. 54:494-500(2003).
RN [70]
RP VARIANTS CMH1 CYS-453; MET-517 AND GLU-734.
RX PubMed=12951062; DOI=10.1016/j.bbrc.2003.08.014;
RA Nanni L., Pieroni M., Chimenti C., Simionati B., Zimbello R., Maseri A.,
RA Frustaci A., Lanfranchi G.;
RT "Hypertrophic cardiomyopathy: two homozygous cases with 'typical'
RT hypertrophic cardiomyopathy and three new mutations in cases with
RT progression to dilated cardiomyopathy.";
RL Biochem. Biophys. Res. Commun. 309:391-398(2003).
RN [71]
RP VARIANTS CMH1 THR-190; MET-320; VAL-390; VAL-601; MET-606; CYS-694; GLU-778
RP AND GLN-846.
RX PubMed=12566107; DOI=10.1016/s0008-6363(02)00711-3;
RA Havndrup O., Bundgaard H., Andersen P.S., Larsen L.A., Vuust J.,
RA Kjeldsen K., Christiansen M.;
RT "Outcome of clinical versus genetic family screening in hypertrophic
RT cardiomyopathy with focus on cardiac beta-myosin gene mutations.";
RL Cardiovasc. Res. 57:347-357(2003).
RN [72]
RP VARIANTS CMH1 MET-39; ASN-188; HIS-204; SER-232; GLN-249; THR-263; THR-355;
RP LEU-403; GLN-403; TRP-403; VAL-428; THR-443; CYS-453; SER-479; LYS-483;
RP MET-606; ILE-659; SER-663; HIS-663; CYS-671; ARG-716; GLN-719; TRP-719;
RP CYS-723; GLU-733; ARG-741; ARG-768; GLU-778; HIS-787; THR-852; GLY-869;
RP GLU-883 DEL; GLU-930 DEL; ARG-1135; GLN-1218; MET-1377; THR-1379; TRP-1382;
RP MET-1692 AND THR-1777.
RX PubMed=12707239; DOI=10.1161/01.cir.0000066323.15244.54;
RA Richard P., Charron P., Carrier L., Ledeuil C., Cheav T., Pichereau C.,
RA Benaiche A., Isnard R., Dubourg O., Burban M., Gueffet J.-P., Millaire A.,
RA Desnos M., Schwartz K., Hainque B., Komajda M.;
RT "Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of
RT mutations, and implications for a molecular diagnosis strategy.";
RL Circulation 107:2227-2232(2003).
RN [73]
RP ERRATUM OF PUBMED:12707239.
RA Richard P., Charron P., Carrier L., Ledeuil C., Cheav T., Pichereau C.,
RA Benaiche A., Isnard R., Dubourg O., Burban M., Gueffet J.-P., Millaire A.,
RA Desnos M., Schwartz K., Hainque B., Komajda M.;
RL Circulation 109:3258-3258(2004).
RN [74]
RP VARIANTS CMH1 TRP-143; TRP-403; ILE-411; SER-584; HIS-694; TRP-719;
RP THR-736; PHE-796; ILE-824; HIS-870; PHE-905; GLN-924 AND ASN-928.
RX PubMed=12974739; DOI=10.1034/j.1399-0004.2003.00151.x;
RA Erdmann J., Daehmlow S., Wischke S., Senyuva M., Werner U., Raible J.,
RA Tanis N., Dyachenko S., Hummel M., Hetzer R., Regitz-Zagrosek V.;
RT "Mutation spectrum in a large cohort of unrelated consecutive patients with
RT hypertrophic cardiomyopathy.";
RL Clin. Genet. 64:339-349(2003).
RN [75]
RP VARIANTS CMH1 GLY-143; ILE-148; GLN-207; LEU-211; GLU-351; GLN-403;
RP SER-479; ALA-500; ARG-571; HIS-663; CYS-671; THR-736; GLY-763; ASN-782;
RP LEU-822; GLU-882 AND VAL-908.
RX PubMed=12820698; DOI=10.1089/109065703321560895;
RA Mohiddin S.A., Begley D.A., McLam E., Cardoso J.-P., Winkler J.B.,
RA Sellers J.R., Fananapazir L.;
RT "Utility of genetic screening in hypertrophic cardiomyopathy: prevalence
RT and significance of novel and double (homozygous and heterozygous) beta-
RT myosin mutations.";
RL Genet. Test. 7:21-27(2003).
RN [76]
RP VARIANTS CMH1 THR-196; LEU-211; GLN-249; GLN-403; LEU-404; ILE-411;
RP CYS-453; ARG-716; CYS-870; VAL-908 AND LYS-930.
RX PubMed=12975413; DOI=10.1136/heart.89.10.1179;
RA Woo A., Rakowski H., Liew J.C., Zhao M.-S., Liew C.-C., Parker T.G.,
RA Zeller M., Wigle E.D., Sole M.J.;
RT "Mutations of the beta myosin heavy chain gene in hypertrophic
RT cardiomyopathy: critical functional sites determine prognosis.";
RL Heart 89:1179-1185(2003).
RN [77]
RP VARIANTS CMH1 VAL-774 AND ASN-782.
RX PubMed=12590187;
RA Moric E., Mazurek U., Polonska J., Domal-Kwiatkowska D., Smolik S.,
RA Kozakiewicz K., Tendera M., Wilczok T.;
RT "Three novel mutations in exon 21 encoding beta-cardiac myosin heavy
RT chain.";
RL J. Appl. Genet. 44:103-109(2003).
RN [78]
RP VARIANTS CMH1 GLU-430 AND LYS-924.
RX PubMed=12818575; DOI=10.1016/s0022-2828(03)00146-9;
RA Moerner S., Richard P., Kazzam E., Hellman U., Hainque B., Schwartz K.,
RA Waldenstroem A.;
RT "Identification of the genotypes causing hypertrophic cardiomyopathy in
RT northern Sweden.";
RL J. Mol. Cell. Cardiol. 35:841-849(2003).
RN [79]
RP LACK OF ASSOCIATION OF VARIANT MET-1692 WITH HYPERTROPHIC CARDIOMYOPATHY.
RA Richard P.;
RL Unpublished observations (OCT-2004).
RN [80]
RP VARIANTS MPD1 PRO-1500; LYS-1617 DEL; PRO-1663; PRO-1706 AND LYS-1729 DEL.
RX PubMed=15322983; DOI=10.1086/424760;
RA Meredith C., Herrmann R., Parry C., Liyanage K., Dye D.E., Durling H.J.,
RA Duff R.M., Beckman K., de Visser M., van der Graaff M.M., Hedera P.,
RA Fink J.K., Petty E.M., Lamont P., Fabian V., Bridges L., Voit T.,
RA Mastaglia F.L., Laing N.G.;
RT "Mutations in the slow skeletal muscle fiber myosin heavy chain gene (MYH7)
RT cause Laing early-onset distal myopathy (MPD1).";
RL Am. J. Hum. Genet. 75:703-708(2004).
RN [81]
RP VARIANTS CMH1 HIS-115; GLN-143; MET-263; CYS-312; THR-349; VAL-385;
RP GLN-403; MET-404; VAL-407; VAL-428; MET-440; CYS-453; THR-511; ARG-515;
RP CYS-663; HIS-663; CYS-694; ARG-716; GLN-719; ARG-741; VAL-778; THR-797;
RP LYS-847 DEL; CYS-858; HIS-869; GLY-894; VAL-908; LYS-921; LYS-924; LYS-931;
RP HIS-953; SER-1057; LYS-1356; MET-1377; TRP-1420; ASN-1459; SER-1513;
RP LYS-1768; MET-1854 AND MET-1929, AND VARIANTS CYS-1491 AND ASN-1919.
RX PubMed=15358028; DOI=10.1016/j.jacc.2004.04.039;
RA Van Driest S.L., Jaeger M.A., Ommen S.R., Will M.L., Gersh B.J.,
RA Tajik A.J., Ackerman M.J.;
RT "Comprehensive analysis of the beta-myosin heavy chain gene in 389
RT unrelated patients with hypertrophic cardiomyopathy.";
RL J. Am. Coll. Cardiol. 44:602-610(2004).
RN [82]
RP VARIANT MSMA LEU-1901.
RX PubMed=15136674; DOI=10.1212/01.wnl.0000123255.92062.37;
RA Bohlega S., Abu-Amero S.N., Wakil S.M., Carroll P., Al-Amr R., Lach B.,
RA Al-Sayed Y., Cupler E.J., Meyer B.F.;
RT "Mutation of the slow myosin heavy chain rod domain underlies hyaline body
RT myopathy.";
RL Neurology 62:1518-1521(2004).
RN [83]
RP VARIANTS CMH1 VAL-26; GLN-143; ARG-425; THR-450; PHE-511; GLN-615; CYS-663;
RP HIS-663; PRO-734; ARG-741; THR-822; GLU-823; HIS-858; LYS-924 AND LYS-930.
RX PubMed=15563892; DOI=10.1016/j.cccn.2004.09.016;
RA Song L., Zou Y., Wang J., Wang Z., Zhen Y., Lou K., Zhang Q., Wang X.,
RA Wang H., Li J., Hui R.;
RT "Mutations profile in Chinese patients with hypertrophic cardiomyopathy.";
RL Clin. Chim. Acta 351:209-216(2005).
RN [84]
RP VARIANTS CMD1S THR-201; ASN-412; VAL-550; ASN-1019; SER-1193; LYS-1426 AND
RP CYS-1634, AND VARIANT CYS-1491.
RX PubMed=15769782; DOI=10.1093/eurheartj/ehi193;
RA Villard E., Duboscq-Bidot L., Charron P., Benaiche A., Conraads V.,
RA Sylvius N., Komajda M.;
RT "Mutation screening in dilated cardiomyopathy: prominent role of the beta
RT myosin heavy chain gene.";
RL Eur. Heart J. 26:794-803(2005).
RN [85]
RP VARIANTS CMH1 LYS-1327; TRP-1712 AND LYS-1753, AND VARIANTS CYS-1475 AND
RP CYS-1491.
RX PubMed=15483641; DOI=10.1038/sj.ejhg.5201310;
RA Hougs L., Havndrup O., Bundgaard H., Koeber L., Vuust J., Larsen L.A.,
RA Christiansen M., Andersen P.S.;
RT "One third of Danish hypertrophic cardiomyopathy patients with MYH7
RT mutations have mutations in MYH7 rod region.";
RL Eur. J. Hum. Genet. 13:161-165(2005).
RN [86]
RP VARIANTS CMH1 VAL-227; GLY-328; GLU-351; GLN-403; TRP-403; ILE-411;
RP THR-435; CYS-453; HIS-453; MET-606; CYS-663; GLN-719; TRP-719; HIS-787;
RP GLY-894; VAL-908 AND LYS-927, AND VARIANT CYS-1519.
RX PubMed=15858117; DOI=10.1136/jcp.2004.021642;
RA Yu B., Sawyer N.A., Caramins M., Yuan Z.G., Saunderson R.B., Pamphlett R.,
RA Richmond D.R., Jeremy R.W., Trent R.J.;
RT "Denaturing high performance liquid chromatography: high throughput
RT mutation screening in familial hypertrophic cardiomyopathy and SNP
RT genotyping in motor neurone disease.";
RL J. Clin. Pathol. 58:479-485(2005).
RN [87]
RP VARIANTS CMH1 ASN-146; LEU-186; MET-606; HIS-663; ALA-698; GLN-719;
RP CYS-723; THR-736; GLU-742 AND ASP-1057.
RX PubMed=16199542; DOI=10.1136/jmg.2005.033886;
RA Ingles J., Doolan A., Chiu C., Seidman J., Seidman C., Semsarian C.;
RT "Compound and double mutations in patients with hypertrophic
RT cardiomyopathy: implications for genetic testing and counselling.";
RL J. Med. Genet. 42:E59-E59(2005).
RN [88]
RP VARIANTS CMH1 LEU-211; TRP-403; CYS-453; CYS-501; ARG-576; THR-736;
RP TRP-741; GLY-901; ASN-928; LYS-1356 AND THR-1454.
RX PubMed=15856146; DOI=10.1007/s00109-005-0635-7;
RA Perrot A., Schmidt-Traub H., Hoffmann B., Prager M., Bit-Avragim N.,
RA Rudenko R.I., Usupbaeva D.A., Kabaeva Z., Imanov B., Mirrakhimov M.M.,
RA Dietz R., Wycisk A., Tendera M., Gessner R., Osterziel K.J.;
RT "Prevalence of cardiac beta-myosin heavy chain gene mutations in patients
RT with hypertrophic cardiomyopathy.";
RL J. Mol. Med. 83:468-477(2005).
RN [89]
RP VARIANT CMH1 HIS-870.
