Myosin-7

Details

Name
Myosin-7
Synonyms
  • MyHC-beta
  • MyHC-slow
  • MYHCB
  • Myosin heavy chain 7
  • Myosin heavy chain slow isoform
  • Myosin heavy chain, cardiac muscle beta isoform
Gene Name
MYH7
Organism
Humans
Amino acid sequence
>lcl|BSEQ0020750|Myosin-7
MGDSEMAVFGAAAPYLRKSEKERLEAQTRPFDLKKDVFVPDDKQEFVKAKIVSREGGKVT
AETEYGKTVTVKEDQVMQQNPPKFDKIEDMAMLTFLHEPAVLYNLKDRYGSWMIYTYSGL
FCVTVNPYKWLPVYTPEVVAAYRGKKRSEAPPHIFSISDNAYQYMLTDRENQSILITGES
GAGKTVNTKRVIQYFAVIAAIGDRSKKDQSPGKGTLEDQIIQANPALEAFGNAKTVRNDN
SSRFGKFIRIHFGATGKLASADIETYLLEKSRVIFQLKAERDYHIFYQILSNKKPELLDM
LLITNNPYDYAFISQGETTVASIDDAEELMATDNAFDVLGFTSEEKNSMYKLTGAIMHFG
NMKFKLKQREEQAEPDGTEEADKSAYLMGLNSADLLKGLCHPRVKVGNEYVTKGQNVQQV
IYATGALAKAVYERMFNWMVTRINATLETKQPRQYFIGVLDIAGFEIFDFNSFEQLCINF
TNEKLQQFFNHHMFVLEQEEYKKEGIEWTFIDFGMDLQACIDLIEKPMGIMSILEEECMF
PKATDMTFKAKLFDNHLGKSANFQKPRNIKGKPEAHFSLIHYAGIVDYNIIGWLQKNKDP
LNETVVGLYQKSSLKLLSTLFANYAGADAPIEKGKGKAKKGSSFQTVSALHRENLNKLMT
NLRSTHPHFVRCIIPNETKSPGVMDNPLVMHQLRCNGVLEGIRICRKGFPNRILYGDFRQ
RYRILNPAAIPEGQFIDSRKGAEKLLSSLDIDHNQYKFGHTKVFFKAGLLGLLEEMRDER
LSRIITRIQAQSRGVLARMEYKKLLERRDSLLVIQWNIRAFMGVKNWPWMKLYFKIKPLL
KSAEREKEMASMKEEFTRLKEALEKSEARRKELEEKMVSLLQEKNDLQLQVQAEQDNLAD
AEERCDQLIKNKIQLEAKVKEMNERLEDEEEMNAELTAKKRKLEDECSELKRDIDDLELT
LAKVEKEKHATENKVKNLTEEMAGLDEIIAKLTKEKKALQEAHQQALDDLQAEEDKVNTL
TKAKVKLEQQVDDLEGSLEQEKKVRMDLERAKRKLEGDLKLTQESIMDLENDKQQLDERL
KKKDFELNALNARIEDEQALGSQLQKKLKELQARIEELEEELEAERTARAKVEKLRSDLS
RELEEISERLEEAGGATSVQIEMNKKREAEFQKMRRDLEEATLQHEATAAALRKKHADSV
AELGEQIDNLQRVKQKLEKEKSEFKLELDDVTSNMEQIIKAKANLEKMCRTLEDQMNEHR
SKAEETQRSVNDLTSQRAKLQTENGELSRQLDEKEALISQLTRGKLTYTQQLEDLKRQLE
EEVKAKNALAHALQSARHDCDLLREQYEEETEAKAELQRVLSKANSEVAQWRTKYETDAI
QRTEELEEAKKKLAQRLQEAEEAVEAVNAKCSSLEKTKHRLQNEIEDLMVDVERSNAAAA
ALDKKQRNFDKILAEWKQKYEESQSELESSQKEARSLSTELFKLKNAYEESLEHLETFKR
ENKNLQEEISDLTEQLGSSGKTIHELEKVRKQLEAEKMELQSALEEAEASLEHEEGKILR
AQLEFNQIKAEIERKLAEKDEEMEQAKRNHLRVVDSLQTSLDAETRSRNEALRVKKKMEG
DLNEMEIQLSHANRMAAEAQKQVKSLQSLLKDTQIQLDDAVRANDDLKENIAIVERRNNL
LQAELEELRAVVEQTERSRKLAEQELIETSERVQLLHSQNTSLINQKKKMDADLSQLQTE
VEEAVQECRNAEEKAKKAITDAAMMAEELKKEQDTSAHLERMKKNMEQTIKDLQHRLDEA
EQIALKGGKKQLQKLEARVRELENELEAEQKRNAESVKGMRKSERRIKELTYQTEEDRKN
