[1]	NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA], AND VARIANT SER-1124. DOI=10.1016/0888-7543(90)90272-V; PubMed=2249844 [NCBI, ExPASy, EBI, Israel, Japan] Jaenicke T., Diederich K.W., Haas W., Schleich J., Lichter P., Pfordt M., Bach A., Vosberg H.P.; "The complete sequence of the human beta-myosin heavy chain gene and a comparative analysis of its product."; Genomics 8:194-206(1990).
[2]	NUCLEOTIDE SEQUENCE [GENOMIC DNA], AND VARIANT GLU-107. DOI=10.1093/nar/18.12.3647; PubMed=2362820 [NCBI, ExPASy, EBI, Israel, Japan] Liew C.-C., Sole M.J., Yamauchi-Takihara K., Kellam B., Anderson D.H., Lin L., Liew J.; "Complete sequence and organization of the human cardiac beta-myosin heavy chain gene."; Nucleic Acids Res. 18:3647-3651(1990).
[3]	NUCLEOTIDE SEQUENCE [GENOMIC DNA]. DOI=10.1002/1097-4644(20001215)79:4<566::AID-JCB50>3.3.CO;2-5; PubMed=10996847 [NCBI, ExPASy, EBI, Israel, Japan] Wendel B., Reinhard R., Wachtendorf U., Zacharzowsky U.B., Osterziel K.J., Schulte H.D., Haase H., Hoehe M.R., Morano I.; "The human beta-myosin heavy chain gene: sequence diversity and functional characteristics of the protein."; J. Cell. Biochem. 79:566-575(2000).
[4]	NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. DOI=10.1101/gr.2596504; PubMed=15489334 [NCBI, ExPASy, EBI, Israel, Japan] The MGC Project Team; "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."; Genome Res. 14:2121-2127(2004).
[5]	NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-176, AND VARIANT GLU-107. DOI=10.1073/pnas.86.10.3504; PubMed=2726733 [NCBI, ExPASy, EBI, Israel, Japan] Yamauchi-Takihara K., Sole M.J., Liew J., Ing D., Liew C.-C.; "Characterization of human cardiac myosin heavy chain genes."; Proc. Natl. Acad. Sci. U.S.A. 86:3504-3508(1989).
[6]	ERRATUM. Yamauchi-Takihara K., Sole M.J., Liew J., Ing D., Liew C.-C.; Proc. Natl. Acad. Sci. U.S.A. 86:7416-7417(1989).
[7]	NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 653-720. DOI=10.1007/BF00278991; PubMed=2522082 [NCBI, ExPASy, EBI, Israel, Japan] Diederich K.W., Eisele I., Ried T., Jaenicke T., Lichter P., Vosberg H.P.; "Isolation and characterization of the complete human beta-myosin heavy chain gene."; Hum. Genet. 81:214-220(1989).
[8]	NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 684-721; 975-1111 AND 1853-1935. DOI=10.1111/j.1432-1033.1986.tb09989.x; PubMed=3021460 [NCBI, ExPASy, EBI, Israel, Japan] Lichter P., Umeda P.K., Levin J.E., Vosberg H.P.; "Partial characterization of the human beta-myosin heavy-chain gene which is expressed in heart and skeletal muscle."; Eur. J. Biochem. 160:419-426(1986).
[9]	NUCLEOTIDE SEQUENCE [MRNA] OF 785-1935. TISSUE=Skeletal muscle; DOI=10.1111/j.1432-1033.1990.tb15459.x; PubMed=1691980 [NCBI, ExPASy, EBI, Israel, Japan] Bober E., Buchberger-Seidl A., Braun T., Singh S., Goedde H.W., Arnold H.H.; "Identification of three developmentally controlled isoforms of human myosin heavy chains."; Eur. J. Biochem. 189:55-65(1990).
[10]	NUCLEOTIDE SEQUENCE [MRNA] OF 1310-1935. DOI=10.1093/nar/14.7.2951; PubMed=2421254 [NCBI, ExPASy, EBI, Israel, Japan] Saez L., Leinwand L.A.; "Characterization of diverse forms of myosin heavy chain expressed in adult human skeletal muscle."; Nucleic Acids Res. 14:2951-2969(1986).
[11]	SEQUENCE REVISION. Leinwand L.A.; Submitted (MAR-1988) to the EMBL/GenBank/DDBJ databases.
[12]	NUCLEOTIDE SEQUENCE [MRNA] OF 1393-1935. DOI=10.1007/BF00283049; PubMed=3032769 [NCBI, ExPASy, EBI, Israel, Japan] Jandreski M.A., Liew C.-C.; "Construction of a human ventricular cDNA library and characterization of a beta myosin heavy chain cDNA clone."; Hum. Genet. 76:47-53(1987).
[13]	NUCLEOTIDE SEQUENCE [MRNA] OF 1412-1935. PubMed=2969919 [NCBI, ExPASy, EBI, Israel, Japan] Kurabayashi M., Tsuchimochi H., Komuro I., Takaku F., Yazaki Y.; "Molecular cloning and characterization of human cardiac alpha- and beta-form myosin heavy chain complementary DNA clones. Regulation of expression during development and pressure overload in human atrium."; J. Clin. Invest. 82:524-531(1988).
[14]	NUCLEOTIDE SEQUENCE [MRNA] OF 1854-1935. DOI=10.1093/nar/15.13.5443; PubMed=3037493 [NCBI, ExPASy, EBI, Israel, Japan] Saez L.J., Gianola K.M., McNally E.M., Feghali R., Eddy R., Shows T.B., Leinwand L.A.; "Human cardiac myosin heavy chain genes and their linkage in the genome."; Nucleic Acids Res. 15:5443-5459(1987).
[15]	REVIEW ON VARIANTS. DOI=10.1002/ajmg.1320580314; PubMed=8533830 [NCBI, ExPASy, EBI, Israel, Japan] Arai S., Matsuoka R., Hirayama K., Sukurai H., Tamura M., Ozawa T., Kimura M., Imamura S., Furutani Y., Joh-o K., Kawana M., Takao A., Hosoda S., Momma K.; "Missense mutation of the beta-cardiac myosin heavy-chain gene in hypertrophic cardiomyopathy."; Am. J. Med. Genet. 58:267-276(1995).
[16]	PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-1037, AND MASS SPECTROMETRY. DOI=10.1073/pnas.0611217104; PubMed=17287340 [NCBI, ExPASy, EBI, Israel, Japan] Molina H., Horn D.M., Tang N., Mathivanan S., Pandey A.; "Global proteomic profiling of phosphopeptides using electron transfer dissociation tandem mass spectrometry."; Proc. Natl. Acad. Sci. U.S.A. 104:2199-2204(2007).
[17]	VARIANTS CMH1 GLU-256 AND ARG-741. DOI=10.1073/pnas.90.9.3993; PubMed=8483915 [NCBI, ExPASy, EBI, Israel, Japan] Fananapazir L., Dalakas M.C., Cyran F., Cohn G., Epstein N.D.; "Missense mutations in the beta-myosin heavy-chain gene cause central core disease in hypertrophic cardiomyopathy."; Proc. Natl. Acad. Sci. U.S.A. 90:3993-3997(1993).
[18]	VARIANT CMH1 GLN-403. DOI=10.1016/0092-8674(90)90274-I; PubMed=1975517 [NCBI, ExPASy, EBI, Israel, Japan] Geisterfer-Lowrance A.A.T., Kass S., Tanigawa G., Vosberg H.-P., McKenna W., Seidman C.E., Seidman J.G.; "A molecular basis for familial hypertrophic cardiomyopathy: a beta cardiac myosin heavy chain gene missense mutation."; Cell 62:999-1006(1990).
[19]	VARIANTS CMH1 GLN-249; GLN-403; CYS-453 AND MET-606. PubMed=1552912 [NCBI, ExPASy, EBI, Israel, Japan] Watkins H., Rosenzweig A., Hwang D.S., Levi T., McKenna W., Seidmann C.E., Seidmann J.G.; "Characteristics and prognostic implications of myosin missense mutations in familial hypertrophic cardiomyopathy."; N. Engl. J. Med. 326:1108-1114(1992).
[20]	VARIANTS CMH1 GLN-403; CYS-453; ARG-584 AND MET-606. PubMed=8250038 [NCBI, ExPASy, EBI, Israel, Japan] Watkins H., Thierfelder L., Anan R., Jarcho J., Matsumori A., McKenna W., Seidman J.G., Seidman C.E.; "Independent origin of identical beta cardiac myosin heavy-chain mutations in hypertrophic cardiomyopathy."; Am. J. Hum. Genet. 53:1180-1185(1993).
[21]	VARIANTS CMH1 GLN-403 AND VAL-908. PubMed=1638703 [NCBI, ExPASy, EBI, Israel, Japan] Epstein N.D., Cohn G.M., Cyran F., Fananapazir L.; "Differences in clinical expression of hypertrophic cardiomyopathy associated with two distinct mutations in the beta-myosin heavy chain gene. A 908Leu-->Val mutation and a 403Arg-->Gln mutation."; Circulation 86:345-352(1992).
[22]	VARIANTS CMH1 LEU-403 AND TRP-403. PubMed=8254035 [NCBI, ExPASy, EBI, Israel, Japan] Dausse E., Komajda M., Fetler L., Dubourg O., Dufour C., Carrier L., Wisnewsky C., Bercovici J., Hengstenberg C., Al-Mahdawi S.; "Familial hypertrophic cardiomyopathy. Microsatellite haplotyping and identification of a hot spot for mutations in the beta-myosin heavy chain gene."; J. Clin. Invest. 92:2807-2813(1993).
[23]	VARIANT CMH1 TRP-403. DOI=10.1093/hmg/2.10.1731; PubMed=8268932 [NCBI, ExPASy, EBI, Israel, Japan] Moolman J.C., Brink P.A., Corfield V.A.; "Identification of a new missense mutation at Arg403, a CpG mutation hotspot, in exon 13 of the beta-myosin heavy chain gene in hypertrophic cardiomyopathy."; Hum. Mol. Genet. 2:1731-1732(1993).
[24]	VARIANT CMH1 ASN-615. DOI=10.1016/0006-291X(92)92396-F; PubMed=1417858 [NCBI, ExPASy, EBI, Israel, Japan] Nishi H., Kimura A., Harada H., Toshima H., Sasazuki T.; "Novel missense mutation in cardiac beta myosin heavy chain gene found in a Japanese patient with hypertrophic cardiomyopathy."; Biochem. Biophys. Res. Commun. 188:379-387(1992).
[25]	VARIANT CMH1 GLY-778. DOI=10.1006/bbrc.1993.1891; PubMed=8343162 [NCBI, ExPASy, EBI, Israel, Japan] Harada H., Kimura A., Nishi H., Sasazuki T., Toshima H.; "A missense mutation of cardiac beta-myosin heavy chain gene linked to familial hypertrophic cardiomyopathy in affected Japanese families."; Biochem. Biophys. Res. Commun. 194:791-798(1993).
[26]	VARIANT CMH1 VAL-908. PubMed=8435239 [NCBI, ExPASy, EBI, Israel, Japan] Al-Mahdawi S., Chamberlain S., Cleland J., Nihoyannopoulos P., Gilligan D., French J., Choudhury L., Williamson R., Oakley C.; "Identification of a mutation in the beta cardiac myosin heavy chain gene in a family with hypertrophic cardiomyopathy."; Br. Heart J. 69:136-141(1993).
[27]	VARIANT CMH1 TRP-719. PubMed=7874131 [NCBI, ExPASy, EBI, Israel, Japan] Greve G., Bachinski L., Friedman D.L., Czernuzewicz G., Anan R., Towbin J.A., Seidman C.E., Roberts R.; "Isolation of a de novo mutant myocardial beta MHC protein in a pedigree with hypertrophic cardiomyopathy."; Hum. Mol. Genet. 3:2073-2075(1994).
[28]	VARIANTS CMH1 CYS-513; ARG-716 AND TRP-719. PubMed=8282798 [NCBI, ExPASy, EBI, Israel, Japan] Anan R., Greve G., Thierfelder L., Watkins H., McKenna W., Solomon S., Vecchio C., Shono H., Nakao S., Tanaka H., Mares A. Jr., Towbin J.A., Spirito P., Roberts R., Seidman J.G., Seidman C.E.; "Prognostic implications of novel beta cardiac myosin heavy chain gene mutations that cause familial hypertrophic cardiomyopathy."; J. Clin. Invest. 93:280-285(1994).
[29]	VARIANT CMH1 THR-797. DOI=10.1002/humu.1380060219; PubMed=7581410 [NCBI, ExPASy, EBI, Israel, Japan] Moolman J.C., Brink P.A., Corfield V.A.; "Identification of a novel Ala797Thr mutation in exon 21 of the beta-myosin heavy chain gene in hypertrophic cardiomyopathy."; Hum. Mutat. 6:197-198(1995).
[30]	VARIANTS CMH1 ILE-124; CYS-162; LYS-187; LYS-222; LEU-244; HIS-663; ASN-782 AND HIS-870. DOI=10.1073/pnas.92.9.3864; PubMed=7731997 [NCBI, ExPASy, EBI, Israel, Japan] Rayment I., Holden H.M., Sellers J.R., Fananapazir L., Epstein N.D.; "Structural interpretation of the mutations in the beta-cardiac myosin that have been implicated in familial hypertrophic cardiomyopathy."; Proc. Natl. Acad. Sci. U.S.A. 92:3864-3868(1995).