RX PubMed=16650083; DOI=10.1111/j.1399-0004.2006.00599.x;
RA Tanjore R.R., Sikindlapuram A.D., Calambur N., Thakkar B., Kerkar P.G.,
RA Nallari P.;
RT "Genotype-phenotype correlation of R870H mutation in hypertrophic
RT cardiomyopathy.";
RL Clin. Genet. 69:434-436(2006).
RN [90]
RP VARIANTS CMH1 VAL-515 AND CYS-858.
RX PubMed=16938236; DOI=10.1157/13091891;
RA Mora R., Merino J.L., Peinado R., Olias F., Garcia-Guereta L.,
RA del Cerro M.J., Tarin M.N., Molano J.;
RT "Hypertrophic cardiomyopathy: infrequent mutation of the cardiac beta-
RT myosin heavy-chain gene.";
RL Rev. Esp. Cardiol. 59:846-849(2006).
RN [91]
RP VARIANT CMH1 LYS-1883.
RX PubMed=17372140; DOI=10.1212/01.wnl.0000257131.13438.2c;
RA Tajsharghi H., Oldfors A., Macleod D.P., Swash M.;
RT "Homozygous mutation in MYH7 in myosin storage myopathy and
RT cardiomyopathy.";
RL Neurology 68:962-962(2007).
RN [92]
RP VARIANT MPD1 MET-441.
RX PubMed=17548557; DOI=10.1212/01.wnl.0000264430.55233.72;
RA Darin N., Tajsharghi H., Oestman-Smith I., Gilljam T., Oldfors A.;
RT "New skeletal myopathy and cardiomyopathy associated with a missense
RT mutation in MYH7.";
RL Neurology 68:2041-2042(2007).
RN [93]
RP VARIANT MSMA TRP-1845, AND VARIANT SPMM TRP-1845.
RX PubMed=17336526; DOI=10.1016/j.nmd.2007.01.010;
RA Pegoraro E., Gavassini B.F., Borsato C., Melacini P., Vianello A.,
RA Stramare R., Cenacchi G., Angelini C.;
RT "MYH7 gene mutation in myosin storage myopathy and scapulo-peroneal
RT myopathy.";
RL Neuromuscul. Disord. 17:321-329(2007).
RN [94]
RP VARIANTS CMH1 ASN-146; MET-606; HIS-663; GLN-719; MET-763; CYS-787;
RP VAL-908; LYS-924 AND MET-1414.
RX PubMed=18403758; DOI=10.1056/nejmoa075463;
RA Morita H., Rehm H.L., Menesses A., McDonough B., Roberts A.E.,
RA Kucherlapati R., Towbin J.A., Seidman J.G., Seidman C.E.;
RT "Shared genetic causes of cardiac hypertrophy in children and adults.";
RL N. Engl. J. Med. 358:1899-1908(2008).
RN [95]
RP VARIANTS CMD1S 1101-GLY--LEU-1104 DEL; ALA-1044; GLU-1263 AND VAL-1297.
RX PubMed=21846512; DOI=10.1016/j.ejmg.2011.07.005;
RA Millat G., Bouvagnet P., Chevalier P., Sebbag L., Dulac A., Dauphin C.,
RA Jouk P.S., Delrue M.A., Thambo J.B., Le Metayer P., Seronde M.F.,
RA Faivre L., Eicher J.C., Rousson R.;
RT "Clinical and mutational spectrum in a cohort of 105 unrelated patients
RT with dilated cardiomyopathy.";
RL Eur. J. Med. Genet. 54:E570-E575(2011).
RN [96]
RP VARIANT CMH1 LYS-1752.
RX PubMed=25182012; DOI=10.1007/s00246-014-1002-7;
RA Lee D.D., Veith R.L., Dimmock D.P., Samyn M.M.;
RT "Hypertrophic cardiomyopathy: a new mutation illustrates the need for
RT family-centered care.";
RL Pediatr. Cardiol. 35:1474-1477(2014).
CC -!- FUNCTION: Myosins are actin-based motor molecules with ATPase activity
CC essential for muscle contraction. Forms regular bipolar thick filaments
CC that, together with actin thin filaments, constitute the fundamental
CC contractile unit of skeletal and cardiac muscle.
CC {ECO:0000305|PubMed:26150528, ECO:0000305|PubMed:26246073}.
CC -!- SUBUNIT: Muscle myosin is a hexameric protein that consists of 2 heavy
CC chain subunits (MHC), 2 alkali light chain subunits (MLC) and 2
CC regulatory light chain subunits (MLC-2). Interacts with ECPAS
CC (PubMed:20682791). Interacts (via C-terminus) with LRRC39
CC (PubMed:20847312). {ECO:0000269|PubMed:20682791,
CC ECO:0000269|PubMed:20847312}.
CC -!- INTERACTION:
CC P12883; Q5SYC1: CLVS2; NbExp=3; IntAct=EBI-519141, EBI-12357161;
CC P12883; Q9BQD3: KXD1; NbExp=3; IntAct=EBI-519141, EBI-739657;
CC P12883; Q96DD0: LRRC39; NbExp=3; IntAct=EBI-519141, EBI-9539130;
CC -!- SUBCELLULAR LOCATION: Cytoplasm, myofibril
CC {ECO:0000250|UniProtKB:P02564}. Cytoplasm, myofibril, sarcomere
CC {ECO:0000250|UniProtKB:P02564}. Note=Thick filaments of the myofibrils.
CC {ECO:0000250|UniProtKB:P02564}.
CC -!- TISSUE SPECIFICITY: Both wild type and variant Gln-403 are detected in
CC skeletal muscle (at protein level). {ECO:0000269|PubMed:8514894}.
CC -!- DOMAIN: The rodlike tail sequence is highly repetitive, showing cycles
CC of a 28-residue repeat pattern composed of 4 heptapeptides,
CC characteristic for alpha-helical coiled coils (PubMed:26150528,
CC PubMed:26573747). Four skip residues (Skip1: Thr-1188, Skip2: Glu-1385,
CC Skip3: Glu-1582 and Skip4: Gly-1807) introduce discontinuities in the
CC coiled-coil heptad repeats. The first three skip residues are
CC structurally comparable and induce a unique local relaxation of the
CC coiled-coil superhelical pitch and the fourth skip residue lies within
CC a highly flexible molecular hinge that is necessary for myosin
CC incorporation in the bare zone of sarcomeres (PubMed:26150528).
CC {ECO:0000269|PubMed:26150528, ECO:0000269|PubMed:26573747}.
CC -!- DOMAIN: Limited proteolysis of myosin heavy chain produces 1 light
CC meromyosin (LMM) and 1 heavy meromyosin (HMM). HMM can be further
CC cleaved into 2 globular subfragments (S1) and 1 rod-shaped subfragment
CC (S2). {ECO:0000305}.
CC -!- DISEASE: Cardiomyopathy, familial hypertrophic 1 (CMH1) [MIM:192600]: A
CC hereditary heart disorder characterized by ventricular hypertrophy,
CC which is usually asymmetric and often involves the interventricular
CC septum. The symptoms include dyspnea, syncope, collapse, palpitations,
CC and chest pain. They can be readily provoked by exercise. The disorder
CC has inter- and intrafamilial variability ranging from benign to
CC malignant forms with high risk of cardiac failure and sudden cardiac
CC death. {ECO:0000269|PubMed:10065021, ECO:0000269|PubMed:10329202,
CC ECO:0000269|PubMed:10521296, ECO:0000269|PubMed:10563488,
CC ECO:0000269|PubMed:10679957, ECO:0000269|PubMed:10862102,
CC ECO:0000269|PubMed:11113006, ECO:0000269|PubMed:11133230,
CC ECO:0000269|PubMed:11214007, ECO:0000269|PubMed:11424919,
CC ECO:0000269|PubMed:11733062, ECO:0000269|PubMed:11861413,
CC ECO:0000269|PubMed:11968089, ECO:0000269|PubMed:12081993,
CC ECO:0000269|PubMed:12566107, ECO:0000269|PubMed:12590187,
CC ECO:0000269|PubMed:12707239, ECO:0000269|PubMed:12818575,
CC ECO:0000269|PubMed:12820698, ECO:0000269|PubMed:12951062,
CC ECO:0000269|PubMed:12974739, ECO:0000269|PubMed:12975413,
CC ECO:0000269|PubMed:1417858, ECO:0000269|PubMed:15358028,
CC ECO:0000269|PubMed:15483641, ECO:0000269|PubMed:1552912,
CC ECO:0000269|PubMed:15563892, ECO:0000269|PubMed:15856146,
CC ECO:0000269|PubMed:15858117, ECO:0000269|PubMed:16199542,
CC ECO:0000269|PubMed:16267253, ECO:0000269|PubMed:1638703,
CC ECO:0000269|PubMed:16650083, ECO:0000269|PubMed:16938236,
CC ECO:0000269|PubMed:17095604, ECO:0000269|PubMed:17372140,
CC ECO:0000269|PubMed:18175163, ECO:0000269|PubMed:18403758,
CC ECO:0000269|PubMed:1975517, ECO:0000269|PubMed:25182012,
CC ECO:0000269|PubMed:7581410, ECO:0000269|PubMed:7731997,
CC ECO:0000269|PubMed:7848441, ECO:0000269|PubMed:7874131,
CC ECO:0000269|PubMed:8250038, ECO:0000269|PubMed:8254035,
CC ECO:0000269|PubMed:8268932, ECO:0000269|PubMed:8282798,
CC ECO:0000269|PubMed:8343162, ECO:0000269|PubMed:8435239,
CC ECO:0000269|PubMed:8483915, ECO:0000269|PubMed:8655135,
CC ECO:0000269|PubMed:8899546, ECO:0000269|PubMed:9544842,
CC ECO:0000269|PubMed:9822100, ECO:0000269|PubMed:9829907}. Note=The
CC disease is caused by variants affecting the gene represented in this
CC entry.
CC -!- DISEASE: Myopathy, myosin storage, autosomal dominant (MSMA)
CC [MIM:608358]: A rare congenital myopathy characterized by
CC subsarcolemmal hyalinized bodies in type 1 muscle fibers.
CC {ECO:0000269|PubMed:14520662, ECO:0000269|PubMed:15136674,
CC ECO:0000269|PubMed:16684601, ECO:0000269|PubMed:17336526}. Note=The
CC disease is caused by variants affecting the gene represented in this
CC entry.
CC -!- DISEASE: Scapuloperoneal myopathy MYH7-related (SPMM) [MIM:181430]:
CC Progressive muscular atrophia beginning in the lower legs and affecting
CC the shoulder region earlier and more severely than distal arm.
CC {ECO:0000269|PubMed:17336526}. Note=The disease is caused by variants
CC affecting the gene represented in this entry.
CC -!- DISEASE: Cardiomyopathy, dilated 1S (CMD1S) [MIM:613426]: A disorder
CC characterized by ventricular dilation and impaired systolic function,
CC resulting in congestive heart failure and arrhythmia. Patients are at
CC risk of premature death. {ECO:0000269|PubMed:11106718,
CC ECO:0000269|PubMed:12379228, ECO:0000269|PubMed:15769782,
CC ECO:0000269|PubMed:18506004, ECO:0000269|PubMed:21127202,
CC ECO:0000269|PubMed:21846512}. Note=The disease is caused by variants
CC affecting the gene represented in this entry.
CC -!- DISEASE: Myopathy, distal, 1 (MPD1) [MIM:160500]: A muscular disorder
CC characterized by early-onset selective weakness of the great toe and
CC ankle dorsiflexors, followed by weakness of the finger extensors. Mild
CC proximal weakness occasionally develops years later after the onset of
CC the disease. {ECO:0000269|PubMed:15322983,
CC ECO:0000269|PubMed:17548557}. Note=The disease is caused by variants
CC affecting the gene represented in this entry.
CC -!- DISEASE: Myopathy, myosin storage, autosomal recessive (MSMB)
CC [MIM:255160]: An autosomal recessive form of myosin storage myopathy, a
CC muscle disease characterized by subsarcolemmal accumulation of
CC hyalinized bodies in type 1 muscle fibers. MSMB clinical features
CC include muscle weakness, type II respiratory failure and cardiac
CC failure, due to hypertrophic cardiomyopathy.
CC {ECO:0000269|PubMed:25666907}. Note=The disease is caused by variants
CC affecting the gene represented in this entry.
CC -!- DISEASE: Left ventricular non-compaction 5 (LVNC5) [MIM:613426]: A form
CC of left ventricular non-compaction, a cardiomyopathy due to myocardial
CC morphogenesis arrest and characterized by a hypertrophic left
CC ventricle, a severely thickened 2-layered myocardium, numerous
CC prominent trabeculations, deep intertrabecular recesses, and poor
CC systolic function. Clinical manifestations are variable. Some affected
CC individuals experience no symptoms at all, others develop heart
CC failure. In some cases, left ventricular non-compaction is associated
CC with other congenital heart anomalies. LVNC5 is an autosomal dominant
CC condition. {ECO:0000269|PubMed:18506004}. Note=The disease is caused by
CC variants affecting distinct genetic loci, including the gene
CC represented in this entry.