LLRLQDLVDKLQLKVKAYKRQAEEAEEQANTNLSKFRKVQHELDEAEERADIAESQVNKL
RAKSRDIGTKGLNEE
Number of residues
1935
Molecular Weight
223095.5
Theoretical pI
5.54
GO Classification
Functions
actin-dependent ATPase activity / ATP binding / ATPase activity / microfilament motor activity
Processes
adult heart development / ATP metabolic process / cardiac muscle contraction / muscle contraction / muscle filament sliding / regulation of heart rate / regulation of slow-twitch skeletal muscle fiber contraction / regulation of the force of heart contraction / regulation of the force of skeletal muscle contraction / response to reactive oxygen species / skeletal muscle contraction / striated muscle contraction / transition between fast and slow fiber / ventricular cardiac muscle tissue morphogenesis
Components
muscle myosin complex / myosin complex / myosin filament / sarcomere / stress fiber / Z disc
General Function
Microfilament motor activity
Specific Function
Muscle contraction.
Pfam Domain Function
Transmembrane Regions
Not Available
Cellular Location
Cytoplasm
Gene sequence
>lcl|BSEQ0020751|Myosin-7 (MYH7)
ATGGGAGATTCGGAGATGGCAGTCTTTGGGGCTGCCGCCCCCTACCTGCGCAAGTCAGAG
AAGGAGCGGCTAGAAGCGCAGACCAGGCCTTTTGACCTCAAGAAGGATGTCTTCGTGCCT
GATGACAAACAGGAGTTTGTCAAGGCCAAGATCGTGTCTCGAGAGGGTGGCAAAGTCACT
GCCGAGACCGAGTATGGCAAGACAGTGACCGTGAAGGAGGACCAGGTGATGCAGCAGAAC
CCACCCAAGTTCGACAAAATCGAGGACATGGCCATGCTGACCTTCCTGCATGAGCCCGCG
GTGCTCTACAACCTCAAGGATCGCTACGGCTCCTGGATGATCTACACCTACTCGGGCCTC
TTCTGTGTCACCGTCAACCCTTACAAGTGGCTGCCGGTGTACACTCCTGAGGTGGTGGCT
GCCTACCGGGGCAAGAAGAGGAGCGAGGCCCCGCCCCACATCTTCTCCATCTCCGACAAC
GCCTATCAGTACATGCTGACAGACAGAGAAAACCAGTCCATCCTGATCACCGGAGAATCC
GGAGCAGGGAAGACAGTCAACACCAAGAGGGTCATCCAGTACTTTGCTGTTATTGCAGCC
ATTGGGGACCGCAGCAAGAAGGACCAGAGCCCGGGCAAGGGCACCCTGGAGGACCAGATC
ATCCAGGCCAACCCTGCTCTGGAGGCCTTTGGCAATGCCAAGACCGTCCGGAACGACAAC
TCCTCCCGCTTCGGGAAATTCATTCGAATTCATTTTGGGGCAACAGGAAAGTTGGCATCT
GCAGACATAGAGACCTATCTTCTGGAAAAATCCAGAGTTATTTTCCAGCTGAAAGCAGAG
AGAGATTATCACATTTTCTACCAAATCCTGTCTAACAAAAAGCCTGAGCTGCTGGACATG
CTGCTGATCACCAACAACCCCTACGATTATGCATTCATCTCCCAAGGAGAGACCACCGTG
GCCTCCATTGATGACGCTGAGGAGCTCATGGCCACTGATAACGCTTTTGATGTGCTGGGC