[31]	VARIANT CMH1 CYS-453. DOI=10.1007/s004390050099; PubMed=8655135 [NCBI, ExPASy, EBI, Israel, Japan] Ko Y.-L., Chen J.-J., Tang T.-K., Cheng J.-J., Lin S.-Y., Liou Y.-C., Kuan P., Wu C.-W., Lien W.-P., Liew C.-C.; "Malignant familial hypertrophic cardiomyopathy in a family with a 453Arg-->Cys mutation in the beta-myosin heavy chain gene: coexistence of sudden death and end-stage heart failure."; Hum. Genet. 97:585-590(1996).
[32]	VARIANTS CMH1 SER-696 AND TRP-719. DOI=10.1016/S0735-1097(98)00448-3; PubMed=9822100 [NCBI, ExPASy, EBI, Israel, Japan] Jaeaeskelaeinen P., Soranta M., Miettinen R., Saarinen L., Pihlajamaeki J., Silvennoinen K., Tikanoja T., Laakso M., Kuusisto J.; "The cardiac beta-myosin heavy chain gene is not the predominant gene for hypertrophic cardiomyopathy in the Finnish population."; J. Am. Coll. Cardiol. 32:1709-1716(1998).
[33]	VARIANTS CMH1 THR-349 AND TRP-719. DOI=10.1007/s004390050695; PubMed=9544842 [NCBI, ExPASy, EBI, Israel, Japan] Jeschke B., Uhl K., Weist B., Schroder D., Meitinger T., Dohlemann C., Vosberg H.-P.; "A high risk phenotype of hypertrophic cardiomyopathy associated with a compound genotype of two mutated beta-myosin heavy chain genes."; Hum. Genet. 102:299-304(1998).
[34]	VARIANTS CMH1 THR-263; TRP-719; CYS-723 AND GLU-930 DEL. DOI=10.1002/(SICI)1098-1004(1998)12:6<385::AID-HUMU4>3.0.CO;2-E; PubMed=9829907 [NCBI, ExPASy, EBI, Israel, Japan] Tesson F., Richard P., Charron P., Mathieu B., Cruaud C., Carrier L., Dubourg O., Lautie N., Desnos M., Millaire A., Isnard R., Hagege A.A., Bouhour J.-B., Bennaceur M., Hainque B., Guicheney P., Schwartz K., Komajda M.; "Genotype-phenotype analysis in four families with mutations in beta-myosin heavy chain gene responsible for familial hypertrophic cardiomyopathy."; Hum. Mutat. 12:385-392(1998).
[35]	VARIANT CMH1 GLN-719. DOI=10.1093/hmg/3.6.1025; PubMed=7848441 [NCBI, ExPASy, EBI, Israel, Japan] Consevage M.W., Salada G.C., Baylen B.G., Ladda R.L., Rogan P.K.; "A new missense mutation, Arg719Gln, in the beta-cardiac heavy chain myosin gene of patients with familial hypertrophic cardiomyopathy."; Hum. Mol. Genet. 3:1025-1026(1994).
[36]	VARIANT CMH1 ASN-383. DOI=10.1006/jmcc.1996.0180; PubMed=8899546 [NCBI, ExPASy, EBI, Israel, Japan] Kuang S.-Q., Yu J.-D., Lu L., He L.-M., Gong L.-S., Chen S.-J., Chen Z.; "Identification of a novel missense mutation in the cardiac beta-myosin heavy chain gene in a Chinese patient with sporadic hypertrophic cardiomyopathy."; J. Mol. Cell. Cardiol. 28:1879-1883(1996).
[37]	VARIANTS CMH1 GLN-249 AND GLU-450. PubMed=10065021 [NCBI, ExPASy, EBI, Israel, Japan] Arbustini E., Fasani R., Morbini P., Diegoli M., Grasso M., Dal Bello B., Marangoni E., Banfi P., Banchieri N., Bellini O., Comi G., Narula J., Campana C., Gavazzi A., Danesino C., Vigano M.; "Coexistence of mitochondrial DNA and beta myosin heavy chain mutations in hypertrophic cardiomyopathy with late congestive heart failure."; Heart 80:548-558(1998).
[38]	ERRATUM. Arbustini E., Fasani R., Morbini P., Diegoli M., Grasso M., Dal Bello B., Marangoni E., Banfi P., Banchieri N., Bellini O., Comi G., Narula J., Campana C., Gavazzi A., Danesino C., Vigano M.; Heart 81:330-330(1999).
[39]	VARIANTS CMH1 TRP-403; LYS-499; GLN-719 AND THR-797. DOI=10.1086/302623; PubMed=10521296 [NCBI, ExPASy, EBI, Israel, Japan] Moolman-Smook J.C., De Lange W.J., Bruwer E.C.D., Brink P.A., Corfield V.A.; "The origins of hypertrophic cardiomyopathy-causing mutations in two South African subpopulations: a unique profile of both independent and founder events."; Am. J. Hum. Genet. 65:1308-1320(1999).
[40]	VARIANT CMH1 CYS-694. DOI=10.1034/j.1399-0004.1999.560313.x; PubMed=10563488 [NCBI, ExPASy, EBI, Israel, Japan] Andersen P.S., Havndrup O., Bundgaard H., Larsen L.A., Vuust J., Kjeldsen K., Christiansen M.; "Adult-onset familial hypertrophic cardiomyopathy caused by a novel mutation, R694C, in the MYH7 gene."; Clin. Genet. 56:244-246(1999).
[41]	VARIANT CMH1 THR-190. DOI=10.1006/jmcc.1998.0911; PubMed=10329202 [NCBI, ExPASy, EBI, Israel, Japan] Bundgaard H., Havndrup O., Andersen P.S., Larsen L.A., Brandt N.J., Vuust J., Kjeldsen K., Christiansen M.; "Familial hypertrophic cardiomyopathy associated with a novel missense mutation affecting the ATP-binding region of the cardiac beta-myosin heavy chain."; J. Mol. Cell. Cardiol. 31:745-750(1999).
[42]	VARIANT CMH1 LEU-712. DOI=10.1002/(SICI)1098-1004(200003)15:3<298::AID-HUMU22>3.0.CO;2-7; PubMed=10679957 [NCBI, ExPASy, EBI, Israel, Japan] Sakthivel S., Joseph P.K., Tharakan J.M., Vosberg H.-P., Rajamanickam C.; "A novel missense mutation (R712L) adjacent to the 'active thiol' region of the cardiac beta-myosin heavy chain gene causing hypertrophic cardiomyopathy in an Indian family."; Hum. Mutat. 15:298-299(2000).
[43]	VARIANTS CMH1 CYS-869 AND CYS-870. DOI=10.1002/1098-1004(200006)15:6<584::AID-HUMU25>3.0.CO;2-R; PubMed=10862102 [NCBI, ExPASy, EBI, Israel, Japan] Anan R., Shono H., Tei C.; "Novel cardiac beta-myosin heavy chain gene missense mutations (R869C and R870C) that cause familial hypertrophic cardiomyopathy."; Hum. Mutat. 15:584-584(2000).
[44]	VARIANT CMH1 GLY-723. DOI=10.1006/jmcc.2000.1260; PubMed=11113006 [NCBI, ExPASy, EBI, Israel, Japan] Enjuto M., Francino A., Navarro-Lopez F., Viles D., Pare J.-C., Ballesta A.M.; "Malignant hypertrophic cardiomyopathy caused by the Arg723Gly mutation in beta-myosin heavy chain gene."; J. Mol. Cell. Cardiol. 32:2307-2313(2000).
[45]	VARIANTS CMD1S PRO-532 AND LEU-764. DOI=10.1056/NEJM200012073432304; PubMed=11106718 [NCBI, ExPASy, EBI, Israel, Japan] Kamisago M., Sharma S.D., DePalma S.R., Solomon S., Sharma P., McDonough B., Smoot L., Mullen M.P., Woolf P.K., Wigle E.D., Seidman J.G., Seidman C.E.; "Mutations in sarcomere protein genes as a cause of dilated cardiomyopathy."; N. Engl. J. Med. 343:1688-1696(2000).
[46]	VARIANT CMH1 VAL-390. DOI=10.1080/140174300750064477; PubMed=11214007 [NCBI, ExPASy, EBI, Israel, Japan] Havndrup O., Bundgaard H., Andersen P.S., Larsen L.A., Vuust J., Kjeldsen K., Christiansen M.; "A novel missense mutation, Leu390Val, in the cardiac beta-myosin heavy chain associated with pronounced septal hypertrophy in two families with hypertrophic cardiomyopathy."; Scand. Cardiovasc. J. 34:558-563(2000).
[47]	VARIANT CMH1 ASP-743. DOI=10.1016/S0092-8674(01)00586-4; PubMed=11733062 [NCBI, ExPASy, EBI, Israel, Japan] Davis J.S., Hassanzadeh S., Winitsky S., Lin H., Satorius C., Vemuri R., Aletras A.H., Wen H., Epstein N.D.; "The overall pattern of cardiac contraction depends on a spatial gradient of myosin regulatory light chain phosphorylation."; Cell 107:631-641(2001).
[48]	VARIANT CMH1 VAL-728. DOI=10.1136/jmg.38.6.385; PubMed=11424919 [NCBI, ExPASy, EBI, Israel, Japan] Blair E., Price S.J., Baty C.J., Oestman-Smith I., Watkins H.; "Mutations in cis can confound genotype-phenotype correlations in hypertrophic cardiomyopathy."; J. Med. Genet. 38:385-388(2001).
[49]	VARIANTS CMH1 GLN-249; MET-406; CYS-453; MET-606; HIS-663 AND LYS-877. DOI=10.1006/jmcc.2000.1287; PubMed=11133230 [NCBI, ExPASy, EBI, Israel, Japan] Greber-Platzer S., Marx M., Fleischmann C., Suppan C., Dobner M., Wimmer M.; "Beta-myosin heavy chain gene mutations and hypertrophic cardiomyopathy in Austrian children."; J. Mol. Cell. Cardiol. 33:141-148(2001).
[50]	VARIANTS CMD1S THR-223 AND LEU-642. DOI=10.1016/S0006-291X(02)02374-4; PubMed=12379228 [NCBI, ExPASy, EBI, Israel, Japan] Daehmlow S., Erdmann J., Knueppel T., Gille C., Froemmel C., Hummel M., Hetzer R., Regitz-Zagrosek V.; "Novel mutations in sarcomeric protein genes in dilated cardiomyopathy."; Biochem. Biophys. Res. Commun. 298:116-120(2002).
[51]	VARIANTS CMH1 HIS-663; TRP-719; ARG-768 AND GLY-906. DOI=10.1161/01.CIR.0000019070.70491.6D; PubMed=12081993 [NCBI, ExPASy, EBI, Israel, Japan] Ho C.Y., Sweitzer N.K., McDonough B., Maron B.J., Casey S.A., Seidman J.G., Seidman C.E., Solomon S.D.; "Assessment of diastolic function with Doppler tissue imaging to predict genotype in preclinical hypertrophic cardiomyopathy."; Circulation 105:2992-2997(2002).
[52]	VARIANTS CMH1 THR-1379 AND GLY-1776, AND VARIANT CYS-1491. DOI=10.1161/hh0302.104532; PubMed=11861413 [NCBI, ExPASy, EBI, Israel, Japan] Blair E., Redwood C., de Jesus Oliveira M., Moolman-Smook J.C., Brink P., Corfield V.A., Oestman-Smith I., Watkins H.; "Mutations of the light meromyosin domain of the beta-myosin heavy chain rod in hypertrophic cardiomyopathy."; Circ. Res. 90:263-269(2002).
[53]	VARIANTS CMH1 GLN-249; THR-349; GLN-403; ARG-595; MET-606; GLN-719; TRP-719; GLU-927 DEL AND LYS-1555. DOI=10.1002/humu.10074; PubMed=11968089 [NCBI, ExPASy, EBI, Israel, Japan] Waldmueller S., Freund P., Mauch S., Toder R., Vosberg H.-P.; "Low-density DNA microarrays are versatile tools to screen for known mutations in hypertrophic cardiomyopathy."; Hum. Mutat. 19:560-569(2002).
[54]	VARIANT MYOSIN STORAGE MYOPATHY TRP-1845. DOI=10.1002/ana.10693; PubMed=14520662 [NCBI, ExPASy, EBI, Israel, Japan] Tajsharghi H., Thornell L.-E., Lindberg C., Lindvall B., Henriksson K.-G., Oldfors A.; "Myosin storage myopathy associated with a heterozygous missense mutation in MYH7."; Ann. Neurol. 54:494-500(2003).
[55]	VARIANTS CMH1 CYS-453; MET-517 AND GLU-734. DOI=10.1016/j.bbrc.2003.08.014; PubMed=12951062 [NCBI, ExPASy, EBI, Israel, Japan] Nanni L., Pieroni M., Chimenti C., Simionati B., Zimbello R., Maseri A., Frustaci A., Lanfranchi G.; "Hypertrophic cardiomyopathy: two homozygous cases with 'typical' hypertrophic cardiomyopathy and three new mutations in cases with progression to dilated cardiomyopathy."; Biochem. Biophys. Res. Commun. 309:391-398(2003).