CC -!- MISCELLANEOUS: The cardiac alpha isoform is a 'fast' ATPase myosin,
CC while the beta isoform is a 'slow' ATPase.
CC -!- SIMILARITY: Belongs to the TRAFAC class myosin-kinesin ATPase
CC superfamily. Myosin family. {ECO:0000305}.
CC -!- CAUTION: Represents a conventional myosin. This protein should not be
CC confused with the unconventional myosin-7 (MYO7). {ECO:0000305}.
CC ---------------------------------------------------------------------------
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DR EMBL; M57965; AAA51837.1; -; Genomic_DNA.
DR EMBL; M58018; AAA62830.1; -; mRNA.
DR EMBL; X52889; CAA37068.1; -; Genomic_DNA.
DR EMBL; AJ238393; CAC20413.1; -; Genomic_DNA.
DR EMBL; EU747717; ACH92815.1; -; mRNA.
DR EMBL; EF179180; ABN05283.1; -; Genomic_DNA.
DR EMBL; CH471078; EAW66152.1; -; Genomic_DNA.
DR EMBL; BC112171; AAI12172.1; -; mRNA.
DR EMBL; BC112173; AAI12174.1; -; mRNA.
DR EMBL; M25135; AAA60384.1; -; Genomic_DNA.
DR EMBL; M25133; AAA60384.1; JOINED; Genomic_DNA.
DR EMBL; M25134; AAA60384.1; JOINED; Genomic_DNA.
DR EMBL; M27636; AAA79019.1; -; Genomic_DNA.
DR EMBL; X04627; CAA28300.1; -; Genomic_DNA.
DR EMBL; X04628; CAA28300.1; JOINED; Genomic_DNA.
DR EMBL; X04629; CAA28300.1; JOINED; Genomic_DNA.
DR EMBL; X04630; CAA28300.1; JOINED; Genomic_DNA.
DR EMBL; X04631; CAA28300.1; JOINED; Genomic_DNA.
DR EMBL; X04632; CAA28300.1; JOINED; Genomic_DNA.
DR EMBL; X04633; CAA28300.1; JOINED; Genomic_DNA.
DR EMBL; X51591; CAA35940.1; -; mRNA.
DR EMBL; X03741; CAA27381.1; ALT_SEQ; mRNA.
DR EMBL; X06976; CAA30039.1; -; mRNA.
DR EMBL; M17712; AAA36343.1; -; mRNA.
DR EMBL; M21665; AAA36345.1; -; mRNA.
DR EMBL; X05631; CAA29119.1; -; mRNA.
DR CCDS; CCDS9601.1; -.
DR PIR; A37102; A37102.
DR RefSeq; NP_000248.2; NM_000257.3.
DR RefSeq; XP_016876829.1; XM_017021340.1.
DR PDB; 2FXM; X-ray; 2.70 A; A/B=838-963.
DR PDB; 2FXO; X-ray; 2.50 A; A/B/C/D=838-963.
DR PDB; 3DTP; EM; 20.00 A; A=842-961, B=842-963.
DR PDB; 4DB1; X-ray; 2.60 A; A/B=2-783.
DR PDB; 4P7H; X-ray; 3.20 A; A/B=1-787.
DR PDB; 4PA0; X-ray; 2.25 A; A/B=1-787.
DR PDB; 4XA1; X-ray; 3.20 A; A/B/C/D=1173-1238.
DR PDB; 4XA3; X-ray; 2.55 A; A/B=1361-1425.
DR PDB; 4XA4; X-ray; 2.33 A; A/B=1551-1609.
DR PDB; 4XA6; X-ray; 3.42 A; A/B/C/D=1777-1855.
DR PDB; 5CHX; X-ray; 2.30 A; A/B=1590-1657.
DR PDB; 5CJ0; X-ray; 2.30 A; A/B=1631-1692.
DR PDB; 5CJ1; X-ray; 2.10 A; A/B/C/D/E/F/G/H=1526-1571.
DR PDB; 5CJ4; X-ray; 3.10 A; A/B/C/D=1562-1622.
DR PDB; 5TBY; EM; 20.00 A; A/B=1-1935.
DR PDB; 5WJ7; X-ray; 2.50 A; A/B=1733-1797.
DR PDB; 5WJB; X-ray; 2.90 A; A/B/C/D=1733-1797.
DR PDB; 5WLQ; X-ray; 3.10 A; A=1677-1755.
DR PDB; 5WLZ; X-ray; 3.50 A; A/B/C/D=1677-1758.
DR PDB; 5WME; X-ray; 2.30 A; A/B/C/D=1730-1786.
DR PDB; 6PF2; X-ray; 2.17 A; A/B=1217-1276.
DR PDB; 6PFP; X-ray; 2.20 A; A/B/C/D=1473-1536.
DR PDBsum; 2FXM; -.
DR PDBsum; 2FXO; -.
DR PDBsum; 3DTP; -.
DR PDBsum; 4DB1; -.
DR PDBsum; 4P7H; -.
DR PDBsum; 4PA0; -.
DR PDBsum; 4XA1; -.
DR PDBsum; 4XA3; -.
DR PDBsum; 4XA4; -.
DR PDBsum; 4XA6; -.
DR PDBsum; 5CHX; -.
DR PDBsum; 5CJ0; -.
DR PDBsum; 5CJ1; -.
DR PDBsum; 5CJ4; -.
DR PDBsum; 5TBY; -.
DR PDBsum; 5WJ7; -.
DR PDBsum; 5WJB; -.
DR PDBsum; 5WLQ; -.
DR PDBsum; 5WLZ; -.
DR PDBsum; 5WME; -.
DR PDBsum; 6PF2; -.
DR PDBsum; 6PFP; -.
DR AlphaFoldDB; P12883; -.
DR SMR; P12883; -.
DR BioGRID; 110710; 88.
DR IntAct; P12883; 39.
DR MINT; P12883; -.
DR STRING; 9606.ENSP00000347507; -.
DR ChEMBL; CHEMBL3831286; -.
DR DrugBank; DB08378; 4-[4-(2,5-DIOXO-PYRROLIDIN-1-YL)-PHENYLAMINO]-4-HYDROXY-BUTYRIC ACID.
DR CarbonylDB; P12883; -.
DR GlyGen; P12883; 1 site, 1 O-linked glycan (1 site).
DR iPTMnet; P12883; -.
DR PhosphoSitePlus; P12883; -.
DR BioMuta; MYH7; -.
DR DMDM; 83304912; -.
DR UCD-2DPAGE; P12883; -.
DR EPD; P12883; -.
DR jPOST; P12883; -.
DR MassIVE; P12883; -.
DR MaxQB; P12883; -.
DR PaxDb; P12883; -.
DR PeptideAtlas; P12883; -.
DR PRIDE; P12883; -.
DR ProteomicsDB; 52883; -.
DR ABCD; P12883; 2 sequenced antibodies.
DR Antibodypedia; 92; 314 antibodies from 31 providers.
DR DNASU; 4625; -.
DR Ensembl; ENST00000355349.4; ENSP00000347507.3; ENSG00000092054.13.
DR GeneID; 4625; -.
DR KEGG; hsa:4625; -.
DR MANE-Select; ENST00000355349.4; ENSP00000347507.3; NM_000257.4; NP_000248.2.
DR UCSC; uc001wjx.4; human.
DR CTD; 4625; -.
DR DisGeNET; 4625; -.
DR GeneCards; MYH7; -.
DR GeneReviews; MYH7; -.
DR HGNC; HGNC:7577; MYH7.
DR HPA; ENSG00000092054; Group enriched (heart muscle, skeletal muscle, tongue).
DR MalaCards; MYH7; -.
DR MIM; 160500; phenotype.
DR MIM; 160760; gene.
DR MIM; 181430; phenotype.
DR MIM; 192600; phenotype.
DR MIM; 255160; phenotype.
DR MIM; 608358; phenotype.
DR MIM; 613426; phenotype.
DR neXtProt; NX_P12883; -.
DR OpenTargets; ENSG00000092054; -.
DR Orphanet; 324604; Classic multiminicore myopathy.
DR Orphanet; 1880; Ebstein malformation of the tricuspid valve.
DR Orphanet; 154; Familial isolated dilated cardiomyopathy.
DR Orphanet; 53698; Hyaline body myopathy.
DR Orphanet; 59135; Laing early-onset distal myopathy.
DR Orphanet; 54260; Left ventricular noncompaction.
DR Orphanet; 437572; MYH7-related late-onset scapuloperoneal muscular dystrophy.
DR Orphanet; 155; NON RARE IN EUROPE: Familial isolated hypertrophic cardiomyopathy.
DR PharmGKB; PA31374; -.
DR VEuPathDB; HostDB:ENSG00000092054; -.
DR eggNOG; KOG0161; Eukaryota.
DR GeneTree; ENSGT00940000159432; -.
DR HOGENOM; CLU_000192_8_1_1; -.
DR InParanoid; P12883; -.
DR OMA; YFVSQGK; -.
DR OrthoDB; 47111at2759; -.
DR PhylomeDB; P12883; -.
DR TreeFam; TF314375; -.
DR PathwayCommons; P12883; -.
DR SignaLink; P12883; -.
DR SIGNOR; P12883; -.
DR BioGRID-ORCS; 4625; 9 hits in 1073 CRISPR screens.
DR ChiTaRS; MYH7; human.
DR EvolutionaryTrace; P12883; -.
DR GeneWiki; MYH7; -.
DR GenomeRNAi; 4625; -.
DR Pharos; P12883; Tbio.
DR PRO; PR:P12883; -.
DR Proteomes; UP000005640; Chromosome 14.
DR RNAct; P12883; protein.
DR Bgee; ENSG00000092054; Expressed in apex of heart and 103 other tissues.
DR Genevisible; P12883; HS.
DR GO; GO:0005859; C:muscle myosin complex; TAS:UniProtKB.
DR GO; GO:0030016; C:myofibril; ISS:UniProtKB.
DR GO; GO:0016459; C:myosin complex; TAS:HGNC-UCL.
DR GO; GO:0032982; C:myosin filament; IDA:BHF-UCL.
DR GO; GO:0016460; C:myosin II complex; IBA:GO_Central.
DR GO; GO:0030017; C:sarcomere; ISS:UniProtKB.
DR GO; GO:0001725; C:stress fiber; IEA:Ensembl.
DR GO; GO:0030018; C:Z disc; IEA:Ensembl.
DR GO; GO:0051015; F:actin filament binding; IBA:GO_Central.
DR GO; GO:0005524; F:ATP binding; IEA:UniProtKB-KW.
DR GO; GO:0005516; F:calmodulin binding; IEA:UniProtKB-KW.
DR GO; GO:0000146; F:microfilament motor activity; IDA:BHF-UCL.
DR GO; GO:0007512; P:adult heart development; IMP:HGNC-UCL.
DR GO; GO:0046034; P:ATP metabolic process; IDA:BHF-UCL.
DR GO; GO:0060048; P:cardiac muscle contraction; IMP:BHF-UCL.
DR GO; GO:0014898; P:cardiac muscle hypertrophy in response to stress; IEA:Ensembl.
DR GO; GO:0006936; P:muscle contraction; IDA:HGNC-UCL.
DR GO; GO:0030049; P:muscle filament sliding; IMP:HGNC-UCL.
DR GO; GO:0002027; P:regulation of heart rate; IDA:HGNC-UCL.
DR GO; GO:0031449; P:regulation of slow-twitch skeletal muscle fiber contraction; IMP:BHF-UCL.
DR GO; GO:0002026; P:regulation of the force of heart contraction; IDA:BHF-UCL.
DR GO; GO:0014728; P:regulation of the force of skeletal muscle contraction; IMP:BHF-UCL.
DR GO; GO:0045214; P:sarcomere organization; IBA:GO_Central.
DR GO; GO:0003009; P:skeletal muscle contraction; IMP:BHF-UCL.
DR GO; GO:0006941; P:striated muscle contraction; IDA:BHF-UCL.
DR GO; GO:0014883; P:transition between fast and slow fiber; IEA:Ensembl.
DR GO; GO:0055010; P:ventricular cardiac muscle tissue morphogenesis; IMP:HGNC-UCL.
DR Gene3D; 1.20.5.370; -; 4.
DR Gene3D; 2.30.30.360; -; 1.
DR Gene3D; 3.40.850.10; -; 1.
DR InterPro; IPR000048; IQ_motif_EF-hand-BS.
DR InterPro; IPR036961; Kinesin_motor_dom_sf.
DR InterPro; IPR001609; Myosin_head_motor_dom.
DR InterPro; IPR004009; Myosin_N.
DR InterPro; IPR008989; Myosin_S1_N.
DR InterPro; IPR002928; Myosin_tail.
DR InterPro; IPR027417; P-loop_NTPase.
DR InterPro; IPR014751; XRCC4-like_C.
DR Pfam; PF00063; Myosin_head; 1.