TTCACTTCAGAGGAGAAAAACTCCATGTATAAGCTGACAGGCGCCATCATGCACTTTGGA
AACATGAAGTTCAAGCTGAAGCAGCGGGAGGAGCAGGCGGAGCCAGACGGCACTGAAGAG
GCTGACAAGTCTGCCTACCTCATGGGGCTGAACTCAGCCGACCTGCTCAAGGGGCTGTGC
CACCCTCGGGTGAAAGTGGGCAATGAGTACGTCACCAAGGGGCAGAATGTCCAGCAGGTG
ATATATGCCACTGGGGCACTGGCCAAGGCAGTGTATGAGAGGATGTTCAACTGGATGGTG
ACGCGCATCAATGCCACCCTGGAGACCAAGCAGCCACGCCAGTACTTCATAGGAGTCCTG
GACATCGCTGGCTTCGAGATCTTCGATTTCAACAGCTTTGAGCAGCTCTGCATCAACTTC
ACCAACGAGAAGCTGCAGCAGTTCTTCAACCACCACATGTTTGTGCTGGAGCAGGAGGAG
TACAAGAAGGAGGGCATCGAGTGGACATTCATTGACTTTGGCATGGACCTGCAGGCCTGC
ATTGACCTCATCGAGAAGCCCATGGGCATCATGTCCATCCTGGAAGAGGAGTGCATGTTC
CCCAAGGCCACCGACATGACCTTCAAGGCCAAGCTGTTTGACAACCACCTGGGCAAATCC
GCCAACTTCCAGAAGCCACGCAATATCAAGGGGAAGCCTGAAGCCCACTTCTCCCTGATC
CACTATGCCGGCATCGTGGACTACAACATCATTGGCTGGCTGCAGAAGAACAAGGATCCT
CTCAATGAGACTGTCGTGGGCTTGTATCAGAAGTCTTCCCTCAAGCTGCTCAGCACCCTG
TTTGCCAACTATGCTGGGGCTGATGCGCCTATTGAGAAGGGCAAAGGCAAGGCCAAGAAA
GGCTCGTCCTTTCAGACTGTGTCAGCTCTGCACAGGGAAAATCTGAACAAGCTGATGACC
AACTTGCGCTCCACCCATCCCCACTTTGTACGTTGTATCATCCCTAATGAGACAAAGTCT
CCAGGGGTGATGGACAACCCCCTGGTCATGCACCAGCTGCGCTGCAATGGTGTGCTGGAG
GGCATCCGCATCTGCAGGAAAGGCTTCCCCAACCGCATCCTCTACGGGGACTTCCGGCAG
AGGTATCGCATCCTGAACCCAGCGGCCATCCCTGAGGGACAGTTCATTGATAGCAGGAAG
GGGGCAGAGAAGCTGCTCAGCTCCCTGGACATTGATCACAACCAGTACAAGTTTGGCCAC
ACCAAGGTGTTCTTCAAGGCCGGGCTGCTGGGGCTGCTGGAGGAAATGAGGGACGAGAGG
CTGAGCCGCATCATCACGCGTATCCAGGCCCAGTCCCGAGGTGTGCTCGCCAGAATGGAG
TACAAAAAGCTGCTGGAACGTAGAGACTCCCTGCTGGTAATCCAGTGGAACATTCGGGCC
TTCATGGGGGTCAAGAATTGGCCCTGGATGAAGCTCTACTTCAAGATCAAGCCGCTGCTG
AAGAGTGCAGAAAGAGAGAAGGAGATGGCCTCCATGAAGGAGGAGTTCACACGCCTCAAA
GAGGCGCTAGAGAAGTCCGAGGCTCGCCGCAAGGAGCTGGAGGAGAAGATGGTGTCCCTG
CTGCAGGAGAAGAATGACCTGCAGCTCCAAGTGCAGGCGGAACAAGACAACCTGGCAGAT
GCTGAGGAGCGCTGTGATCAGCTGATCAAAAACAAGATTCAGCTGGAGGCCAAGGTGAAG
GAGATGAACGAGAGGCTGGAGGATGAGGAGGAGATGAATGCTGAGCTCACTGCCAAGAAG
CGCAAGCTGGAAGATGAGTGCTCAGAGCTCAAAAGGGACATCGATGATCTGGAGCTGACA
CTGGCCAAAGTGGAGAAGGAGAAACACGCAACAGAGAACAAGGTGAAAAACCTGACAGAG
GAGATGGCTGGGCTGGATGAGATCATTGCCAAGCTGACCAAGGAGAAGAAAGCTCTGCAA
GAGGCCCACCAACAGGCTCTGGATGACCTTCAGGCCGAGGAGGACAAGGTCAACACCCTG
ACTAAGGCCAAAGTCAAGCTGGAGCAGCAAGTGGATGATCTGGAAGGATCCCTGGAGCAA