[56]	VARIANTS CMH1 THR-190; MET-320; VAL-390; VAL-601; MET-606; CYS-694; GLU-778 AND GLN-846. DOI=10.1016/S0008-6363(02)00711-3; PubMed=12566107 [NCBI, ExPASy, EBI, Israel, Japan] Havndrup O., Bundgaard H., Andersen P.S., Larsen L.A., Vuust J., Kjeldsen K., Christiansen M.; "Outcome of clinical versus genetic family screening in hypertrophic cardiomyopathy with focus on cardiac beta-myosin gene mutations."; Cardiovasc. Res. 57:347-357(2003).
[57]	VARIANTS CMH1 MET-39; ASN-188; HIS-204; SER-232; GLN-249; THR-263; THR-355; LEU-403; GLN-403; TRP-403; VAL-428; THR-443; CYS-453; SER-479; LYS-483; MET-606; ILE-659; SER-663; HIS-663; CYS-671; ARG-716; GLN-719; TRP-719; CYS-723; GLU-733; ARG-741; ARG-768; GLU-778; HIS-787; THR-852; GLY-869; GLU-883 DEL; GLU-930 DEL; ARG-1135; GLN-1218; MET-1377; THR-1379; TRP-1382 AND THR-1777, AND VARIANT MET-1692. DOI=10.1161/01.CIR.0000066323.15244.54; PubMed=12707239 [NCBI, ExPASy, EBI, Israel, Japan] Richard P., Charron P., Carrier L., Ledeuil C., Cheav T., Pichereau C., Benaiche A., Isnard R., Dubourg O., Burban M., Gueffet J.-P., Millaire A., Desnos M., Schwartz K., Hainque B., Komajda M.; "Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy."; Circulation 107:2227-2232(2003).
[58]	ERRATUM. Richard P., Charron P., Carrier L., Ledeuil C., Cheav T., Pichereau C., Benaiche A., Isnard R., Dubourg O., Burban M., Gueffet J.-P., Millaire A., Desnos M., Schwartz K., Hainque B., Komajda M.; Circulation 109:3258-3258(2004).
[59]	VARIANTS CMH1 TRP-143; TRP-403; ILE-411; SER-584; HIS-694; TRP-719; THR-736; PHE-796; ILE-824; HIS-870; PHE-905; GLN-924 AND ASN-928. DOI=10.1034/j.1399-0004.2003.00151.x; PubMed=12974739 [NCBI, ExPASy, EBI, Israel, Japan] Erdmann J., Daehmlow S., Wischke S., Senyuva M., Werner U., Raible J., Tanis N., Dyachenko S., Hummel M., Hetzer R., Regitz-Zagrosek V.; "Mutation spectrum in a large cohort of unrelated consecutive patients with hypertrophic cardiomyopathy."; Clin. Genet. 64:339-349(2003).
[60]	VARIANTS CMH1 GLY-143; ILE-148; GLN-207; LEU-211; GLU-351; GLN-403; SER-479; ALA-500; ARG-571; HIS-663; CYS-671; THR-736; GLY-763; ASN-782; LEU-822; GLU-882 AND VAL-908. DOI=10.1089/109065703321560895; PubMed=12820698 [NCBI, ExPASy, EBI, Israel, Japan] Mohiddin S.A., Begley D.A., McLam E., Cardoso J.-P., Winkler J.B., Sellers J.R., Fananapazir L.; "Utility of genetic screening in hypertrophic cardiomyopathy: prevalence and significance of novel and double (homozygous and heterozygous) beta-myosin mutations."; Genet. Test. 7:21-27(2003).
[61]	VARIANTS CMH1 THR-196; LEU-211; GLN-249; GLN-403; LEU-404; ILE-411; CYS-453; ARG-716; CYS-870; VAL-908 AND LYS-930. DOI=10.1136/heart.89.10.1179; PubMed=12975413 [NCBI, ExPASy, EBI, Israel, Japan] Woo A., Rakowski H., Liew J.C., Zhao M.-S., Liew C.-C., Parker T.G., Zeller M., Wigle E.D., Sole M.J.; "Mutations of the beta myosin heavy chain gene in hypertrophic cardiomyopathy: critical functional sites determine prognosis."; Heart 89:1179-1185(2003).
[62]	VARIANTS CMH1 VAL-774 AND ASN-782. PubMed=12590187 [NCBI, ExPASy, EBI, Israel, Japan] Moric E., Mazurek U., Polonska J., Domal-Kwiatkowska D., Smolik S., Kozakiewicz K., Tendera M., Wilczok T.; "Three novel mutations in exon 21 encoding beta-cardiac myosin heavy chain."; J. Appl. Genet. 44:103-109(2003).
[63]	VARIANTS CMH1 GLU-430 AND LYS-924. DOI=10.1016/S0022-2828(03)00146-9; PubMed=12818575 [NCBI, ExPASy, EBI, Israel, Japan] Moerner S., Richard P., Kazzam E., Hellman U., Hainque B., Schwartz K., Waldenstroem A.; "Identification of the genotypes causing hypertrophic cardiomyopathy in northern Sweden."; J. Mol. Cell. Cardiol. 35:841-849(2003).
[64]	LACK OF ASSOCIATION OF VARIANT MET-1692 WITH HYPERTROPHIC CARDIOMYOPATHY. Richard P.; Unpublished observations (OCT-2004).
[65]	VARIANTS MPD1 PRO-1500; LYS-1617 DEL; PRO-1663; PRO-1706 AND LYS-1729 DEL. DOI=10.1086/424760; PubMed=15322983 [NCBI, ExPASy, EBI, Israel, Japan] Meredith C., Herrmann R., Parry C., Liyanage K., Dye D.E., Durling H.J., Duff R.M., Beckman K., de Visser M., van der Graaff M.M., Hedera P., Fink J.K., Petty E.M., Lamont P., Fabian V., Bridges L., Voit T., Mastaglia F.L., Laing N.G.; "Mutations in the slow skeletal muscle fiber myosin heavy chain gene (MYH7) cause Laing early-onset distal myopathy (MPD1)."; Am. J. Hum. Genet. 75:703-708(2004).
[66]	VARIANTS CMH1 HIS-115; GLN-143; MET-263; CYS-312; THR-349; VAL-385; GLN-403; MET-404; VAL-407; VAL-428; MET-440; CYS-453; THR-511; ARG-515; CYS-663; HIS-663; CYS-694; ARG-716; GLN-719; ARG-741; VAL-778; THR-797; LYS-847 DEL; CYS-858; HIS-869; GLY-894; VAL-908; LYS-921; LYS-924; LYS-931; HIS-953; SER-1057; LYS-1356; MET-1377; TRP-1420; ASN-1459; SER-1513; LYS-1768; MET-1854 AND MET-1929, AND VARIANTS CYS-1491 AND ASN-1919. DOI=10.1016/j.jacc.2004.04.039; PubMed=15358028 [NCBI, ExPASy, EBI, Israel, Japan] Van Driest S.L., Jaeger M.A., Ommen S.R., Will M.L., Gersh B.J., Tajik A.J., Ackerman M.J.; "Comprehensive analysis of the beta-myosin heavy chain gene in 389 unrelated patients with hypertrophic cardiomyopathy."; J. Am. Coll. Cardiol. 44:602-610(2004).
[67]	VARIANT MYOSIN STORAGE MYOPATHY LEU-1901. PubMed=15136674 [NCBI, ExPASy, EBI, Israel, Japan] Bohlega S., Abu-Amero S.N., Wakil S.M., Carroll P., Al-Amr R., Lach B., Al-Sayed Y., Cupler E.J., Meyer B.F.; "Mutation of the slow myosin heavy chain rod domain underlies hyaline body myopathy."; Neurology 62:1518-1521(2004).
[68]	VARIANTS CMH1 VAL-26; GLN-143; ARG-425; THR-450; PHE-511; GLN-615; CYS-663; HIS-663; PRO-734; ARG-741; THR-822; GLU-823; HIS-858; LYS-924 AND LYS-930. DOI=10.1016/j.cccn.2004.09.016; PubMed=15563892 [NCBI, ExPASy, EBI, Israel, Japan] Song L., Zou Y., Wang J., Wang Z., Zhen Y., Lou K., Zhang Q., Wang X., Wang H., Li J., Hui R.; "Mutations profile in Chinese patients with hypertrophic cardiomyopathy."; Clin. Chim. Acta 351:209-216(2005).
[69]	VARIANTS CMD1S THR-201; ASN-412; VAL-550; ASN-1019; SER-1193; LYS-1426 AND CYS-1634, AND VARIANT CYS-1491. DOI=10.1093/eurheartj/ehi193; PubMed=15769782 [NCBI, ExPASy, EBI, Israel, Japan] Villard E., Duboscq-Bidot L., Charron P., Benaiche A., Conraads V., Sylvius N., Komajda M.; "Mutation screening in dilated cardiomyopathy: prominent role of the beta myosin heavy chain gene."; Eur. Heart J. 26:794-803(2005).
[70]	VARIANTS CMH1 LYS-1327; TRP-1712 AND LYS-1753, AND VARIANTS CYS-1475 AND CYS-1491. DOI=10.1038/sj.ejhg.5201310; PubMed=15483641 [NCBI, ExPASy, EBI, Israel, Japan] Hougs L., Havndrup O., Bundgaard H., Koeber L., Vuust J., Larsen L.A., Christiansen M., Andersen P.S.; "One third of Danish hypertrophic cardiomyopathy patients with MYH7 mutations have mutations in MYH7 rod region."; Eur. J. Hum. Genet. 13:161-165(2005).
[71]	VARIANTS CMH1 VAL-227; GLY-328; GLU-351; GLN-403; TRP-403; ILE-411; THR-435; CYS-453; HIS-453; MET-606; CYS-663; GLN-719; TRP-719; HIS-787; GLY-894; VAL-908 AND LYS-927, AND VARIANT CYS-1519. DOI=10.1136/jcp.2004.021642; PubMed=15858117 [NCBI, ExPASy, EBI, Israel, Japan] Yu B., Sawyer N.A., Caramins M., Yuan Z.G., Saunderson R.B., Pamphlett R., Richmond D.R., Jeremy R.W., Trent R.J.; "Denaturing high performance liquid chromatography: high throughput mutation screening in familial hypertrophic cardiomyopathy and SNP genotyping in motor neurone disease."; J. Clin. Pathol. 58:479-485(2005).
[72]	VARIANTS CMH1 ASN-146; LEU-186; MET-606; HIS-663; ALA-698; GLN-719; CYS-723; THR-736; GLU-742 AND ASP-1057. DOI=10.1136/jmg.2005.033886; PubMed=16199542 [NCBI, ExPASy, EBI, Israel, Japan] Ingles J., Doolan A., Chiu C., Seidman J., Seidman C., Semsarian C.; "Compound and double mutations in patients with hypertrophic cardiomyopathy: implications for genetic testing and counselling."; J. Med. Genet. 42:E59-E59(2005).
[73]	VARIANTS CMH1 LEU-211; TRP-403; CYS-453; CYS-501; ARG-576; THR-736; TRP-741; GLY-901; ASN-928; LYS-1356 AND THR-1454. DOI=10.1007/s00109-005-0635-7; PubMed=15856146 [NCBI, ExPASy, EBI, Israel, Japan] Perrot A., Schmidt-Traub H., Hoffmann B., Prager M., Bit-Avragim N., Rudenko R.I., Usupbaeva D.A., Kabaeva Z., Imanov B., Mirrakhimov M.M., Dietz R., Wycisk A., Tendera M., Gessner R., Osterziel K.J.; "Prevalence of cardiac beta-myosin heavy chain gene mutations in patients with hypertrophic cardiomyopathy."; J. Mol. Med. 83:468-477(2005).
[74]	VARIANT CMH1 HIS-870. DOI=10.1111/j.1399-0004.2006.00599.x; PubMed=16650083 [NCBI, ExPASy, EBI, Israel, Japan] Tanjore R.R., Sikindlapuram A.D., Calambur N., Thakkar B., Kerkar P.G., Nallari P.; "Genotype-phenotype correlation of R870H mutation in hypertrophic cardiomyopathy."; Clin. Genet. 69:434-436(2006).
[75]	VARIANTS CMH1 VAL-515 AND CYS-858. PubMed=16938236 [NCBI, ExPASy, EBI, Israel, Japan] Mora R., Merino J.L., Peinado R., Olias F., Garcia-Guereta L., del Cerro M.J., Tarin M.N., Molano J.; "Hypertrophic cardiomyopathy: infrequent mutation of the cardiac beta-myosin heavy-chain gene."; Rev. Esp. Cardiol. 59:846-849(2006).
[76]	VARIANT CMH1 LYS-1883. DOI=10.1212/01.wnl.0000257131.13438.2c; PubMed=17372140 [NCBI, ExPASy, EBI, Israel, Japan] Tajsharghi H., Oldfors A., Macleod D.P., Swash M.; "Homozygous mutation in MYH7 in myosin storage myopathy and cardiomyopathy."; Neurology 68:962-962(2007).
[77]	VARIANT MPD1 MET-441. DOI=10.1212/01.wnl.0000264430.55233.72; PubMed=17548557 [NCBI, ExPASy, EBI, Israel, Japan] Darin N., Tajsharghi H., Oestman-Smith I., Gilljam T., Oldfors A.; "New skeletal myopathy and cardiomyopathy associated with a missense mutation in MYH7."; Neurology 68:2041-2042(2007).
[78]	VARIANT MYOSIN STORAGE MYOPATHY TRP-1845, AND VARIANT SPMM TRP-1845. DOI=10.1016/j.nmd.2007.01.010; PubMed=17336526 [NCBI, ExPASy, EBI, Israel, Japan] Pegoraro E., Gavassini B.F., Borsato C., Melacini P., Vianello A., Stramare R., Cenacchi G., Angelini C.; "MYH7 gene mutation in myosin storage myopathy and scapulo-peroneal myopathy."; Neuromuscul. Disord. 17:321-329(2007).
[79]	VARIANTS CMH1 ASN-146; MET-606; HIS-663; GLN-719; MET-763; CYS-787; VAL-908; LYS-924 AND MET-1414. DOI=10.1056/NEJMoa075463; PubMed=18403758 [NCBI, ExPASy, EBI, Israel, Japan] Morita H., Rehm H.L., Menesses A., McDonough B., Roberts A.E., Kucherlapati R., Towbin J.A., Seidman J.G., Seidman C.E.; "Shared genetic causes of cardiac hypertrophy in children and adults."; N. Engl. J. Med. 358:1899-1908(2008).