DR Pfam; PF02736; Myosin_N; 1.
DR Pfam; PF01576; Myosin_tail_1; 1.
DR PRINTS; PR00193; MYOSINHEAVY.
DR SMART; SM00015; IQ; 1.
DR SMART; SM00242; MYSc; 1.
DR SUPFAM; SSF52540; SSF52540; 1.
DR PROSITE; PS50096; IQ; 1.
DR PROSITE; PS51456; MYOSIN_MOTOR; 1.
DR PROSITE; PS51844; SH3_LIKE; 1.
PE 1: Evidence at protein level;
KW 3D-structure; Actin-binding; ATP-binding; Calmodulin-binding;
KW Cardiomyopathy; Coiled coil; Cytoplasm; Disease variant; Methylation;
KW Motor protein; Muscle protein; Myosin; Nucleotide-binding; Phosphoprotein;
KW Reference proteome; Thick filament.
FT CHAIN 1..1935
FT /note="Myosin-7"
FT /id="PRO_0000123407"
FT DOMAIN 32..81
FT /note="Myosin N-terminal SH3-like"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU01190"
FT DOMAIN 85..778
FT /note="Myosin motor"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00782"
FT DOMAIN 781..810
FT /note="IQ"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00116"
FT REGION 655..677
FT /note="Actin-binding"
FT REGION 757..771
FT /note="Actin-binding"
FT REGION 1907..1935
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COILED 839..1935
FT /evidence="ECO:0000255, ECO:0000269|PubMed:26150528,
FT ECO:0000269|PubMed:26573747"
FT BINDING 178..185
FT /ligand="ATP"
FT /ligand_id="ChEBI:CHEBI:30616"
FT MOD_RES 129
FT /note="N6,N6,N6-trimethyllysine"
FT /evidence="ECO:0000255"
FT MOD_RES 378
FT /note="Phosphothreonine"
FT /evidence="ECO:0000250|UniProtKB:P02563"
FT MOD_RES 1137
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:P02563"
FT MOD_RES 1269
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:Q02566"
FT MOD_RES 1282
FT /note="Phosphothreonine"
FT /evidence="ECO:0000250|UniProtKB:P02563"
FT MOD_RES 1308
FT /note="Phosphotyrosine"
FT /evidence="ECO:0000250|UniProtKB:P02563"
FT MOD_RES 1309
FT /note="Phosphothreonine"
FT /evidence="ECO:0000250|UniProtKB:P02563"
FT MOD_RES 1510
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:P02564"
FT MOD_RES 1513
FT /note="Phosphothreonine"
FT /evidence="ECO:0000250|UniProtKB:P02563"
FT VARIANT 3
FT /note="D -> A (in dbSNP:rs3729993)"
FT /id="VAR_029430"
FT VARIANT 26
FT /note="A -> V (in CMH1; dbSNP:rs186964570)"
FT /evidence="ECO:0000269|PubMed:15563892"
FT /id="VAR_004566"
FT VARIANT 39
FT /note="V -> M (in CMH1; dbSNP:rs376160714)"
FT /evidence="ECO:0000269|PubMed:12707239"
FT /id="VAR_019845"
FT VARIANT 59
FT /note="V -> I (in CMH1; dbSNP:rs771132107)"
FT /id="VAR_004567"
FT VARIANT 107
FT /note="D -> E (in dbSNP:rs2754166)"
FT /evidence="ECO:0000269|PubMed:2362820,
FT ECO:0000269|PubMed:2726733"
FT /id="VAR_017745"
FT VARIANT 115
FT /note="Y -> H (in CMH1; dbSNP:rs397516183)"
FT /evidence="ECO:0000269|PubMed:15358028"
FT /id="VAR_042762"
FT VARIANT 124
FT /note="T -> I (in CMH1; dbSNP:rs1184284157)"
FT /evidence="ECO:0000269|PubMed:7731997"
FT /id="VAR_020797"
FT VARIANT 143
FT /note="R -> G (in CMH1; dbSNP:rs727503278)"
FT /evidence="ECO:0000269|PubMed:12820698"
FT /id="VAR_042763"
FT VARIANT 143
FT /note="R -> Q (in CMH1; dbSNP:rs397516209)"
FT /evidence="ECO:0000269|PubMed:15358028,
FT ECO:0000269|PubMed:15563892"
FT /id="VAR_004568"
FT VARIANT 143
FT /note="R -> W (in CMH1; dbSNP:rs727503278)"
FT /evidence="ECO:0000269|PubMed:12974739"
FT /id="VAR_029431"
FT VARIANT 146
FT /note="K -> N (in CMH1; dbSNP:rs397516212)"
FT /evidence="ECO:0000269|PubMed:16199542,
FT ECO:0000269|PubMed:18403758"
FT /id="VAR_042764"
FT VARIANT 148
FT /note="S -> I (in CMH1; dbSNP:rs772691929)"
FT /evidence="ECO:0000269|PubMed:12820698"
FT /id="VAR_042765"
FT VARIANT 162
FT /note="Y -> C (in CMH1; dbSNP:rs1057517771)"
FT /evidence="ECO:0000269|PubMed:7731997"
FT /id="VAR_020798"
FT VARIANT 186
FT /note="V -> L (in CMH1; dbSNP:rs786205906)"
FT /evidence="ECO:0000269|PubMed:16199542"
FT /id="VAR_042766"
FT VARIANT 187
FT /note="N -> K (in CMH1; dbSNP:rs1057517772)"
FT /evidence="ECO:0000269|PubMed:7731997"
FT /id="VAR_020799"
FT VARIANT 188
FT /note="T -> N (in CMH1; dbSNP:rs730880844)"
FT /evidence="ECO:0000269|PubMed:12707239"
FT /id="VAR_019846"
FT VARIANT 190
FT /note="R -> T (in CMH1; dbSNP:rs1159921588)"
FT /evidence="ECO:0000269|PubMed:10329202,
FT ECO:0000269|PubMed:12566107"
FT /id="VAR_020800"
FT VARIANT 196
FT /note="A -> T (in CMH1; dbSNP:rs1250974235)"
FT /evidence="ECO:0000269|PubMed:12975413"
FT /id="VAR_042767"
FT VARIANT 201
FT /note="I -> T (in CMD1S; dbSNP:rs397516258)"
FT /evidence="ECO:0000269|PubMed:15769782"
FT /id="VAR_042768"
FT VARIANT 204
FT /note="R -> H (in CMH1; dbSNP:rs397516260)"
FT /evidence="ECO:0000269|PubMed:12707239"
FT /id="VAR_019847"
FT VARIANT 207
FT /note="K -> Q (in CMH1; dbSNP:rs727504273)"
FT /evidence="ECO:0000269|PubMed:12820698"
FT /id="VAR_042769"
FT VARIANT 211
FT /note="P -> L (in CMH1; dbSNP:rs727503277)"
FT /evidence="ECO:0000269|PubMed:12820698,
FT ECO:0000269|PubMed:12975413, ECO:0000269|PubMed:15856146"
FT /id="VAR_042770"
FT VARIANT 222
FT /note="Q -> K (in CMH1; dbSNP:rs1060501445)"
FT /evidence="ECO:0000269|PubMed:7731997"
FT /id="VAR_020801"
FT VARIANT 223
FT /note="A -> T (in CMD1S; dbSNP:rs121913645)"
FT /evidence="ECO:0000269|PubMed:12379228"
FT /id="VAR_017746"
FT VARIANT 227
FT /note="L -> V (in CMH1; dbSNP:rs1230432463)"
FT /evidence="ECO:0000269|PubMed:15858117"
FT /id="VAR_042771"
FT VARIANT 232
FT /note="N -> S (in CMH1; dbSNP:rs1302598456)"
FT /evidence="ECO:0000269|PubMed:12707239"
FT /id="VAR_019848"
FT VARIANT 239
FT /note="Missing (in LVNC5)"
FT /evidence="ECO:0000269|PubMed:18506004"
FT /id="VAR_073875"
FT VARIANT 243
FT /note="R -> H (in CMH1 and LVNC5; dbSNP:rs267606910)"
FT /evidence="ECO:0000269|PubMed:16267253,
FT ECO:0000269|PubMed:18506004"
FT /id="VAR_073876"
FT VARIANT 244
FT /note="F -> L (in CMH1; dbSNP:rs730880849)"
FT /evidence="ECO:0000269|PubMed:7731997"
FT /id="VAR_020802"
FT VARIANT 249
FT /note="R -> Q (in CMH1; dbSNP:rs3218713)"
FT /evidence="ECO:0000269|PubMed:10065021,
FT ECO:0000269|PubMed:11133230, ECO:0000269|PubMed:11968089,
FT ECO:0000269|PubMed:12707239, ECO:0000269|PubMed:12975413,
FT ECO:0000269|PubMed:1552912"
FT /id="VAR_004569"
FT VARIANT 252
FT /note="F -> L (in LVNC5)"
FT /evidence="ECO:0000269|PubMed:18506004"
FT /id="VAR_080399"
FT VARIANT 256
FT /note="G -> E (in CMH1; dbSNP:rs121913633)"
FT /evidence="ECO:0000269|PubMed:8483915"
FT /id="VAR_004570"
FT VARIANT 263
FT /note="I -> M (in CMH1; dbSNP:rs730880855)"
FT /evidence="ECO:0000269|PubMed:15358028"
FT /id="VAR_042772"
FT VARIANT 263
FT /note="I -> T (in CMH1; dbSNP:rs397516269)"
FT /evidence="ECO:0000269|PubMed:12707239,
FT ECO:0000269|PubMed:9829907"
FT /id="VAR_004571"
FT VARIANT 283
FT /note="Y -> D (in CMD1S; dbSNP:rs397515482)"
FT /evidence="ECO:0000269|PubMed:21127202"
FT /id="VAR_073877"
FT VARIANT 312
FT /note="F -> C (in CMH1; dbSNP:rs1244223899)"
FT /evidence="ECO:0000269|PubMed:15358028"
FT /id="VAR_042773"
FT VARIANT 320
FT /note="V -> M (in CMH1; dbSNP:rs376897125)"
FT /evidence="ECO:0000269|PubMed:12566107"
FT /id="VAR_020803"
FT VARIANT 328
FT /note="E -> G (in CMH1; dbSNP:rs1459392243)"
FT /evidence="ECO:0000269|PubMed:15858117"
FT /id="VAR_042774"
FT VARIANT 349
FT /note="M -> T (in CMH1; dbSNP:rs121913640)"
FT /evidence="ECO:0000269|PubMed:11968089,
FT ECO:0000269|PubMed:15358028, ECO:0000269|PubMed:9544842"
FT /id="VAR_004572"
FT VARIANT 350
FT /note="Y -> N (in CMD1S)"
FT /evidence="ECO:0000269|PubMed:21127202"
FT /id="VAR_073878"
FT VARIANT 351
FT /note="K -> E (in CMH1; dbSNP:rs730880864)"
FT /evidence="ECO:0000269|PubMed:12820698,
FT ECO:0000269|PubMed:15858117"
FT /id="VAR_042775"
FT VARIANT 355
FT /note="A -> T (in CMH1; dbSNP:rs397516088)"
FT /evidence="ECO:0000269|PubMed:12707239"
FT /id="VAR_019849"
FT VARIANT 383
FT /note="K -> N (in CMH1; dbSNP:rs1378946537)"
FT /evidence="ECO:0000269|PubMed:8899546"
FT /id="VAR_042776"
FT VARIANT 385
FT /note="A -> V (in CMH1; dbSNP:rs1275734785)"
FT /evidence="ECO:0000269|PubMed:15358028"
FT /id="VAR_042777"
FT VARIANT 390
FT /note="L -> P (in CMD1S)"
FT /evidence="ECO:0000269|PubMed:21127202"
FT /id="VAR_073879"
FT VARIANT 390
FT /note="L -> V (in CMH1)"
FT /evidence="ECO:0000269|PubMed:11214007,
FT ECO:0000269|PubMed:12566107"
FT /id="VAR_020804"
FT VARIANT 403
FT /note="R -> L (in CMH1; dbSNP:rs121913624)"
FT /evidence="ECO:0000269|PubMed:12707239,
FT ECO:0000269|PubMed:8254035"