GAGAAGAAGGTGCGCATGGACCTGGAGCGAGCGAAGCGGAAGCTGGAGGGCGACCTGAAG
CTGACCCAGGAGAGCATCATGGACCTGGAGAATGACAAGCAGCAGCTGGATGAGCGGCTG
AAAAAAAAAGACTTTGAGCTGAATGCTCTCAACGCAAGGATTGAGGATGAACAGGCCCTC
GGCAGCCAGCTGCAGAAGAAGCTCAAGGAGCTTCAGGCACGCATCGAGGAGCTGGAGGAG
GAGCTGGAGGCCGAGCGCACCGCCAGGGCTAAGGTGGAGAAGCTGCGCTCAGACCTGTCT
CGGGAGCTGGAGGAGATCAGCGAGCGGCTGGAAGAGGCCGGCGGGGCCACGTCCGTGCAG
ATCGAGATGAACAAGAAGCGCGAGGCCGAGTTCCAGAAGATGCGGCGGGACCTGGAGGAG
GCCACGCTGCAGCACGAGGCCACTGCCGCGGCCCTGCGCAAGAAGCACGCCGACAGCGTG
GCCGAGCTGGGCGAGCAGATCGACAACCTGCAGCGGGTGAAGCAGAAGCTGGAGAAGGAG
AAGAGCGAGTTCAAGCTGGAGCTGGATGACGTCACCTCCAACATGGAGCAGATCATCAAG
GCCAAGGCTAACCTGGAGAAGATGTGCCGGACCTTGGAAGACCAGATGAATGAGCACCGG
AGCAAGGCGGAGGAGACCCAGCGTTCTGTCAACGACCTCACCAGCCAGCGGGCCAAGTTG
CAAACCGAGAATGGTGAGCTGTCCCGGCAGCTGGATGAGAAGGAGGCACTGATCTCCCAG
CTGACCCGAGGCAAGCTCACCTACACCCAGCAGCTGGAGGACCTCAAGAGGCAGCTGGAG
GAGGAGGTTAAGGCGAAGAACGCCCTGGCCCACGCACTGCAGTCGGCCCGGCATGACTGC
GACCTGCTGCGGGAGCAGTACGAGGAGGAGACGGAGGCCAAGGCCGAGCTGCAGCGCGTC
CTTTCCAAGGCCAACTCGGAGGTGGCCCAGTGGAGGACCAAGTATGAGACGGACGCCATT
CAGCGGACTGAGGAGCTCGAGGAGGCCAAGAAGAAGCTGGCCCAGCGGCTGCAGGAAGCT
GAGGAGGCCGTGGAGGCTGTTAATGCCAAGTGCTCCTCGCTGGAGAAGACCAAGCACCGG
CTACAGAATGAGATCGAGGACTTGATGGTGGACGTAGAGCGCTCCAATGCTGCTGCTGCA
GCCCTGGACAAGAAGCAGAGGAACTTCGACAAGATCCTGGCCGAGTGGAAGCAGAAGTAT
GAGGAGTCGCAGTCGGAGCTGGAGTCCTCGCAGAAGGAGGCTCGCTCCCTCAGCACAGAG
CTCTTCAAACTCAAGAACGCCTATGAGGAGTCCCTGGAACATCTGGAGACCTTCAAGCGG
GAGAACAAAAACCTGCAGGAGGAGATCTCCGACTTGACTGAGCAGTTGGGTTCCAGCGGA
AAGACTATCCATGAGCTGGAGAAGGTCCGAAAGCAGCTGGAGGCCGAGAAGATGGAGCTG
CAGTCAGCCCTGGAGGAGGCCGAGGCCTCCCTGGAGCACGAGGAGGGCAAGATCCTCCGG
GCCCAGCTGGAGTTCAACCAGATCAAGGCAGAGATCGAGCGGAAGCTGGCAGAGAAGGAC
GAGGAGATGGAACAGGCCAAGCGCAACCACCTGCGGGTGGTGGACTCGCTGCAGACCTCC
CTGGACGCAGAGACACGCAGCCGCAACGAGGCCCTGAGGGTGAAGAAGAAGATGGAAGGA
GACCTCAATGAGATGGAGATCCAGCTCAGCCACGCCAACCGCATGGCCGCCGAGGCCCAG
AAGCAAGTCAAGAGCCTCCAGAGCTTGTTGAAGGACACCCAGATTCAGCTGGACGATGCA
GTCCGTGCCAACGACGACCTGAAGGAGAACATCGCCATCGTGGAGCGGCGCAACAACCTG
CTGCAGGCTGAGCTGGAGGAGTTGCGTGCCGTGGTGGAGCAGACAGAGCGGTCCCGGAAG
CTGGCGGAGCAGGAGCTGATTGAGACTAGTGAGCGGGTGCAGCTGCTGCATTCCCAGAAC
ACCAGCCTCATCAACCAGAAGAAGAAGATGGATGCTGACCTGTCCCAGCTCCAGACTGAA
GTGGAGGAGGCAGTGCAGGAGTGCAGGAATGCTGAGGAGAAGGCCAAGAAGGCCATCACG