Comments

FUNCTION: Muscle contraction.
SUBUNIT: Muscle myosin is a hexameric protein that consists of 2 heavy chain subunits (MHC), 2 alkali light chain subunits (MLC) and 2 regulatory light chain subunits (MLC-2).
INTERACTION:
Q9NRI5:DISC1; NbExp=2; IntAct=EBI-519141, EBI-529989;
P78549:NTHL1; NbExp=1; IntAct=EBI-519141, EBI-1049350;
SUBCELLULAR LOCATION: Cytoplasm, myofibril. Note=Thick filaments of the myofibrils.
DOMAIN: The rodlike tail sequence is highly repetitive, showing cycles of a 28-residue repeat pattern composed of 4 heptapeptides, characteristic for alpha-helical coiled coils.
DISEASE: Defects in MYH7 are the cause of cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]. Familial hypertrophic cardiomyopathy is a hereditary heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death.
DISEASE: Defects in MYH7 are the cause of myosin storage myopathy [MIM:608358]. In this disorder, muscle biopsy shows type 1 fiber predominance and increased interstitial fat and connective tissue. Inclusion bodies consisting of the beta cardiac myosin heavy chain are present in the majority of type 1 fibers, but not in type 2 fibers.
DISEASE: Defects in MYH7 are the cause of scapuloperoneal myopathy MYH7-related (SPMM) [MIM:181430]; also called scapuloperoneal syndrome myopathic type. Scapuloperoneal myopathy was initially described as "une forme hereditaire d'atrophie musculaire progressive" beginning in the lower legs and affecting the shoulder region earlier and more severely than distal arm.
DISEASE: Defects in MYH7 are a cause of cardiomyopathy dilated type 1S (CMD1S) [MIM:160760]. Dilated cardiomyopathy is a disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death.
DISEASE: Defects in MYH7 are the cause of Laing early-onset distal myopathy (MPD1) [MIM:160500]. MPD1 is an autosomal dominant disorder which differs from other distal myopathies in that onset is as early as 4 years of age. Selective weakness of the anterior tibial muscles is followed by weakness of the finger extensors and selected proximal muscle groups such as the hip abductors and rotators, the shoulder abductors and the sternocleidomastoids.
MISCELLANEOUS: Each myosin heavy chain can be split into 1 light meromyosin (LMM) and 1 heavy meromyosin (HMM). It can later be split further into 2 globular subfragments (S1) and 1 rod-shaped subfragment (S2).
MISCELLANEOUS: The cardiac alpha isoform is a 'fast' ATPase myosin, while the beta isoform is a 'slow' ATPase.
SIMILARITY: Contains 1 IQ domain.
SIMILARITY: Contains 1 myosin head-like domain.
WEB RESOURCE: Name=Familial hypertrophic cardiomyopathy mutation database; URL="http://www.angis.org.au/Databases/Heart/heartbreak.html";.
WEB RESOURCE: Name=GeneReviews; URL="http://www.genetests.org/query?gene=MYH7";.