FT /id="VAR_004573"
FT VARIANT 403
FT /note="R -> Q (in CMH1; dbSNP:rs121913624)"
FT /evidence="ECO:0000269|PubMed:11968089,
FT ECO:0000269|PubMed:12707239, ECO:0000269|PubMed:12820698,
FT ECO:0000269|PubMed:12975413, ECO:0000269|PubMed:15358028,
FT ECO:0000269|PubMed:1552912, ECO:0000269|PubMed:15858117,
FT ECO:0000269|PubMed:1638703, ECO:0000269|PubMed:1975517,
FT ECO:0000269|PubMed:8250038, ECO:0000269|PubMed:8514894"
FT /id="VAR_004574"
FT VARIANT 403
FT /note="R -> W (in CMH1; dbSNP:rs3218714)"
FT /evidence="ECO:0000269|PubMed:10521296,
FT ECO:0000269|PubMed:12707239, ECO:0000269|PubMed:12974739,
FT ECO:0000269|PubMed:15856146, ECO:0000269|PubMed:15858117,
FT ECO:0000269|PubMed:8254035, ECO:0000269|PubMed:8268932"
FT /id="VAR_004575"
FT VARIANT 404
FT /note="V -> L (in CMH1; dbSNP:rs730880867)"
FT /evidence="ECO:0000269|PubMed:12975413"
FT /id="VAR_042778"
FT VARIANT 404
FT /note="V -> M (in CMH1; dbSNP:rs730880867)"
FT /evidence="ECO:0000269|PubMed:15358028"
FT /id="VAR_042779"
FT VARIANT 406
FT /note="V -> M (in CMH1; dbSNP:rs1422611896)"
FT /evidence="ECO:0000269|PubMed:11133230"
FT /id="VAR_020805"
FT VARIANT 407
FT /note="G -> V (in CMH1; dbSNP:rs397516095)"
FT /evidence="ECO:0000269|PubMed:15358028"
FT /id="VAR_042780"
FT VARIANT 411
FT /note="V -> I (in CMH1; dbSNP:rs730880868)"
FT /evidence="ECO:0000269|PubMed:12974739,
FT ECO:0000269|PubMed:12975413, ECO:0000269|PubMed:15858117"
FT /id="VAR_029432"
FT VARIANT 412
FT /note="T -> N (in CMD1S; dbSNP:rs1428725625)"
FT /evidence="ECO:0000269|PubMed:15769782"
FT /id="VAR_042781"
FT VARIANT 425
FT /note="G -> R (in CMH1; dbSNP:rs397516097)"
FT /evidence="ECO:0000269|PubMed:15563892"
FT /id="VAR_042782"
FT VARIANT 428
FT /note="A -> V (in CMH1; dbSNP:rs727503266)"
FT /evidence="ECO:0000269|PubMed:12707239,
FT ECO:0000269|PubMed:15358028"
FT /id="VAR_019850"
FT VARIANT 430
FT /note="A -> E (in CMH1; dbSNP:rs1566535170)"
FT /evidence="ECO:0000269|PubMed:12818575"
FT /id="VAR_029433"
FT VARIANT 435
FT /note="M -> T (in CMH1; dbSNP:rs1484300349)"
FT /evidence="ECO:0000269|PubMed:15858117"
FT /id="VAR_042783"
FT VARIANT 440
FT /note="V -> M (in CMH1; dbSNP:rs397516098)"
FT /evidence="ECO:0000269|PubMed:15358028"
FT /id="VAR_042784"
FT VARIANT 441
FT /note="T -> M (in MPD1; dbSNP:rs121913653)"
FT /evidence="ECO:0000269|PubMed:17548557"
FT /id="VAR_042785"
FT VARIANT 443
FT /note="I -> T (in CMH1; dbSNP:rs1234112565)"
FT /evidence="ECO:0000269|PubMed:12707239"
FT /id="VAR_019851"
FT VARIANT 450
FT /note="K -> E (in CMH1; dbSNP:rs1403027088)"
FT /evidence="ECO:0000269|PubMed:10065021"
FT /id="VAR_042786"
FT VARIANT 450
FT /note="K -> T (in CMH1; dbSNP:rs1352198296)"
FT /evidence="ECO:0000269|PubMed:15563892"
FT /id="VAR_042787"
FT VARIANT 453
FT /note="R -> C (in CMH1; dbSNP:rs121913625)"
FT /evidence="ECO:0000269|PubMed:11133230,
FT ECO:0000269|PubMed:12707239, ECO:0000269|PubMed:12951062,
FT ECO:0000269|PubMed:12975413, ECO:0000269|PubMed:15358028,
FT ECO:0000269|PubMed:1552912, ECO:0000269|PubMed:15856146,
FT ECO:0000269|PubMed:15858117, ECO:0000269|PubMed:8250038,
FT ECO:0000269|PubMed:8655135"
FT /id="VAR_004576"
FT VARIANT 453
FT /note="R -> H (in CMH1; dbSNP:rs397516101)"
FT /evidence="ECO:0000269|PubMed:15858117"
FT /id="VAR_042788"
FT VARIANT 453
FT /note="R -> S (in CMH1; dbSNP:rs121913625)"
FT /evidence="ECO:0000269|PubMed:18175163"
FT /id="VAR_073880"
FT VARIANT 466
FT /note="E -> Q (in dbSNP:rs4981473)"
FT /id="VAR_029434"
FT VARIANT 479
FT /note="N -> S (in CMH1; dbSNP:rs727504236)"
FT /evidence="ECO:0000269|PubMed:12707239,
FT ECO:0000269|PubMed:12820698"
FT /id="VAR_019852"
FT VARIANT 483
FT /note="E -> K (in CMH1; dbSNP:rs121913651)"
FT /evidence="ECO:0000269|PubMed:12707239"
FT /id="VAR_019853"
FT VARIANT 497
FT /note="E -> D (in CMH1; dbSNP:rs267606911)"
FT /evidence="ECO:0000269|PubMed:16267253"
FT /id="VAR_073881"
FT VARIANT 499
FT /note="E -> K (in CMH1; dbSNP:rs3218715)"
FT /evidence="ECO:0000269|PubMed:10521296"
FT /id="VAR_020806"
FT VARIANT 500
FT /note="E -> A (in CMH1; dbSNP:rs727504286)"
FT /evidence="ECO:0000269|PubMed:12820698"
FT /id="VAR_042789"
FT VARIANT 501
FT /note="Y -> C (in CMH1; dbSNP:rs1288878100)"
FT /evidence="ECO:0000269|PubMed:15856146"
FT /id="VAR_042790"
FT VARIANT 511
FT /note="I -> F (in CMH1; dbSNP:rs1333791654)"
FT /evidence="ECO:0000269|PubMed:15563892"
FT /id="VAR_042791"
FT VARIANT 511
FT /note="I -> T (in CMH1; dbSNP:rs397516110)"
FT /evidence="ECO:0000269|PubMed:15358028"
FT /id="VAR_042792"
FT VARIANT 513
FT /note="F -> C (in CMH1; dbSNP:rs121913636)"
FT /evidence="ECO:0000269|PubMed:8282798"
FT /id="VAR_004577"
FT VARIANT 515
FT /note="M -> R (in CMH1; dbSNP:rs863224900)"
FT /evidence="ECO:0000269|PubMed:15358028"
FT /id="VAR_042793"
FT VARIANT 515
FT /note="M -> V (in CMH1; infrequent)"
FT /evidence="ECO:0000269|PubMed:16938236"
FT /id="VAR_039562"
FT VARIANT 517
FT /note="L -> M (in CMH1; dbSNP:rs727504237)"
FT /evidence="ECO:0000269|PubMed:12951062"
FT /id="VAR_029435"
FT VARIANT 532
FT /note="S -> P (in CMD1S; dbSNP:rs121913642)"
FT /evidence="ECO:0000269|PubMed:11106718"
FT /id="VAR_017747"
FT VARIANT 550
FT /note="A -> V (in CMD1S; dbSNP:rs1188606962)"
FT /evidence="ECO:0000269|PubMed:15769782"
FT /id="VAR_042794"
FT VARIANT 571
FT /note="G -> R (in CMH1; dbSNP:rs730880879)"
FT /evidence="ECO:0000269|PubMed:12820698"
FT /id="VAR_042795"
FT VARIANT 576
FT /note="H -> R (in CMH1; dbSNP:rs727504238)"
FT /evidence="ECO:0000269|PubMed:15856146"
FT /id="VAR_042796"
FT VARIANT 584
FT /note="G -> R (in CMH1; dbSNP:rs121913626)"
FT /evidence="ECO:0000269|PubMed:8250038"
FT /id="VAR_004578"
FT VARIANT 584
FT /note="G -> S (in CMH1; dbSNP:rs121913626)"
FT /evidence="ECO:0000269|PubMed:12974739"
FT /id="VAR_029436"
FT VARIANT 587
FT /note="D -> V (in CMH1; dbSNP:rs1285747856)"
FT /id="VAR_004579"
FT VARIANT 595
FT /note="Q -> R (in CMH1; dbSNP:rs1381638438)"
FT /evidence="ECO:0000269|PubMed:11968089"
FT /id="VAR_020807"
FT VARIANT 601
FT /note="L -> V (in CMH1; dbSNP:rs1131691685)"
FT /evidence="ECO:0000269|PubMed:12566107"
FT /id="VAR_020808"
FT VARIANT 602
FT /note="N -> S (in CMH1; dbSNP:rs730880880)"
FT /id="VAR_004580"
FT VARIANT 606
FT /note="V -> M (in CMH1; in cis with V-728 gives a more
FT severe phenotype; dbSNP:rs121913627)"
FT /evidence="ECO:0000269|PubMed:11133230,
FT ECO:0000269|PubMed:11968089, ECO:0000269|PubMed:12566107,
FT ECO:0000269|PubMed:12707239, ECO:0000269|PubMed:1552912,
FT ECO:0000269|PubMed:15858117, ECO:0000269|PubMed:16199542,
FT ECO:0000269|PubMed:18403758, ECO:0000269|PubMed:8250038"
FT /id="VAR_004581"
FT VARIANT 615
FT /note="K -> N (in CMH1; dbSNP:rs1164270609)"
FT /evidence="ECO:0000269|PubMed:1417858"
FT /id="VAR_004582"
FT VARIANT 615
FT /note="K -> Q (in CMH1)"
FT /evidence="ECO:0000269|PubMed:15563892"
FT /id="VAR_042797"
FT VARIANT 642
FT /note="S -> L (in CMD1S; dbSNP:rs121913646)"
FT /evidence="ECO:0000269|PubMed:12379228"
FT /id="VAR_017748"
FT VARIANT 659
FT /note="M -> I (in CMH1; dbSNP:rs1241603111)"
FT /evidence="ECO:0000269|PubMed:12707239"
FT /id="VAR_019854"
FT VARIANT 663
FT /note="R -> C (in CMH1; dbSNP:rs397516127)"
FT /evidence="ECO:0000269|PubMed:15358028,
FT ECO:0000269|PubMed:15563892, ECO:0000269|PubMed:15858117"
FT /id="VAR_042798"
FT VARIANT 663
FT /note="R -> H (in CMH1; dbSNP:rs371898076)"
FT /evidence="ECO:0000269|PubMed:11133230,
FT ECO:0000269|PubMed:12081993, ECO:0000269|PubMed:12707239,
FT ECO:0000269|PubMed:12820698, ECO:0000269|PubMed:15358028,
FT ECO:0000269|PubMed:15563892, ECO:0000269|PubMed:16199542,
FT ECO:0000269|PubMed:18403758, ECO:0000269|PubMed:7731997"
FT /id="VAR_019855"
FT VARIANT 663
FT /note="R -> S (in CMH1)"
FT /evidence="ECO:0000269|PubMed:12707239"
FT /id="VAR_019856"
FT VARIANT 671
FT /note="R -> C (in CMH1; dbSNP:rs727503263)"
FT /evidence="ECO:0000269|PubMed:12707239,
FT ECO:0000269|PubMed:12820698"
FT /id="VAR_019857"
FT VARIANT 694
FT /note="R -> C (in CMH1; dbSNP:rs727504240)"
FT /evidence="ECO:0000269|PubMed:10563488,
FT ECO:0000269|PubMed:12566107, ECO:0000269|PubMed:15358028"
FT /id="VAR_020809"
FT VARIANT 694
FT /note="R -> H (in CMH1; dbSNP:rs886039030)"
FT /evidence="ECO:0000269|PubMed:12974739"
FT /id="VAR_029437"
FT VARIANT 696
FT /note="N -> S (in CMH1; dbSNP:rs730880732)"