GATGCCGCCATGATGGCAGAGGAGCTGAAGAAGGAGCAGGACACCAGCGCCCACCTGGAG
CGCATGAAGAAGAACATGGAACAGACCATTAAGGACCTGCAGCACCGGCTGGACGAAGCC
GAGCAGATCGCCCTCAAGGGCGGCAAGAAGCAGCTGCAGAAGCTGGAAGCGCGGGTGCGG
GAGCTGGAGAATGAGCTGGAGGCCGAGCAGAAGCGCAACGCAGAGTCGGTGAAGGGCATG
AGGAAGAGCGAGCGGCGCATCAAGGAGCTCACCTACCAGACGGAGGAGGACAGGAAAAAC
CTGCTGCGGCTGCAGGACCTGGTAGACAAGCTGCAGCTAAAGGTCAAGGCCTACAAGCGC
CAGGCCGAGGAGGCGGAGGAGCAAGCCAACACCAACCTGTCCAAGTTCCGCAAGGTGCAG
CACGAGCTGGATGAGGCAGAGGAGCGGGCGGACATCGCCGAGTCCCAGGTCAACAAGCTG
CGGGCCAAGAGCCGTGACATTGGCACGAAGGGCTTGAATGAGGAGTAG
Chromosome Location
14
Locus
14q12
External Identifiers
ResourceLink
UniProtKB IDP12883
UniProtKB Entry NameMYH7_HUMAN
GenBank Protein ID179510
GenBank Gene IDM58018
HGNC IDHGNC:7577
General References
  1. Jaenicke T, Diederich KW, Haas W, Schleich J, Lichter P, Pfordt M, Bach A, Vosberg HP: The complete sequence of the human beta-myosin heavy chain gene and a comparative analysis of its product. Genomics. 1990 Oct;8(2):194-206. [Article]
  2. Liew CC, Sole MJ, Yamauchi-Takihara K, Kellam B, Anderson DH, Lin LP, Liew JC: Complete sequence and organization of the human cardiac beta-myosin heavy chain gene. Nucleic Acids Res. 1990 Jun 25;18(12):3647-51. [Article]
  3. Wendel B, Reinhard R, Wachtendorf U, Zacharzowsky UB, Osterziel KJ, Schulte HD, Haase H, Hoehe MR, Morano I: The human beta-myosin heavy chain gene: sequence diversity and functional characteristics of the protein. J Cell Biochem. 2000 Sep 14;79(4):566-75. [Article]
  4. Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, Klein SL, Old S, Rasooly R, Good P, Guyer M, Peck AM, Derge JG, Lipman D, Collins FS, Jang W, Sherry S, Feolo M, Misquitta L, Lee E, Rotmistrovsky K, Greenhut SF, Schaefer CF, Buetow K, Bonner TI, Haussler D, Kent J, Kiekhaus M, Furey T, Brent M, Prange C, Schreiber K, Shapiro N, Bhat NK, Hopkins RF, Hsie F, Driscoll T, Soares MB, Casavant TL, Scheetz TE, Brown-stein MJ, Usdin TB, Toshiyuki S, Carninci P, Piao Y, Dudekula DB, Ko MS, Kawakami K, Suzuki Y, Sugano S, Gruber CE, Smith MR, Simmons B, Moore T, Waterman R, Johnson SL, Ruan Y, Wei CL, Mathavan S, Gunaratne PH, Wu J, Garcia AM, Hulyk