Copyright

Copyrighted by the UniProt Consortium, see http://www.uniprot.org/terms. Distributed under the Creative Commons Attribution-NoDerivs License.

Cross-references

Sequence databases

EMBL

M57965; AAA51837.1; -; Genomic_DNA.	[EMBL / GenBank / DDBJ] [CoDingSequence]
M58018; AAA62830.1; -; mRNA.	[EMBL / GenBank / DDBJ] [CoDingSequence]
X52889; CAA37068.1; -; Genomic_DNA.	[EMBL / GenBank / DDBJ] [CoDingSequence]
AJ238393; CAC20413.1; -; Genomic_DNA.	[EMBL / GenBank / DDBJ] [CoDingSequence]
BC112171; AAI12172.1; -; mRNA.	[EMBL / GenBank / DDBJ] [CoDingSequence]
BC112173; AAI12174.1; -; mRNA.	[EMBL / GenBank / DDBJ] [CoDingSequence]
M25135; AAA60384.1; -; Genomic_DNA.	[EMBL / GenBank / DDBJ] [CoDingSequence]
M25133; AAA60384.1; JOINED; Genomic_DNA.	[EMBL / GenBank / DDBJ] [CoDingSequence]
M25134; AAA60384.1; JOINED; Genomic_DNA.	[EMBL / GenBank / DDBJ] [CoDingSequence]
M27636; AAA79019.1; -; Genomic_DNA.	[EMBL / GenBank / DDBJ] [CoDingSequence]
X04627; CAA28300.1; -; Genomic_DNA.	[EMBL / GenBank / DDBJ] [CoDingSequence]
X04628; CAA28300.1; JOINED; Genomic_DNA.	[EMBL / GenBank / DDBJ] [CoDingSequence]
X04629; CAA28300.1; JOINED; Genomic_DNA.	[EMBL / GenBank / DDBJ] [CoDingSequence]
X04630; CAA28300.1; JOINED; Genomic_DNA.	[EMBL / GenBank / DDBJ] [CoDingSequence]
X04631; CAA28300.1; JOINED; Genomic_DNA.	[EMBL / GenBank / DDBJ] [CoDingSequence]
X04632; CAA28300.1; JOINED; Genomic_DNA.	[EMBL / GenBank / DDBJ] [CoDingSequence]
X04633; CAA28300.1; JOINED; Genomic_DNA.	[EMBL / GenBank / DDBJ] [CoDingSequence]
X51591; CAA35940.1; -; mRNA.	[EMBL / GenBank / DDBJ] [CoDingSequence]
X03741; CAA27381.1; ALT_SEQ; mRNA.	[EMBL / GenBank / DDBJ] [CoDingSequence]
X06976; CAA30039.1; -; mRNA.	[EMBL / GenBank / DDBJ] [CoDingSequence]
M17712; AAA36343.1; -; mRNA.	[EMBL / GenBank / DDBJ] [CoDingSequence]
M21665; AAA36345.1; -; mRNA.	[EMBL / GenBank / DDBJ] [CoDingSequence]
X05631; CAA29119.1; -; mRNA.	[EMBL / GenBank / DDBJ] [CoDingSequence]

IPI00025880; -.

A37102; A37102.

NP_000248.2; -.

3D structure databases

PDB

1IK2; Model; -; A=1-841.	[ExPASy / RCSB / EBI]
2FXM; X-ray; 2.70 A; A/B=838-963.	[ExPASy / RCSB / EBI]
2FXO; X-ray; 2.50 A; A/B/C/D=838-963.	[ExPASy / RCSB / EBI]
3DTP; EM; -; A=842-961, B=842-963.	[ExPASy / RCSB / EBI]

Detailed list of linked structures.

PDBsum

1IK2; -.
2FXM; -.
2FXO; -.
3DTP; -.

ModBase

P12883.

Protein-protein interaction databases

IntAct

P12883; 2.

PTM databases

PhosphoSite

P12883; -.

Organism-specific databases

GC14M022951; -.

HGNC:7577; MYH7.

CAB015384; -.
HPA001239; -.
HPA001349; -.

MIM

160500; phenotype. [NCBI / EBI]
160760; gene+phenotype. [NCBI / EBI]
181430; phenotype. [NCBI / EBI]
192600; phenotype. [NCBI / EBI]
608358; phenotype. [NCBI / EBI]

Orphanet

153; Cardiomyopathy, dilated, with conduction defect.
155; Cardiomyopathy, hypertrophic, primary or idiopathic.
53698; Hyaline body myopathy.
59135; Laing distal myopathy.
85146; Scapuloperoneal amyotrophy.
83618; Severe dilated cardiomyopathy due to lamin A/C mutation.

PharmGKB

PA31374; -.

Gene expression databases

ArrayExpress

P12883; -.

Bgee

P12883; -.

GermOnline

ENSG00000092054; Homo sapiens.

Ontologies

GO:0005925;	Cellular component: focal adhesion (inferred from direct assay from HPA).
GO:0005730;	Cellular component: nucleolus (inferred from direct assay from HPA).
GO:0005863;	Cellular component: striated muscle thick filament (inferred from electronic annotation from UniProtKB-KW).
GO:0003779;	Molecular function: actin binding (inferred from electronic annotation from UniProtKB-KW).
GO:0030898;	Molecular function: actin-dependent ATPase activity (inferred from mutant phenotype from HGNC).
GO:0005524;	Molecular function: ATP binding (inferred by curator from HGNC).
GO:0005516;	Molecular function: calmodulin binding (inferred from electronic annotation from UniProtKB-KW).
GO:0000146;	Molecular function: microfilament motor activity (non-traceable author statement from UniProtKB).
GO:0008307;	Molecular function: structural constituent of muscle (inferred from direct assay from HGNC).
GO:0007512;	Biological process: adult heart development (inferred from mutant phenotype from HGNC).
GO:0006200;	Biological process: ATP catabolic process (inferred from direct assay from UniProtKB).
GO:0030049;	Biological process: muscle filament sliding (inferred from mutant phenotype from HGNC).
GO:0002027;	Biological process: regulation of heart rate (inferred from direct assay from HGNC).
GO:0006941;	Biological process: striated muscle contraction (inferred from electronic annotation from UniProtKB-KW).
GO:0055010;	Biological process: ventricular cardiac muscle morphogenesis (inferred from mutant phenotype from UniProtKB).
QuickGo view.

Family and domain databases

InterPro

IPR000048; IQ_CaM_bd_region.
IPR015650; Myosin_hc.
IPR001609; Myosin_head.
IPR004009; Myosin_N.
IPR002928; Myosin_tail.
Graphical view of domain structure.

PANTHER

PTHR13140:SF22; Myosin_hc; 1.

Pfam

PF00612; IQ; 1.
PF00063; Myosin_head; 1.
PF02736; Myosin_N; 1.
PF01576; Myosin_tail_1; 1.
Pfam graphical view of domain structure.

PRINTS

PR00193; MYOSINHEAVY.

ProDom

PD000355; Myosin_head; 1.
[Domain structure / List of seq. sharing at least 1 domain]

SMART

SM00015; IQ; 1.
SM00242; MYSc; 1.
SMART graphical view of domain structure.

PROSITE

PS50096; IQ; 1.
PROSITE graphical view of domain structure (profiles).

Proteomic databases

PRIDE

P12883; -.

Genome annotation databases

Ensembl

ENSG00000092054; Homo sapiens. [Contig view]

GeneID

4625; -.

KEGG

hsa:4625; -.

Phylogenomic databases

HOVERGEN

P12883; -.

OMA

P12883; DRSKKEQ.

Other

17802; -.

MYH7; Homo sapiens.

View cluster of proteins with at least 50% / 90% / 100% identity.

Keywords

3D-structure; Actin-binding; ATP-binding; Calmodulin-binding; Cardiomyopathy; Coiled coil; Cytoplasm; Disease mutation; Isopeptide bond; Methylation; Motor protein; Muscle protein; Myosin; Nucleotide-binding; Phosphoprotein; Polymorphism; Thick filament; Ubl conjugation.