FT /evidence="ECO:0000269|PubMed:9822100"
FT /id="VAR_020810"
FT VARIANT 698
FT /note="V -> A (in CMH1; dbSNP:rs397516130)"
FT /evidence="ECO:0000269|PubMed:16199542"
FT /id="VAR_042799"
FT VARIANT 712
FT /note="R -> L (in CMH1; dbSNP:rs1224554825)"
FT /evidence="ECO:0000269|PubMed:10679957"
FT /id="VAR_020811"
FT VARIANT 716
FT /note="G -> R (in CMH1; dbSNP:rs121913638)"
FT /evidence="ECO:0000269|PubMed:12707239,
FT ECO:0000269|PubMed:12975413, ECO:0000269|PubMed:15358028,
FT ECO:0000269|PubMed:8282798"
FT /id="VAR_004583"
FT VARIANT 719
FT /note="R -> Q (in CMH1; dbSNP:rs121913641)"
FT /evidence="ECO:0000269|PubMed:10521296,
FT ECO:0000269|PubMed:11968089, ECO:0000269|PubMed:12707239,
FT ECO:0000269|PubMed:15358028, ECO:0000269|PubMed:15858117,
FT ECO:0000269|PubMed:16199542, ECO:0000269|PubMed:18403758,
FT ECO:0000269|PubMed:7848441"
FT /id="VAR_017749"
FT VARIANT 719
FT /note="R -> W (in CMH1; dbSNP:rs121913637)"
FT /evidence="ECO:0000269|PubMed:11968089,
FT ECO:0000269|PubMed:12081993, ECO:0000269|PubMed:12707239,
FT ECO:0000269|PubMed:12974739, ECO:0000269|PubMed:15858117,
FT ECO:0000269|PubMed:7874131, ECO:0000269|PubMed:8282798,
FT ECO:0000269|PubMed:9544842, ECO:0000269|PubMed:9822100,
FT ECO:0000269|PubMed:9829907"
FT /id="VAR_004584"
FT VARIANT 723
FT /note="R -> C (in CMH1; dbSNP:rs121913630)"
FT /evidence="ECO:0000269|PubMed:12707239,
FT ECO:0000269|PubMed:16199542, ECO:0000269|PubMed:9829907"
FT /id="VAR_004585"
FT VARIANT 723
FT /note="R -> G (in CMH1; malignant phenotype;
FT dbSNP:rs121913630)"
FT /evidence="ECO:0000269|PubMed:11113006"
FT /id="VAR_020812"
FT VARIANT 728
FT /note="A -> V (in CMH1; in cis with M-606 gives a more
FT severe phenotype; dbSNP:rs121913644)"
FT /evidence="ECO:0000269|PubMed:11424919"
FT /id="VAR_017750"
FT VARIANT 731
FT /note="P -> L (in CMH1; dbSNP:rs1247313340)"
FT /id="VAR_004586"
FT VARIANT 733
FT /note="G -> E (in CMH1; dbSNP:rs727504241)"
FT /evidence="ECO:0000269|PubMed:12707239"
FT /id="VAR_019858"
FT VARIANT 734
FT /note="Q -> E (in CMH1; dbSNP:rs1173617248)"
FT /evidence="ECO:0000269|PubMed:12951062"
FT /id="VAR_029438"
FT VARIANT 734
FT /note="Q -> P (in CMH1; dbSNP:rs863225097)"
FT /evidence="ECO:0000269|PubMed:15563892"
FT /id="VAR_042800"
FT VARIANT 736
FT /note="I -> M (in CMH1)"
FT /id="VAR_004587"
FT VARIANT 736
FT /note="I -> T (in CMH1; dbSNP:rs727503261)"
FT /evidence="ECO:0000269|PubMed:12820698,
FT ECO:0000269|PubMed:12974739, ECO:0000269|PubMed:15856146,
FT ECO:0000269|PubMed:16199542"
FT /id="VAR_029439"
FT VARIANT 741
FT /note="G -> R (in CMH1; dbSNP:rs121913632)"
FT /evidence="ECO:0000269|PubMed:12707239,
FT ECO:0000269|PubMed:15358028, ECO:0000269|PubMed:15563892,
FT ECO:0000269|PubMed:8483915"
FT /id="VAR_004588"
FT VARIANT 741
FT /note="G -> W (in CMH1; dbSNP:rs121913632)"
FT /evidence="ECO:0000269|PubMed:15856146"
FT /id="VAR_004589"
FT VARIANT 742
FT /note="A -> E (in CMH1; dbSNP:rs786205907)"
FT /evidence="ECO:0000269|PubMed:16199542"
FT /id="VAR_042801"
FT VARIANT 743
FT /note="E -> D (in CMH1; dbSNP:rs397516139)"
FT /evidence="ECO:0000269|PubMed:11733062"
FT /id="VAR_014199"
FT VARIANT 763
FT /note="V -> G (in CMH1; dbSNP:rs730880735)"
FT /evidence="ECO:0000269|PubMed:12820698"
FT /id="VAR_042802"
FT VARIANT 763
FT /note="V -> M (in CMH1; dbSNP:rs727504253)"
FT /evidence="ECO:0000269|PubMed:18403758"
FT /id="VAR_045926"
FT VARIANT 764
FT /note="F -> L (in CMD1S; dbSNP:rs121913643)"
FT /evidence="ECO:0000269|PubMed:11106718"
FT /id="VAR_017751"
FT VARIANT 768
FT /note="G -> R (in CMH1; dbSNP:rs727503260)"
FT /evidence="ECO:0000269|PubMed:12081993,
FT ECO:0000269|PubMed:12707239"
FT /id="VAR_019859"
FT VARIANT 774
FT /note="E -> V (in CMH1; dbSNP:rs1425960124)"
FT /evidence="ECO:0000269|PubMed:12590187"
FT /id="VAR_042803"
FT VARIANT 778
FT /note="D -> E (in CMH1; dbSNP:rs2069544)"
FT /evidence="ECO:0000269|PubMed:12566107,
FT ECO:0000269|PubMed:12707239"
FT /id="VAR_019860"
FT VARIANT 778
FT /note="D -> G (in CMH1; dbSNP:rs121913634)"
FT /evidence="ECO:0000269|PubMed:8343162"
FT /id="VAR_004590"
FT VARIANT 778
FT /note="D -> V (in CMH1; dbSNP:rs121913634)"
FT /evidence="ECO:0000269|PubMed:15358028"
FT /id="VAR_042804"
FT VARIANT 782
FT /note="S -> N (in CMH1; dbSNP:rs886039185)"
FT /evidence="ECO:0000269|PubMed:12590187,
FT ECO:0000269|PubMed:12820698, ECO:0000269|PubMed:7731997"
FT /id="VAR_020813"
FT VARIANT 787
FT /note="R -> C (in CMH1; dbSNP:rs145677314)"
FT /evidence="ECO:0000269|PubMed:18403758"
FT /id="VAR_045927"
FT VARIANT 787
FT /note="R -> H (in CMH1; dbSNP:rs376754645)"
FT /evidence="ECO:0000269|PubMed:12707239,
FT ECO:0000269|PubMed:15858117"
FT /id="VAR_019861"
FT VARIANT 796
FT /note="L -> F (in CMH1; dbSNP:rs1222361739)"
FT /evidence="ECO:0000269|PubMed:12974739"
FT /id="VAR_029440"
FT VARIANT 797
FT /note="A -> T (in CMH1; dbSNP:rs3218716)"
FT /evidence="ECO:0000269|PubMed:10521296,
FT ECO:0000269|PubMed:15358028, ECO:0000269|PubMed:7581410"
FT /id="VAR_004591"
FT VARIANT 822
FT /note="M -> L (in CMH1; dbSNP:rs730880742)"
FT /evidence="ECO:0000269|PubMed:12820698"
FT /id="VAR_042805"
FT VARIANT 822
FT /note="M -> T (in CMH1; dbSNP:rs1373092362)"
FT /evidence="ECO:0000269|PubMed:15563892"
FT /id="VAR_042806"
FT VARIANT 823
FT /note="G -> E (in CMH1; dbSNP:rs1278076805)"
FT /evidence="ECO:0000269|PubMed:15563892"
FT /id="VAR_042807"
FT VARIANT 824
FT /note="V -> I (in CMH1; dbSNP:rs397516149)"
FT /evidence="ECO:0000269|PubMed:12974739"
FT /id="VAR_029441"
FT VARIANT 846
FT /note="E -> Q (in CMH1; dbSNP:rs730880748)"
FT /evidence="ECO:0000269|PubMed:12566107"
FT /id="VAR_020814"
FT VARIANT 847
FT /note="Missing (in CMH1; dbSNP:rs397516155)"
FT /evidence="ECO:0000269|PubMed:15358028"
FT /id="VAR_042808"
FT VARIANT 852
FT /note="M -> T (in CMH1; dbSNP:rs397516157)"
FT /evidence="ECO:0000269|PubMed:12707239"
FT /id="VAR_019862"
FT VARIANT 858
FT /note="R -> C (in CMH1; infrequent; dbSNP:rs2754158)"
FT /evidence="ECO:0000269|PubMed:15358028,
FT ECO:0000269|PubMed:16938236"
FT /id="VAR_039563"
FT VARIANT 858
FT /note="R -> H (in CMH1; dbSNP:rs2856897)"
FT /evidence="ECO:0000269|PubMed:15563892"
FT /id="VAR_042809"
FT VARIANT 869
FT /note="R -> C (in CMH1; dbSNP:rs730880750)"
FT /evidence="ECO:0000269|PubMed:10862102"
FT /id="VAR_020815"
FT VARIANT 869
FT /note="R -> G (in CMH1; dbSNP:rs730880750)"
FT /evidence="ECO:0000269|PubMed:12707239"
FT /id="VAR_019863"
FT VARIANT 869
FT /note="R -> H (in CMH1; dbSNP:rs202141173)"
FT /evidence="ECO:0000269|PubMed:15358028"
FT /id="VAR_042810"
FT VARIANT 870
FT /note="R -> C (in CMH1; dbSNP:rs138049878)"
FT /evidence="ECO:0000269|PubMed:10862102,
FT ECO:0000269|PubMed:12975413"
FT /id="VAR_020816"
FT VARIANT 870
FT /note="R -> H (in CMH1; dbSNP:rs36211715)"
FT /evidence="ECO:0000269|PubMed:12974739,
FT ECO:0000269|PubMed:16650083, ECO:0000269|PubMed:7731997"
FT /id="VAR_004592"
FT VARIANT 877
FT /note="M -> K (in CMH1; dbSNP:rs1282663873)"
FT /evidence="ECO:0000269|PubMed:11133230"
FT /id="VAR_020817"
FT VARIANT 882
FT /note="Q -> E (in CMH1; dbSNP:rs397516160)"
FT /evidence="ECO:0000269|PubMed:12820698"
FT /id="VAR_042811"
FT VARIANT 883
FT /note="Missing (in CMH1; dbSNP:rs1314609309)"
FT /evidence="ECO:0000269|PubMed:12707239"
FT /id="VAR_019864"
FT VARIANT 894
FT /note="E -> G (in CMH1; dbSNP:rs397516161)"
FT /evidence="ECO:0000269|PubMed:15358028,
FT ECO:0000269|PubMed:15858117"
FT /id="VAR_042812"
FT VARIANT 901
FT /note="A -> G (in CMH1; dbSNP:rs1406848007)"
FT /evidence="ECO:0000269|PubMed:15856146"
FT /id="VAR_042813"
FT VARIANT 905
FT /note="C -> F (in CMH1; dbSNP:rs730880757)"
FT /evidence="ECO:0000269|PubMed:12974739"
FT /id="VAR_029442"
FT VARIANT 906
FT /note="D -> G (in CMH1; dbSNP:rs267606908)"
FT /evidence="ECO:0000269|PubMed:12081993,
FT ECO:0000269|PubMed:16267253"
FT /id="VAR_042814"
FT VARIANT 908
FT /note="L -> V (in CMH1; dbSNP:rs121913631)"
FT /evidence="ECO:0000269|PubMed:12820698,
FT ECO:0000269|PubMed:12975413, ECO:0000269|PubMed:15358028,
FT ECO:0000269|PubMed:15858117, ECO:0000269|PubMed:1638703,
FT ECO:0000269|PubMed:18403758, ECO:0000269|PubMed:8435239"
FT /id="VAR_004593"
FT VARIANT 921
FT /note="E -> K (in CMH1; dbSNP:rs730880759)"
FT /evidence="ECO:0000269|PubMed:15358028"
FT /id="VAR_042815"
FT VARIANT 924
FT /note="E -> K (in CMH1; dbSNP:rs121913628)"