Features

Feature table viewer

Feature aligner

`Key`	`From To`	`Length`	`Description`	`FTId`
`CHAIN`	`1 1935`	`1935`	`Myosin-7.`	`PRO_0000123407`
`DOMAIN`	`1 780`	`780`	`Myosin head-like.`
`DOMAIN`	`781 810`	`30`	`IQ.`
`NP_BIND`	`178 185`	`8`	`ATP.`
`REGION`	`655 677`	`23`	`Actin-binding.`
`REGION`	`757 771`	`15`	`Actin-binding.`
`COILED`	`839 1935`	`1097`	`Potential.`
`MOD_RES`	`129 129`		`N6,N6,N6-trimethyllysine (Potential).`
`MOD_RES`	`1037 1037`		`Phosphoserine.`
`CROSSLNK`	`207 207`		`Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin) (By similarity).`
`CROSSLNK`	`213 213`		`Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin) (By similarity).`
`CROSSLNK`	`1531 1531`		`Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin) (By similarity).`
`CROSSLNK`	`1537 1537`		`Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin) (By similarity).`
`VARIANT`	`3 3`	`1`	`D -> A (in dbSNP:rs3729993 [NCBI]).`	`VAR_029430`
`VARIANT`	`26 26`	`1`	`A -> V (in CMH1).`	`VAR_004566`
`VARIANT`	`39 39`	`1`	`V -> M (in CMH1).`	`VAR_019845`
`VARIANT`	`59 59`	`1`	`V -> I (in CMH1).`	`VAR_004567`
`VARIANT`	`107 107`	`1`	`D -> E (in dbSNP:rs2754166 [NCBI]).`	`VAR_017745`
`VARIANT`	`115 115`	`1`	`Y -> H (in CMH1).`	`VAR_042762`
`VARIANT`	`124 124`	`1`	`T -> I (in CMH1).`	`VAR_020797`
`VARIANT`	`143 143`	`1`	`R -> G (in CMH1).`	`VAR_042763`
`VARIANT`	`143 143`	`1`	`R -> Q (in CMH1).`	`VAR_004568`
`VARIANT`	`143 143`	`1`	`R -> W (in CMH1).`	`VAR_029431`
`VARIANT`	`146 146`	`1`	`K -> N (in CMH1).`	`VAR_042764`
`VARIANT`	`148 148`	`1`	`S -> I (in CMH1).`	`VAR_042765`
`VARIANT`	`162 162`	`1`	`Y -> C (in CMH1).`	`VAR_020798`
`VARIANT`	`186 186`	`1`	`V -> L (in CMH1).`	`VAR_042766`
`VARIANT`	`187 187`	`1`	`N -> K (in CMH1).`	`VAR_020799`
`VARIANT`	`188 188`	`1`	`T -> N (in CMH1).`	`VAR_019846`
`VARIANT`	`190 190`	`1`	`R -> T (in CMH1).`	`VAR_020800`
`VARIANT`	`196 196`	`1`	`A -> T (in CMH1).`	`VAR_042767`
`VARIANT`	`201 201`	`1`	`I -> T (in CMD1S).`	`VAR_042768`
`VARIANT`	`204 204`	`1`	`R -> H (in CMH1).`	`VAR_019847`
`VARIANT`	`207 207`	`1`	`K -> Q (in CMH1).`	`VAR_042769`
`VARIANT`	`211 211`	`1`	`P -> L (in CMH1).`	`VAR_042770`
`VARIANT`	`222 222`	`1`	`Q -> K (in CMH1).`	`VAR_020801`
`VARIANT`	`223 223`	`1`	`A -> T (in CMD1S).`	`VAR_017746`
`VARIANT`	`227 227`	`1`	`L -> V (in CMH1).`	`VAR_042771`
`VARIANT`	`232 232`	`1`	`N -> S (in CMH1).`	`VAR_019848`
`VARIANT`	`244 244`	`1`	`F -> L (in CMH1).`	`VAR_020802`
`VARIANT`	`249 249`	`1`	`R -> Q (in CMH1; dbSNP:rs3218713 [NCBI]).`	`VAR_004569`
`VARIANT`	`256 256`	`1`	`G -> E (in CMH1).`	`VAR_004570`
`VARIANT`	`263 263`	`1`	`I -> M (in CMH1).`	`VAR_042772`
`VARIANT`	`263 263`	`1`	`I -> T (in CMH1).`	`VAR_004571`
`VARIANT`	`312 312`	`1`	`F -> C (in CMH1).`	`VAR_042773`
`VARIANT`	`320 320`	`1`	`V -> M (in CMH1).`	`VAR_020803`
`VARIANT`	`328 328`	`1`	`E -> G (in CMH1).`	`VAR_042774`
`VARIANT`	`349 349`	`1`	`M -> T (in CMH1).`	`VAR_004572`
`VARIANT`	`351 351`	`1`	`K -> E (in CMH1).`	`VAR_042775`
`VARIANT`	`355 355`	`1`	`A -> T (in CMH1).`	`VAR_019849`
`VARIANT`	`383 383`	`1`	`K -> N (in CMH1).`	`VAR_042776`
`VARIANT`	`385 385`	`1`	`A -> V (in CMH1).`	`VAR_042777`
`VARIANT`	`390 390`	`1`	`L -> V (in CMH1).`	`VAR_020804`
`VARIANT`	`403 403`	`1`	`R -> L (in CMH1).`	`VAR_004573`
`VARIANT`	`403 403`	`1`	`R -> Q (in CMH1).`	`VAR_004574`
`VARIANT`	`403 403`	`1`	`R -> W (in CMH1; dbSNP:rs3218714 [NCBI]).`	`VAR_004575`
`VARIANT`	`404 404`	`1`	`V -> L (in CMH1).`	`VAR_042778`
`VARIANT`	`404 404`	`1`	`V -> M (in CMH1).`	`VAR_042779`
`VARIANT`	`406 406`	`1`	`V -> M (in CMH1).`	`VAR_020805`
`VARIANT`	`407 407`	`1`	`G -> V (in CMH1).`	`VAR_042780`
`VARIANT`	`411 411`	`1`	`V -> I (in CMH1).`	`VAR_029432`
`VARIANT`	`412 412`	`1`	`T -> N (in CMD1S).`	`VAR_042781`
`VARIANT`	`425 425`	`1`	`G -> R (in CMH1).`	`VAR_042782`
`VARIANT`	`428 428`	`1`	`A -> V (in CMH1).`	`VAR_019850`
`VARIANT`	`430 430`	`1`	`A -> E (in CMH1).`	`VAR_029433`
`VARIANT`	`435 435`	`1`	`M -> T (in CMH1).`	`VAR_042783`
`VARIANT`	`440 440`	`1`	`V -> M (in CMH1).`	`VAR_042784`
`VARIANT`	`441 441`	`1`	`T -> M (in MPD1).`	`VAR_042785`
`VARIANT`	`443 443`	`1`	`I -> T (in CMH1).`	`VAR_019851`
`VARIANT`	`450 450`	`1`	`K -> E (in CMH1).`	`VAR_042786`
`VARIANT`	`450 450`	`1`	`K -> T (in CMH1).`	`VAR_042787`
`VARIANT`	`453 453`	`1`	`R -> C (in CMH1).`	`VAR_004576`
`VARIANT`	`453 453`	`1`	`R -> H (in CMH1).`	`VAR_042788`
`VARIANT`	`466 466`	`1`	`E -> Q (in dbSNP:rs4981473 [NCBI]).`	`VAR_029434`
`VARIANT`	`479 479`	`1`	`N -> S (in CMH1).`	`VAR_019852`
`VARIANT`	`483 483`	`1`	`E -> K (in CMH1).`	`VAR_019853`
`VARIANT`	`499 499`	`1`	`E -> K (in CMH1; dbSNP:rs3218715 [NCBI]).`	`VAR_020806`
`VARIANT`	`500 500`	`1`	`E -> A (in CMH1).`	`VAR_042789`
`VARIANT`	`501 501`	`1`	`Y -> C (in CMH1).`	`VAR_042790`
`VARIANT`	`511 511`	`1`	`I -> F (in CMH1).`	`VAR_042791`
`VARIANT`	`511 511`	`1`	`I -> T (in CMH1).`	`VAR_042792`
`VARIANT`	`513 513`	`1`	`F -> C (in CMH1).`	`VAR_004577`
`VARIANT`	`515 515`	`1`	`M -> R (in CMH1).`	`VAR_042793`
`VARIANT`	`515 515`	`1`	`M -> V (in CMH1; infrequent).`	`VAR_039562`
`VARIANT`	`517 517`	`1`	`L -> M (in CMH1).`	`VAR_029435`
`VARIANT`	`532 532`	`1`	`S -> P (in CMD1S).`	`VAR_017747`
`VARIANT`	`550 550`	`1`	`A -> V (in CMD1S).`	`VAR_042794`
`VARIANT`	`571 571`	`1`	`G -> R (in CMH1).`	`VAR_042795`
`VARIANT`	`576 576`	`1`	`H -> R (in CMH1).`	`VAR_042796`
`VARIANT`	`584 584`	`1`	`G -> R (in CMH1).`	`VAR_004578`
`VARIANT`	`584 584`	`1`	`G -> S (in CMH1).`	`VAR_029436`
`VARIANT`	`587 587`	`1`	`D -> V (in CMH1).`	`VAR_004579`
`VARIANT`	`595 595`	`1`	`Q -> R (in CMH1).`	`VAR_020807`
`VARIANT`	`601 601`	`1`	`L -> V (in CMH1).`	`VAR_020808`
`VARIANT`	`602 602`	`1`	`N -> S (in CMH1).`	`VAR_004580`
`VARIANT`	`606 606`	`1`	`V -> M (in CMH1; in cis with V-728 gives a more severe phenotype).`	`VAR_004581`
`VARIANT`	`615 615`	`1`	`K -> N (in CMH1).`	`VAR_004582`
`VARIANT`	`615 615`	`1`	`K -> Q (in CMH1).`	`VAR_042797`
`VARIANT`	`642 642`	`1`	`S -> L (in CMD1S).`	`VAR_017748`
`VARIANT`	`659 659`	`1`	`M -> I (in CMH1).`	`VAR_019854`
`VARIANT`	`663 663`	`1`	`R -> C (in CMH1).`	`VAR_042798`
`VARIANT`	`663 663`	`1`	`R -> H (in CMH1).`	`VAR_019855`
`VARIANT`	`663 663`	`1`	`R -> S (in CMH1).`	`VAR_019856`
`VARIANT`	`671 671`	`1`	`R -> C (in CMH1).`	`VAR_019857`
`VARIANT`	`694 694`	`1`	`R -> C (in CMH1).`	`VAR_020809`
`VARIANT`	`694 694`	`1`	`R -> H (in CMH1).`	`VAR_029437`
`VARIANT`	`696 696`	`1`	`N -> S (in CMH1).`	`VAR_020810`
`VARIANT`	`698 698`	`1`	`V -> A (in CMH1).`	`VAR_042799`
`VARIANT`	`712 712`	`1`	`R -> L (in CMH1).`	`VAR_020811`
`VARIANT`	`716 716`	`1`	`G -> R (in CMH1).`	`VAR_004583`
`VARIANT`	`719 719`	`1`	`R -> Q (in CMH1).`	`VAR_017749`
`VARIANT`	`719 719`	`1`	`R -> W (in CMH1).`	`VAR_004584`
`VARIANT`	`723 723`	`1`	`R -> C (in CMH1).`	`VAR_004585`
`VARIANT`	`723 723`	`1`	`R -> G (in CMH1; malignant phenotype).`	`VAR_020812`
`VARIANT`	`728 728`	`1`	`A -> V (in CMH1; in cis with M-606 gives a more severe phenotype).`	`VAR_017750`
`VARIANT`	`731 731`	`1`	`P -> L (in CMH1).`	`VAR_004586`
`VARIANT`	`733 733`	`1`	`G -> E (in CMH1).`	`VAR_019858`
`VARIANT`	`734 734`	`1`	`Q -> E (in CMH1).`	`VAR_029438`
`VARIANT`	`734 734`	`1`	`Q -> P (in CMH1).`	`VAR_042800`
`VARIANT`	`736 736`	`1`	`I -> M (in CMH1).`	`VAR_004587`
`VARIANT`	`736 736`	`1`	`I -> T (in CMH1).`	`VAR_029439`
`VARIANT`	`741 741`	`1`	`G -> R (in CMH1).`	`VAR_004588`
`VARIANT`	`741 741`	`1`	`G -> W (in CMH1).`	`VAR_004589`
`VARIANT`	`742 742`	`1`	`A -> E (in CMH1).`	`VAR_042801`
`VARIANT`	`743 743`	`1`	`E -> D (in CMH1).`	`VAR_014199`
`VARIANT`	`763 763`	`1`	`V -> G (in CMH1).`	`VAR_042802`
`VARIANT`	`763 763`	`1`	`V -> M (in CMH1).`	`VAR_045926`
`VARIANT`	`764 764`	`1`	`F -> L (in CMD1S).`	`VAR_017751`
`VARIANT`	`768 768`	`1`	`G -> R (in CMH1).`	`VAR_019859`
`VARIANT`	`774 774`	`1`	`E -> V (in CMH1).`	`VAR_042803`
`VARIANT`	`778 778`	`1`	`D -> E (in CMH1).`	`VAR_019860`
`VARIANT`	`778 778`	`1`	`D -> G (in CMH1).`	`VAR_004590`
`VARIANT`	`778 778`	`1`	`D -> V (in CMH1).`	`VAR_042804`
`VARIANT`	`782 782`	`1`	`S -> N (in CMH1).`	`VAR_020813`
`VARIANT`	`787 787`	`1`	`R -> C (in CMH1).`	`VAR_045927`
`VARIANT`	`787 787`	`1`	`R -> H (in CMH1).`	`VAR_019861`
`VARIANT`	`796 796`	`1`	`L -> F (in CMH1).`	`VAR_029440`
`VARIANT`	`797 797`	`1`	`A -> T (in CMH1; dbSNP:rs3218716 [NCBI]).`	`VAR_004591`
`VARIANT`	`822 822`	`1`	`M -> L (in CMH1).`	`VAR_042805`
`VARIANT`	`822 822`	`1`	`M -> T (in CMH1).`	`VAR_042806`
`VARIANT`	`823 823`	`1`	`G -> E (in CMH1).`	`VAR_042807`
`VARIANT`	`824 824`	`1`	`V -> I (in CMH1).`	`VAR_029441`
`VARIANT`	`846 846`	`1`	`E -> Q (in CMH1).`	`VAR_020814 [3D]`
`VARIANT`	`847 847`	`1`	`Missing (in CMH1).`	`VAR_042808`
`VARIANT`	`852 852`	`1`	`M -> T (in CMH1).`	`VAR_019862 [3D]`
`VARIANT`	`858 858`	`1`	`R -> C (in CMH1; infrequent).`	`VAR_039563 [3D]`
`VARIANT`	`858 858`	`1`	`R -> H (in CMH1).`	`VAR_042809 [3D]`
`VARIANT`	`869 869`	`1`	`R -> C (in CMH1).`	`VAR_020815 [3D]`
`VARIANT`	`869 869`	`1`	`R -> G (in CMH1).`	`VAR_019863 [3D]`
`VARIANT`	`869 869`	`1`	`R -> H (in CMH1).`	`VAR_042810 [3D]`
`VARIANT`	`870 870`	`1`	`R -> C (in CMH1; dbSNP:rs36211715 [NCBI]).`	`VAR_020816 [3D]`
`VARIANT`	`870 870`	`1`	`R -> H (in CMH1).`	`VAR_004592 [3D]`
`VARIANT`	`877 877`	`1`	`M -> K (in CMH1).`	`VAR_020817 [3D]`
`VARIANT`	`882 882`	`1`	`Q -> E (in CMH1).`	`VAR_042811 [3D]`
`VARIANT`	`883 883`	`1`	`Missing (in CMH1).`	`VAR_019864`
`VARIANT`	`894 894`	`1`	`E -> G (in CMH1).`	`VAR_042812 [3D]`
`VARIANT`	`901 901`	`1`	`A -> G (in CMH1).`	`VAR_042813 [3D]`
`VARIANT`	`905 905`	`1`	`C -> F (in CMH1).`	`VAR_029442 [3D]`
`VARIANT`	`906 906`	`1`	`D -> G (in CMH1).`	`VAR_042814 [3D]`
`VARIANT`	`908 908`	`1`	`L -> V (in CMH1).`	`VAR_004593 [3D]`
`VARIANT`	`921 921`	`1`	`E -> K (in CMH1).`	`VAR_042815 [3D]`
`VARIANT`	`924 924`	`1`	`E -> K (in CMH1).`	`VAR_004594 [3D]`
`VARIANT`	`924 924`	`1`	`E -> Q (in CMH1).`	`VAR_029443 [3D]`
`VARIANT`	`927 927`	`1`	`E -> K (in CMH1).`	`VAR_042816 [3D]`
`VARIANT`	`927 927`	`1`	`Missing (in CMH1).`	`VAR_020818`
`VARIANT`	`928 928`	`1`	`D -> N (in CMH1).`	`VAR_029444 [3D]`
`VARIANT`	`930 930`	`1`	`E -> K (in CMH1).`	`VAR_004595 [3D]`
`VARIANT`	`930 930`	`1`	`Missing (in CMH1).`	`VAR_004596`
`VARIANT`	`931 931`	`1`	`E -> K (in CMH1).`	`VAR_042817 [3D]`
`VARIANT`	`935 935`	`1`	`E -> K (in CMH1).`	`VAR_004597 [3D]`
`VARIANT`	`949 949`	`1`	`E -> K (in CMH1).`	`VAR_004598 [3D]`
`VARIANT`	`953 953`	`1`	`D -> H (in CMH1).`	`VAR_042818 [3D]`
`VARIANT`	`1019 1019`	`1`	`T -> N (in CMD1S).`	`VAR_042819`
`VARIANT`	`1057 1057`	`1`	`G -> D (in CMH1).`	`VAR_042820`
`VARIANT`	`1057 1057`	`1`	`G -> S (in CMH1).`	`VAR_042821`
`VARIANT`	`1124 1124`	`1`	`A -> S (in dbSNP:rs1041961 [NCBI] and dbSNP:rs17420746 [NCBI]).`	`VAR_017753`
`VARIANT`	`1135 1135`	`1`	`L -> R (in CMH1).`	`VAR_019865`
`VARIANT`	`1193 1193`	`1`	`R -> S (in CMD1S).`	`VAR_042822`
`VARIANT`	`1218 1218`	`1`	`E -> Q (in CMH1).`	`VAR_019866`
`VARIANT`	`1327 1327`	`1`	`N -> K (in CMH1).`	`VAR_042823`
`VARIANT`	`1356 1356`	`1`	`E -> K (in CMH1).`	`VAR_042824`
`VARIANT`	`1377 1377`	`1`	`T -> M (in CMH1).`	`VAR_019867`
`VARIANT`	`1379 1379`	`1`	`A -> T (in CMH1).`	`VAR_019868`
`VARIANT`	`1382 1382`	`1`	`R -> W (in CMH1).`	`VAR_019869`
`VARIANT`	`1414 1414`	`1`	`L -> M (in CMH1).`	`VAR_045928`
`VARIANT`	`1420 1420`	`1`	`R -> W (in CMH1).`	`VAR_042825`
`VARIANT`	`1426 1426`	`1`	`E -> K (in CMD1S).`	`VAR_042826`
`VARIANT`	`1454 1454`	`1`	`A -> T (in CMH1).`	`VAR_042827`
`VARIANT`	`1459 1459`	`1`	`K -> N (in CMH1).`	`VAR_042828`
`VARIANT`	`1475 1475`	`1`	`R -> C.`	`VAR_042829`
`VARIANT`	`1491 1491`	`1`	`S -> C (in dbSNP:rs3729823 [NCBI]).`	`VAR_020819`
`VARIANT`	`1500 1500`	`1`	`R -> P (in MPD1).`	`VAR_022369`
`VARIANT`	`1513 1513`	`1`	`T -> S (in CMH1).`	`VAR_042830`
`VARIANT`	`1519 1519`	`1`	`S -> C.`	`VAR_042831`
`VARIANT`	`1555 1555`	`1`	`E -> K (in CMH1).`	`VAR_020820`
`VARIANT`	`1617 1617`	`1`	`Missing (in MPD1).`	`VAR_042832`
`VARIANT`	`1634 1634`	`1`	`R -> C (in CMD1S).`	`VAR_042833`
`VARIANT`	`1663 1663`	`1`	`A -> P (in MPD1).`	`VAR_022370`
`VARIANT`	`1692 1692`	`1`	`V -> M (probable polymorphism; has been originally reported as a hypertrophic cardiomyopathy mutation).`	`VAR_019870`
`VARIANT`	`1706 1706`	`1`	`L -> P (in MPD1).`	`VAR_022371`
`VARIANT`	`1712 1712`	`1`	`R -> W (in CMH1).`	`VAR_042834`
`VARIANT`	`1729 1729`	`1`	`Missing (in MPD1).`	`VAR_042835`
`VARIANT`	`1753 1753`	`1`	`E -> K (in CMH1).`	`VAR_042836`
`VARIANT`	`1768 1768`	`1`	`E -> K (in CMH1).`	`VAR_042837`
`VARIANT`	`1776 1776`	`1`	`S -> G (in CMH1).`	`VAR_020821`
`VARIANT`	`1777 1777`	`1`	`A -> T (in CMH1).`	`VAR_019871`
`VARIANT`	`1845 1845`	`1`	`R -> W (in myosin storage myopathy and SPMM; dbSNP:rs28933098 [NCBI]).`	`VAR_017754`
`VARIANT`	`1854 1854`	`1`	`T -> M (in CMH1).`	`VAR_042838`
`VARIANT`	`1883 1883`	`1`	`E -> K (in CMH1).`	`VAR_042839`
`VARIANT`	`1901 1901`	`1`	`H -> L (in myosin storage myopathy).`	`VAR_042840`
`VARIANT`	`1919 1919`	`1`	`K -> N.`	`VAR_042841`
`VARIANT`	`1929 1929`	`1`	`T -> M (in CMH1).`	`VAR_042842`
`CONFLICT`	`88 88`		`E -> Q (in Ref. 5; AAA60384).`
`CONFLICT`	`672 674`		`CII -> LYH (in Ref. 2; CAA37068).`
`CONFLICT`	`858 858`		`R -> A (in Ref. 2; CAA37068).`
`CONFLICT`	`942 943`		`KL -> NV (in Ref. 2; CAA37068).`
`CONFLICT`	`1077 1077`		`D -> E (in Ref. 9; CAA35940).`
`CONFLICT`	`1159 1159`		`V -> C (in Ref. 2 and 5).`
`CONFLICT`	`1313 1313`		`E -> G (in Ref. 10).`
`CONFLICT`	`1356 1356`		`E -> R (in Ref. 10; CAA27381).`
`CONFLICT`	`1359 1360`		`RV -> GD (in Ref. 10; CAA27381).`
`CONFLICT`	`1575 1576`		`KL -> NV (in Ref. 13; AAA36345).`
`CONFLICT`	`1576 1577`		`LA -> RQ (in Ref. 10; CAA27381).`
`CONFLICT`	`1681 1681`		`Missing (in Ref. 2; CAA37068).`
`CONFLICT`	`1703 1704`		`EQ -> DE (in Ref. 9; CAA35940).`
`CONFLICT`	`1703 1704`		`EQ -> DR (in Ref. 2 and 12).`
`CONFLICT`	`1866 1866`		`D -> A (in Ref. 14; CAA29119).`
`HELIX`	`6 9`	`4`
`HELIX`	`22 25`	`4`
`STRAND`	`42 46`	`5`
`STRAND`	`63 65`	`3`
`STRAND`	`84 86`	`3`
`TURN`	`98 102`	`5`
`STRAND`	`103 109`	`7`
`STRAND`	`115 118`	`4`
`STRAND`	`121 125`	`5`
`TURN`	`132 135`	`4`
`HELIX`	`136 141`	`6`
`HELIX`	`155 166`	`12`
`STRAND`	`172 178`	`7`
`HELIX`	`180 182`	`3`
`HELIX`	`185 187`	`3`
`TURN`	`188 191`	`4`
`HELIX`	`192 198`	`7`
`STRAND`	`206 208`	`3`
`HELIX`	`215 222`	`8`
`HELIX`	`225 231`	`7`
`STRAND`	`237 240`	`4`
`STRAND`	`254 258`	`5`
`HELIX`	`285 290`	`6`
`HELIX`	`296 300`	`5`
`STRAND`	`307 310`	`4`
`HELIX`	`311 313`	`3`
`HELIX`	`325 335`	`11`
`HELIX`	`337 340`	`4`
`STRAND`	`343 345`	`3`
`TURN`	`347 350`	`4`
`HELIX`	`353 356`	`4`
`TURN`	`357 361`	`5`
`HELIX`	`380 384`	`5`
`TURN`	`385 388`	`4`
`HELIX`	`392 400`	`9`
`STRAND`	`406 409`	`4`
`HELIX`	`417 425`	`9`
`TURN`	`431 434`	`4`
`HELIX`	`435 446`	`12`
`STRAND`	`456 460`	`5`
`STRAND`	`469 471`	`3`
`HELIX`	`473 481`	`9`
`TURN`	`482 487`	`6`
`HELIX`	`488 499`	`12`
`HELIX`	`501 505`	`5`
`HELIX`	`513 517`	`5`
`HELIX`	`519 522`	`4`
`TURN`	`530 536`	`7`
`TURN`	`548 552`	`5`
`HELIX`	`553 556`	`4`
`STRAND`	`574 581`	`8`
`STRAND`	`584 586`	`3`
`HELIX`	`604 607`	`4`
`HELIX`	`608 610`	`3`
`TURN`	`622 624`	`3`
`STRAND`	`629 631`	`3`
`STRAND`	`633 637`	`5`
`STRAND`	`639 641`	`3`
`HELIX`	`647 654`	`8`
`TURN`	`655 658`	`4`
`TURN`	`661 663`	`3`
`STRAND`	`664 666`	`3`
`STRAND`	`669 673`	`5`
`STRAND`	`675 679`	`5`
`STRAND`	`681 683`	`3`
`HELIX`	`686 696`	`11`
`HELIX`	`698 703`	`6`
`HELIX`	`704 706`	`3`
`TURN`	`715 717`	`3`
`HELIX`	`718 722`	`5`
`STRAND`	`723 726`	`4`
`TURN`	`736 740`	`5`
`HELIX`	`741 745`	`5`
`HELIX`	`769 777`	`9`
`STRAND`	`780 785`	`6`
`HELIX`	`786 822`	`37`