FT /evidence="ECO:0000269|PubMed:12818575,
FT ECO:0000269|PubMed:15358028, ECO:0000269|PubMed:15563892,
FT ECO:0000269|PubMed:18403758"
FT /id="VAR_004594"
FT VARIANT 924
FT /note="E -> Q (in CMH1; dbSNP:rs121913628)"
FT /evidence="ECO:0000269|PubMed:12974739"
FT /id="VAR_029443"
FT VARIANT 927
FT /note="E -> K (in CMH1; dbSNP:rs397516170)"
FT /evidence="ECO:0000269|PubMed:15858117"
FT /id="VAR_042816"
FT VARIANT 927
FT /note="Missing (in CMH1)"
FT /evidence="ECO:0000269|PubMed:11968089"
FT /id="VAR_020818"
FT VARIANT 928
FT /note="D -> N (in CMH1; dbSNP:rs727503252)"
FT /evidence="ECO:0000269|PubMed:12974739,
FT ECO:0000269|PubMed:15856146"
FT /id="VAR_029444"
FT VARIANT 930
FT /note="E -> K (in CMH1; dbSNP:rs397516171)"
FT /evidence="ECO:0000269|PubMed:12975413,
FT ECO:0000269|PubMed:15563892"
FT /id="VAR_004595"
FT VARIANT 930
FT /note="Missing (in CMH1)"
FT /evidence="ECO:0000269|PubMed:12707239,
FT ECO:0000269|PubMed:9829907"
FT /id="VAR_004596"
FT VARIANT 931
FT /note="E -> K (in CMH1; dbSNP:rs1131691514)"
FT /evidence="ECO:0000269|PubMed:15358028"
FT /id="VAR_042817"
FT VARIANT 935
FT /note="E -> K (in CMH1; dbSNP:rs121913639)"
FT /id="VAR_004597"
FT VARIANT 949
FT /note="E -> K (in CMH1; dbSNP:rs121913629)"
FT /id="VAR_004598"
FT VARIANT 953
FT /note="D -> H (in CMH1; dbSNP:rs1391622163)"
FT /evidence="ECO:0000269|PubMed:15358028"
FT /id="VAR_042818"
FT VARIANT 1019
FT /note="T -> N (in CMD1S; dbSNP:rs755392435)"
FT /evidence="ECO:0000269|PubMed:15769782"
FT /id="VAR_042819"
FT VARIANT 1044
FT /note="V -> A (in CMD1S)"
FT /evidence="ECO:0000269|PubMed:21846512"
FT /id="VAR_067260"
FT VARIANT 1057
FT /note="G -> D (in CMH1; dbSNP:rs1298412196)"
FT /evidence="ECO:0000269|PubMed:16199542"
FT /id="VAR_042820"
FT VARIANT 1057
FT /note="G -> S (in CMH1; dbSNP:rs397516179)"
FT /evidence="ECO:0000269|PubMed:15358028"
FT /id="VAR_042821"
FT VARIANT 1101..1104
FT /note="Missing (in CMD1S)"
FT /evidence="ECO:0000269|PubMed:21846512"
FT /id="VAR_067261"
FT VARIANT 1124
FT /note="A -> S (in dbSNP:rs1041961)"
FT /evidence="ECO:0000269|PubMed:2249844"
FT /id="VAR_017753"
FT VARIANT 1135
FT /note="L -> R (in CMH1; dbSNP:rs1195446785)"
FT /evidence="ECO:0000269|PubMed:12707239"
FT /id="VAR_019865"
FT VARIANT 1193
FT /note="R -> S (in CMD1S; dbSNP:rs886039090)"
FT /evidence="ECO:0000269|PubMed:15769782"
FT /id="VAR_042822"
FT VARIANT 1218
FT /note="E -> Q (in CMH1; dbSNP:rs1170782159)"
FT /evidence="ECO:0000269|PubMed:12707239"
FT /id="VAR_019866"
FT VARIANT 1220
FT /note="Missing (in CMD1S; dbSNP:rs397516190)"
FT /evidence="ECO:0000269|PubMed:21127202"
FT /id="VAR_073882"
FT VARIANT 1263
FT /note="A -> E (in CMD1S; dbSNP:rs758889483)"
FT /evidence="ECO:0000269|PubMed:21846512"
FT /id="VAR_067262"
FT VARIANT 1297
FT /note="L -> V (in CMD1S)"
FT /evidence="ECO:0000269|PubMed:21846512"
FT /id="VAR_067263"
FT VARIANT 1327
FT /note="N -> K (in CMH1; dbSNP:rs141764279)"
FT /evidence="ECO:0000269|PubMed:15483641"
FT /id="VAR_042823"
FT VARIANT 1356
FT /note="E -> K (in CMH1; dbSNP:rs727503246)"
FT /evidence="ECO:0000269|PubMed:15358028,
FT ECO:0000269|PubMed:15856146"
FT /id="VAR_042824"
FT VARIANT 1359
FT /note="R -> C (in LVNC5; unknown pathological significance;
FT dbSNP:rs45451303)"
FT /evidence="ECO:0000269|PubMed:18506004"
FT /id="VAR_073883"
FT VARIANT 1377
FT /note="T -> M (in CMH1; dbSNP:rs397516201)"
FT /evidence="ECO:0000269|PubMed:12707239,
FT ECO:0000269|PubMed:15358028"
FT /id="VAR_019867"
FT VARIANT 1379
FT /note="A -> T (in CMH1; dbSNP:rs397516202)"
FT /evidence="ECO:0000269|PubMed:11861413,
FT ECO:0000269|PubMed:12707239"
FT /id="VAR_019868"
FT VARIANT 1382
FT /note="R -> W (in CMH1; dbSNP:rs730880910)"
FT /evidence="ECO:0000269|PubMed:12707239"
FT /id="VAR_019869"
FT VARIANT 1414
FT /note="L -> M (in CMH1; dbSNP:rs201895208)"
FT /evidence="ECO:0000269|PubMed:18403758"
FT /id="VAR_045928"
FT VARIANT 1420
FT /note="R -> W (in CMH1; dbSNP:rs145213771)"
FT /evidence="ECO:0000269|PubMed:15358028"
FT /id="VAR_042825"
FT VARIANT 1426
FT /note="E -> K (in CMD1S; dbSNP:rs397516208)"
FT /evidence="ECO:0000269|PubMed:15769782"
FT /id="VAR_042826"
FT VARIANT 1454
FT /note="A -> T (in CMH1; dbSNP:rs1358268382)"
FT /evidence="ECO:0000269|PubMed:15856146"
FT /id="VAR_042827"
FT VARIANT 1459
FT /note="K -> N (in CMH1 and CMD1S; dbSNP:rs201307101)"
FT /evidence="ECO:0000269|PubMed:15358028,
FT ECO:0000269|PubMed:21127202"
FT /id="VAR_042828"
FT VARIANT 1475
FT /note="R -> C (in dbSNP:rs139646545)"
FT /evidence="ECO:0000269|PubMed:15483641"
FT /id="VAR_042829"
FT VARIANT 1491
FT /note="S -> C (in dbSNP:rs3729823)"
FT /evidence="ECO:0000269|PubMed:11861413,
FT ECO:0000269|PubMed:15358028, ECO:0000269|PubMed:15483641,
FT ECO:0000269|PubMed:15769782"
FT /id="VAR_020819"
FT VARIANT 1500
FT /note="R -> P (in MPD1; dbSNP:rs121913647)"
FT /evidence="ECO:0000269|PubMed:15322983"
FT /id="VAR_022369"
FT VARIANT 1513
FT /note="T -> S (in CMH1; dbSNP:rs397516222)"
FT /evidence="ECO:0000269|PubMed:15358028"
FT /id="VAR_042830"
FT VARIANT 1519
FT /note="S -> C"
FT /evidence="ECO:0000269|PubMed:15858117"
FT /id="VAR_042831"
FT VARIANT 1555
FT /note="E -> K (in CMH1; dbSNP:rs727505176)"
FT /evidence="ECO:0000269|PubMed:11968089"
FT /id="VAR_020820"
FT VARIANT 1573
FT /note="E -> K (in CMD1S; unknown pathological significance;
FT dbSNP:rs750987717)"
FT /evidence="ECO:0000269|PubMed:21127202"
FT /id="VAR_073884"
FT VARIANT 1617
FT /note="Missing (in MPD1)"
FT /evidence="ECO:0000269|PubMed:15322983"
FT /id="VAR_042832"
FT VARIANT 1634
FT /note="R -> C (in CMD1S; unknown pathological significance;
FT dbSNP:rs397516232)"
FT /evidence="ECO:0000269|PubMed:15769782"
FT /id="VAR_042833"
FT VARIANT 1663
FT /note="A -> P (in MPD1; dbSNP:rs797044601)"
FT /evidence="ECO:0000269|PubMed:15322983"
FT /id="VAR_022370"
FT VARIANT 1692
FT /note="V -> M (in CMH1; unknown pathological significance)"
FT /evidence="ECO:0000269|PubMed:12707239"
FT /id="VAR_019870"
FT VARIANT 1706
FT /note="L -> P (in MPD1; dbSNP:rs797044602)"
FT /evidence="ECO:0000269|PubMed:15322983"
FT /id="VAR_022371"
FT VARIANT 1712
FT /note="R -> W (in CMH1; dbSNP:rs121913650)"
FT /evidence="ECO:0000269|PubMed:15483641"
FT /id="VAR_042834"
FT VARIANT 1729
FT /note="Missing (in MPD1)"
FT /evidence="ECO:0000269|PubMed:15322983"
FT /id="VAR_042835"
FT VARIANT 1752
FT /note="E -> K (in CMH1; associated with phenotype
FT variability; dbSNP:rs730880916)"
FT /evidence="ECO:0000269|PubMed:25182012"
FT /id="VAR_072816"
FT VARIANT 1753
FT /note="E -> K (in CMH1; dbSNP:rs545585809)"
FT /evidence="ECO:0000269|PubMed:15483641"
FT /id="VAR_042836"
FT VARIANT 1768
FT /note="E -> K (in CMH1; dbSNP:rs397516241)"
FT /evidence="ECO:0000269|PubMed:15358028"
FT /id="VAR_042837"
FT VARIANT 1776
FT /note="S -> G (in CMH1; dbSNP:rs369437262)"
FT /evidence="ECO:0000269|PubMed:11861413"
FT /id="VAR_020821"
FT VARIANT 1776
FT /note="S -> T (in LVNC5)"
FT /evidence="ECO:0000269|PubMed:18506004"
FT /id="VAR_073885"
FT VARIANT 1777
FT /note="A -> T (in CMH1; dbSNP:rs200939753)"
FT /evidence="ECO:0000269|PubMed:12707239"
FT /id="VAR_019871"
FT VARIANT 1793
FT /note="L -> P (in MSMA; dbSNP:rs121913654)"
FT /evidence="ECO:0000269|PubMed:16684601"
FT /id="VAR_073886"
FT VARIANT 1820
FT /note="R -> W (in MSMB; dbSNP:rs145734640)"
FT /evidence="ECO:0000269|PubMed:25666907"
FT /id="VAR_073887"
FT VARIANT 1845
FT /note="R -> W (in MSMA and SPMM; dbSNP:rs28933098)"
FT /evidence="ECO:0000269|PubMed:14520662,
FT ECO:0000269|PubMed:17336526"
FT /id="VAR_017754"
FT VARIANT 1854
FT /note="T -> M (in CMH1; dbSNP:rs372381770)"
FT /evidence="ECO:0000269|PubMed:15358028"
FT /id="VAR_042838"
FT VARIANT 1883
FT /note="E -> K (in CMH1; dbSNP:rs121913652)"
FT /evidence="ECO:0000269|PubMed:17372140"
FT /id="VAR_042839"
FT VARIANT 1901
FT /note="H -> L (in MSMA; dbSNP:rs121913649)"
FT /evidence="ECO:0000269|PubMed:15136674"
FT /id="VAR_042840"
FT VARIANT 1918
FT /note="N -> K (in CMD1S)"
FT /evidence="ECO:0000269|PubMed:21127202"
FT /id="VAR_073888"
FT VARIANT 1919
FT /note="K -> N (in dbSNP:rs1343372308)"
FT /evidence="ECO:0000269|PubMed:15358028"
FT /id="VAR_042841"
FT VARIANT 1929
FT /note="T -> M (in CMH1; unknown pathological significance;
FT dbSNP:rs730880918)"
FT /evidence="ECO:0000269|PubMed:15358028"
FT /id="VAR_042842"