Sequence information

Length: 1935 AA [This is the length of the unprocessed precursor]

Molecular weight: 223097 Da [This is the MW of the unprocessed precursor]

CRC64: C58B22F914215718 [This is a checksum on the sequence]

        10         20         30         40         50         60 
MGDSEMAVFG AAAPYLRKSE KERLEAQTRP FDLKKDVFVP DDKQEFVKAK IVSREGGKVT 

        70         80         90        100        110        120 
AETEYGKTVT VKEDQVMQQN PPKFDKIEDM AMLTFLHEPA VLYNLKDRYG SWMIYTYSGL 

       130        140        150        160        170        180 
FCVTVNPYKW LPVYTPEVVA AYRGKKRSEA PPHIFSISDN AYQYMLTDRE NQSILITGES 

       190        200        210        220        230        240 
GAGKTVNTKR VIQYFAVIAA IGDRSKKDQS PGKGTLEDQI IQANPALEAF GNAKTVRNDN 

       250        260        270        280        290        300 
SSRFGKFIRI HFGATGKLAS ADIETYLLEK SRVIFQLKAE RDYHIFYQIL SNKKPELLDM 

       310        320        330        340        350        360 
LLITNNPYDY AFISQGETTV ASIDDAEELM ATDNAFDVLG FTSEEKNSMY KLTGAIMHFG 

       370        380        390        400        410        420 
NMKFKLKQRE EQAEPDGTEE ADKSAYLMGL NSADLLKGLC HPRVKVGNEY VTKGQNVQQV 

       430        440        450        460        470        480 
IYATGALAKA VYERMFNWMV TRINATLETK QPRQYFIGVL DIAGFEIFDF NSFEQLCINF 

       490        500        510        520        530        540 
TNEKLQQFFN HHMFVLEQEE YKKEGIEWTF IDFGMDLQAC IDLIEKPMGI MSILEEECMF 

       550        560        570        580        590        600 
PKATDMTFKA KLFDNHLGKS ANFQKPRNIK GKPEAHFSLI HYAGIVDYNI IGWLQKNKDP 

       610        620        630        640        650        660 
LNETVVGLYQ KSSLKLLSTL FANYAGADAP IEKGKGKAKK GSSFQTVSAL HRENLNKLMT 

       670        680        690        700        710        720 
NLRSTHPHFV RCIIPNETKS PGVMDNPLVM HQLRCNGVLE GIRICRKGFP NRILYGDFRQ 

       730        740        750        760        770        780 
RYRILNPAAI PEGQFIDSRK GAEKLLSSLD IDHNQYKFGH TKVFFKAGLL GLLEEMRDER 

       790        800        810        820        830        840 
LSRIITRIQA QSRGVLARME YKKLLERRDS LLVIQWNIRA FMGVKNWPWM KLYFKIKPLL 

       850        860        870        880        890        900 
KSAEREKEMA SMKEEFTRLK EALEKSEARR KELEEKMVSL LQEKNDLQLQ VQAEQDNLAD 

       910        920        930        940        950        960 
AEERCDQLIK NKIQLEAKVK EMNERLEDEE EMNAELTAKK RKLEDECSEL KRDIDDLELT 

       970        980        990       1000       1010       1020 
LAKVEKEKHA TENKVKNLTE EMAGLDEIIA KLTKEKKALQ EAHQQALDDL QAEEDKVNTL 

      1030       1040       1050       1060       1070       1080 
TKAKVKLEQQ VDDLEGSLEQ EKKVRMDLER AKRKLEGDLK LTQESIMDLE NDKQQLDERL 

      1090       1100       1110       1120       1130       1140 
KKKDFELNAL NARIEDEQAL GSQLQKKLKE LQARIEELEE ELEAERTARA KVEKLRSDLS 

      1150       1160       1170       1180       1190       1200 
RELEEISERL EEAGGATSVQ IEMNKKREAE FQKMRRDLEE ATLQHEATAA ALRKKHADSV 

      1210       1220       1230       1240       1250       1260 
AELGEQIDNL QRVKQKLEKE KSEFKLELDD VTSNMEQIIK AKANLEKMCR TLEDQMNEHR 

      1270       1280       1290       1300       1310       1320 
SKAEETQRSV NDLTSQRAKL QTENGELSRQ LDEKEALISQ LTRGKLTYTQ QLEDLKRQLE 

      1330       1340       1350       1360       1370       1380 
EEVKAKNALA HALQSARHDC DLLREQYEEE TEAKAELQRV LSKANSEVAQ WRTKYETDAI 

      1390       1400       1410       1420       1430       1440 
QRTEELEEAK KKLAQRLQEA EEAVEAVNAK CSSLEKTKHR LQNEIEDLMV DVERSNAAAA 

      1450       1460       1470       1480       1490       1500 
ALDKKQRNFD KILAEWKQKY EESQSELESS QKEARSLSTE LFKLKNAYEE SLEHLETFKR 

      1510       1520       1530       1540       1550       1560 
ENKNLQEEIS DLTEQLGSSG KTIHELEKVR KQLEAEKMEL QSALEEAEAS LEHEEGKILR 

      1570       1580       1590       1600       1610       1620 
AQLEFNQIKA EIERKLAEKD EEMEQAKRNH LRVVDSLQTS LDAETRSRNE ALRVKKKMEG 

      1630       1640       1650       1660       1670       1680 
DLNEMEIQLS HANRMAAEAQ KQVKSLQSLL KDTQIQLDDA VRANDDLKEN IAIVERRNNL 

      1690       1700       1710       1720       1730       1740 
LQAELEELRA VVEQTERSRK LAEQELIETS ERVQLLHSQN TSLINQKKKM DADLSQLQTE 

      1750       1760       1770       1780       1790       1800 
VEEAVQECRN AEEKAKKAIT DAAMMAEELK KEQDTSAHLE RMKKNMEQTI KDLQHRLDEA 

      1810       1820       1830       1840       1850       1860 
EQIALKGGKK QLQKLEARVR ELENELEAEQ KRNAESVKGM RKSERRIKEL TYQTEEDRKN 

      1870       1880       1890       1900       1910       1920 
LLRLQDLVDK LQLKVKAYKR QAEEAEEQAN TNLSKFRKVQ HELDEAEERA DIAESQVNKL 

      1930 
RAKSRDIGTK GLNEE

P12883 in FASTA format

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	BLAST submission on ExPASy/SIB or at NCBI (USA)		Sequence analysis tools: ProtParam, ProtScale, Compute pI/Mw, PeptideMass, PeptideCutter, Dotlet (Java)
	ScanProsite, MotifScan		Submit a homology modeling request to SWISS-MODEL
	NPSA Sequence analysis tools