FT CONFLICT 88
FT /note="E -> Q (in Ref. 8; AAA60384)"
FT /evidence="ECO:0000305"
FT CONFLICT 397
FT /note="K -> G (in Ref. 10)"
FT /evidence="ECO:0000305"
FT CONFLICT 672..674
FT /note="CII -> LYH (in Ref. 2; CAA37068)"
FT /evidence="ECO:0000305"
FT CONFLICT 858
FT /note="R -> A (in Ref. 2; CAA37068)"
FT /evidence="ECO:0000305"
FT CONFLICT 942..943
FT /note="KL -> NV (in Ref. 2; CAA37068)"
FT /evidence="ECO:0000305"
FT CONFLICT 1077
FT /note="D -> E (in Ref. 13; CAA35940)"
FT /evidence="ECO:0000305"
FT CONFLICT 1159
FT /note="V -> C (in Ref. 2; CAA37068 and 3; CAC20413)"
FT /evidence="ECO:0000305"
FT CONFLICT 1207
FT /note="I -> M (in Ref. 4; ACH92815)"
FT /evidence="ECO:0000305"
FT CONFLICT 1313
FT /note="E -> G (in Ref. 14; CAA27381)"
FT /evidence="ECO:0000305"
FT CONFLICT 1356
FT /note="E -> R (in Ref. 14; CAA27381)"
FT /evidence="ECO:0000305"
FT CONFLICT 1359..1360
FT /note="RV -> GD (in Ref. 14; CAA27381)"
FT /evidence="ECO:0000305"
FT CONFLICT 1575..1576
FT /note="KL -> NV (in Ref. 17; AAA36345)"
FT /evidence="ECO:0000305"
FT CONFLICT 1576..1577
FT /note="LA -> RQ (in Ref. 14; CAA27381)"
FT /evidence="ECO:0000305"
FT CONFLICT 1681
FT /note="Missing (in Ref. 2; CAA37068)"
FT /evidence="ECO:0000305"
FT CONFLICT 1703..1704
FT /note="EQ -> DE (in Ref. 13; CAA35940)"
FT /evidence="ECO:0000305"
FT CONFLICT 1703..1704
FT /note="EQ -> DR (in Ref. 2; CAA37068 and 16; AAA36343)"
FT /evidence="ECO:0000305"
FT CONFLICT 1866
FT /note="D -> A (in Ref. 18; CAA29119)"
FT /evidence="ECO:0000305"
FT HELIX 3..15
FT /evidence="ECO:0007829|PDB:4PA0"
FT HELIX 20..26
FT /evidence="ECO:0007829|PDB:4PA0"
FT TURN 33..35
FT /evidence="ECO:0007829|PDB:4PA0"
FT STRAND 36..41
FT /evidence="ECO:0007829|PDB:4PA0"
FT TURN 42..44
FT /evidence="ECO:0007829|PDB:4PA0"
FT STRAND 45..55
FT /evidence="ECO:0007829|PDB:4PA0"
FT STRAND 58..63
FT /evidence="ECO:0007829|PDB:4PA0"
FT TURN 64..66
FT /evidence="ECO:0007829|PDB:4DB1"
FT STRAND 68..72
FT /evidence="ECO:0007829|PDB:4PA0"
FT HELIX 73..75
FT /evidence="ECO:0007829|PDB:4PA0"
FT HELIX 82..84
FT /evidence="ECO:0007829|PDB:4PA0"
FT HELIX 90..92
FT /evidence="ECO:0007829|PDB:4PA0"
FT HELIX 98..110
FT /evidence="ECO:0007829|PDB:4PA0"
FT STRAND 115..118
FT /evidence="ECO:0007829|PDB:4PA0"
FT STRAND 121..125
FT /evidence="ECO:0007829|PDB:4PA0"
FT HELIX 136..142
FT /evidence="ECO:0007829|PDB:4PA0"
FT HELIX 147..149
FT /evidence="ECO:0007829|PDB:4PA0"
FT HELIX 154..168
FT /evidence="ECO:0007829|PDB:4PA0"
FT STRAND 172..179
FT /evidence="ECO:0007829|PDB:4PA0"
FT HELIX 184..198
FT /evidence="ECO:0007829|PDB:4PA0"
FT HELIX 216..231
FT /evidence="ECO:0007829|PDB:4PA0"
FT STRAND 244..252
FT /evidence="ECO:0007829|PDB:4PA0"
FT STRAND 256..266
FT /evidence="ECO:0007829|PDB:4PA0"
FT HELIX 270..273
FT /evidence="ECO:0007829|PDB:4PA0"
FT HELIX 284..289
FT /evidence="ECO:0007829|PDB:4PA0"
FT HELIX 296..300
FT /evidence="ECO:0007829|PDB:4PA0"
FT HELIX 307..309
FT /evidence="ECO:0007829|PDB:4PA0"
FT HELIX 311..313
FT /evidence="ECO:0007829|PDB:4PA0"
FT HELIX 325..338
FT /evidence="ECO:0007829|PDB:4PA0"
FT HELIX 343..359
FT /evidence="ECO:0007829|PDB:4PA0"
FT STRAND 364..366
FT /evidence="ECO:0007829|PDB:4PA0"
FT STRAND 368..371
FT /evidence="ECO:0007829|PDB:4PA0"
FT STRAND 373..376
FT /evidence="ECO:0007829|PDB:4PA0"
FT HELIX 379..387
FT /evidence="ECO:0007829|PDB:4PA0"
FT HELIX 392..400
FT /evidence="ECO:0007829|PDB:4PA0"
FT HELIX 417..447
FT /evidence="ECO:0007829|PDB:4PA0"
FT STRAND 455..463
FT /evidence="ECO:0007829|PDB:4PA0"
FT STRAND 469..471
FT /evidence="ECO:0007829|PDB:4PA0"
FT HELIX 473..503
FT /evidence="ECO:0007829|PDB:4PA0"
FT HELIX 513..517
FT /evidence="ECO:0007829|PDB:4PA0"
FT HELIX 518..525
FT /evidence="ECO:0007829|PDB:4PA0"
FT HELIX 530..537
FT /evidence="ECO:0007829|PDB:4PA0"
FT HELIX 545..556
FT /evidence="ECO:0007829|PDB:4PA0"
FT TURN 557..559
FT /evidence="ECO:0007829|PDB:4PA0"
FT STRAND 570..572
FT /evidence="ECO:0007829|PDB:4DB1"
FT STRAND 577..581
FT /evidence="ECO:0007829|PDB:4PA0"
FT STRAND 584..588
FT /evidence="ECO:0007829|PDB:4PA0"
FT HELIX 593..598
FT /evidence="ECO:0007829|PDB:4PA0"
FT HELIX 603..610
FT /evidence="ECO:0007829|PDB:4PA0"
FT HELIX 615..620
FT /evidence="ECO:0007829|PDB:4PA0"
FT HELIX 647..663
FT /evidence="ECO:0007829|PDB:4PA0"
FT STRAND 665..673
FT /evidence="ECO:0007829|PDB:4PA0"
FT HELIX 686..695
FT /evidence="ECO:0007829|PDB:4PA0"
FT HELIX 698..706
FT /evidence="ECO:0007829|PDB:4PA0"
FT STRAND 711..714
FT /evidence="ECO:0007829|PDB:4PA0"
FT HELIX 715..722
FT /evidence="ECO:0007829|PDB:4PA0"
FT HELIX 723..725
FT /evidence="ECO:0007829|PDB:4PA0"
FT HELIX 727..729
FT /evidence="ECO:0007829|PDB:4PA0"
FT STRAND 733..735
FT /evidence="ECO:0007829|PDB:4PA0"
FT HELIX 738..747
FT /evidence="ECO:0007829|PDB:4PA0"
FT STRAND 749..751
FT /evidence="ECO:0007829|PDB:4PA0"
FT STRAND 755..758
FT /evidence="ECO:0007829|PDB:4PA0"
FT STRAND 760..765
FT /evidence="ECO:0007829|PDB:4PA0"
FT HELIX 767..787
FT /evidence="ECO:0007829|PDB:4PA0"
FT HELIX 838..958
FT /evidence="ECO:0007829|PDB:2FXO"
FT TURN 959..961
FT /evidence="ECO:0007829|PDB:2FXO"
FT HELIX 1217..1276
FT /evidence="ECO:0007829|PDB:6PF2"
FT HELIX 1361..1425
FT /evidence="ECO:0007829|PDB:4XA3"
FT HELIX 1527..1570
FT /evidence="ECO:0007829|PDB:5CJ1"
FT TURN 1571..1574
FT /evidence="ECO:0007829|PDB:5CJ4"
FT HELIX 1581..1586
FT /evidence="ECO:0007829|PDB:5CJ4"
FT HELIX 1590..1614
FT /evidence="ECO:0007829|PDB:5CHX"
FT HELIX 1619..1640
FT /evidence="ECO:0007829|PDB:5CHX"
FT HELIX 1646..1650
FT /evidence="ECO:0007829|PDB:5CHX"
FT HELIX 1654..1656
FT /evidence="ECO:0007829|PDB:5CHX"
FT HELIX 1677..1727
FT /evidence="ECO:0007829|PDB:5WLQ"
FT HELIX 1730..1768
FT /evidence="ECO:0007829|PDB:5WME"
FT HELIX 1777..1782
FT /evidence="ECO:0007829|PDB:4XA6"
FT HELIX 1786..1790
FT /evidence="ECO:0007829|PDB:4XA6"
FT HELIX 1793..1805
FT /evidence="ECO:0007829|PDB:4XA6"
FT HELIX 1816..1830
FT /evidence="ECO:0007829|PDB:4XA6"
FT TURN 1833..1837
FT /evidence="ECO:0007829|PDB:4XA6"
FT TURN 1844..1847
FT /evidence="ECO:0007829|PDB:4XA6"
FT HELIX 1850..1855
FT /evidence="ECO:0007829|PDB:4XA6"
SQ SEQUENCE 1935 AA; 223097 MW; C58B22F914215718 CRC64;
MGDSEMAVFG AAAPYLRKSE KERLEAQTRP FDLKKDVFVP DDKQEFVKAK IVSREGGKVT
AETEYGKTVT VKEDQVMQQN PPKFDKIEDM AMLTFLHEPA VLYNLKDRYG SWMIYTYSGL
FCVTVNPYKW LPVYTPEVVA AYRGKKRSEA PPHIFSISDN AYQYMLTDRE NQSILITGES
GAGKTVNTKR VIQYFAVIAA IGDRSKKDQS PGKGTLEDQI IQANPALEAF GNAKTVRNDN
SSRFGKFIRI HFGATGKLAS ADIETYLLEK SRVIFQLKAE RDYHIFYQIL SNKKPELLDM
LLITNNPYDY AFISQGETTV ASIDDAEELM ATDNAFDVLG FTSEEKNSMY KLTGAIMHFG
NMKFKLKQRE EQAEPDGTEE ADKSAYLMGL NSADLLKGLC HPRVKVGNEY VTKGQNVQQV
IYATGALAKA VYERMFNWMV TRINATLETK QPRQYFIGVL DIAGFEIFDF NSFEQLCINF
TNEKLQQFFN HHMFVLEQEE YKKEGIEWTF IDFGMDLQAC IDLIEKPMGI MSILEEECMF
PKATDMTFKA KLFDNHLGKS ANFQKPRNIK GKPEAHFSLI HYAGIVDYNI IGWLQKNKDP
LNETVVGLYQ KSSLKLLSTL FANYAGADAP IEKGKGKAKK GSSFQTVSAL HRENLNKLMT
NLRSTHPHFV RCIIPNETKS PGVMDNPLVM HQLRCNGVLE GIRICRKGFP NRILYGDFRQ
RYRILNPAAI PEGQFIDSRK GAEKLLSSLD IDHNQYKFGH TKVFFKAGLL GLLEEMRDER
LSRIITRIQA QSRGVLARME YKKLLERRDS LLVIQWNIRA FMGVKNWPWM KLYFKIKPLL
KSAEREKEMA SMKEEFTRLK EALEKSEARR KELEEKMVSL LQEKNDLQLQ VQAEQDNLAD
AEERCDQLIK NKIQLEAKVK EMNERLEDEE EMNAELTAKK RKLEDECSEL KRDIDDLELT
LAKVEKEKHA TENKVKNLTE EMAGLDEIIA KLTKEKKALQ EAHQQALDDL QAEEDKVNTL
TKAKVKLEQQ VDDLEGSLEQ EKKVRMDLER AKRKLEGDLK LTQESIMDLE NDKQQLDERL
KKKDFELNAL NARIEDEQAL GSQLQKKLKE LQARIEELEE ELEAERTARA KVEKLRSDLS
RELEEISERL EEAGGATSVQ IEMNKKREAE FQKMRRDLEE ATLQHEATAA ALRKKHADSV
AELGEQIDNL QRVKQKLEKE KSEFKLELDD VTSNMEQIIK AKANLEKMCR TLEDQMNEHR
SKAEETQRSV NDLTSQRAKL QTENGELSRQ LDEKEALISQ LTRGKLTYTQ QLEDLKRQLE
EEVKAKNALA HALQSARHDC DLLREQYEEE TEAKAELQRV LSKANSEVAQ WRTKYETDAI
QRTEELEEAK KKLAQRLQEA EEAVEAVNAK CSSLEKTKHR LQNEIEDLMV DVERSNAAAA
ALDKKQRNFD KILAEWKQKY EESQSELESS QKEARSLSTE LFKLKNAYEE SLEHLETFKR
ENKNLQEEIS DLTEQLGSSG KTIHELEKVR KQLEAEKMEL QSALEEAEAS LEHEEGKILR
AQLEFNQIKA EIERKLAEKD EEMEQAKRNH LRVVDSLQTS LDAETRSRNE ALRVKKKMEG
DLNEMEIQLS HANRMAAEAQ KQVKSLQSLL KDTQIQLDDA VRANDDLKEN IAIVERRNNL
LQAELEELRA VVEQTERSRK LAEQELIETS ERVQLLHSQN TSLINQKKKM DADLSQLQTE
VEEAVQECRN AEEKAKKAIT DAAMMAEELK KEQDTSAHLE RMKKNMEQTI KDLQHRLDEA
EQIALKGGKK QLQKLEARVR ELENELEAEQ KRNAESVKGM RKSERRIKEL TYQTEEDRKN
LLRLQDLVDK LQLKVKAYKR QAEEAEEQAN TNLSKFRKVQ HELDEAEERA DIAESQVNKL
RAKSRDIGTK GLNEE