SW, Fuh E, Yuan Y, Sneed A, Kowis C, Hodgson A, Muzny DM, McPherson J, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madari A, Young AC, Wetherby KD, Granite SJ, Kwong PN, Brinkley CP, Pearson RL, Bouffard GG, Blakesly RW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Griffith M, Griffith OL, Krzywinski MI, Liao N, Morin R, Palmquist D, Petrescu AS, Skalska U, Smailus DE, Stott JM, Schnerch A, Schein JE, Jones SJ, Holt RA, Baross A, Marra MA, Clifton S, Makowski KA, Bosak S, Malek J: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. 2004 Oct;14(10B):2121-7. [Article]
  5. Yamauchi-Takihara K, Sole MJ, Liew J, Ing D, Liew CC: Characterization of human cardiac myosin heavy chain genes. Proc Natl Acad Sci U S A. 1989 May;86(10):3504-8. [Article]
  6. Cuda G, Fananapazir L, Zhu WS, Sellers JR, Epstein ND: Skeletal muscle expression and abnormal function of beta-myosin in hypertrophic cardiomyopathy. J Clin Invest. 1993 Jun;91(6):2861-5. [Article]
  7. Diederich KW, Eisele I, Ried T, Jaenicke T, Lichter P, Vosberg HP: Isolation and characterization of the complete human beta-myosin heavy chain gene. Hum Genet. 1989 Feb;81(3):214-20. [Article]
  8. Lichter P, Umeda PK, Levin JE, Vosberg HP: Partial characterization of the human beta-myosin heavy-chain gene which is expressed in heart and skeletal muscle. Eur J Biochem. 1986 Oct 15;160(2):419-26. [Article]
  9. Bober E, Buchberger-Seidl A, Braun T, Singh S, Goedde HW, Arnold HH: Identification of three developmentally controlled isoforms of human myosin heavy chains. Eur J Biochem. 1990 Apr 20;189(1):55-65. [Article]
  10. Saez L, Leinwand LA: Characterization of diverse forms of myosin heavy chain expressed in adult human skeletal muscle. Nucleic Acids Res. 1986 Apr 11;14(7):2951-69. [Article]
  11. Jandreski MA, Liew CC: Construction of a human ventricular cDNA library and characterization of a beta myosin heavy chain cDNA clone. Hum Genet. 1987 May;76(1):47-53. [Article]
  12. 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. 1988 Aug;82(2):524-31. [Article]
  13. Saez LJ, Gianola KM, McNally EM, Feghali R, Eddy R, Shows TB, Leinwand LA: Human cardiac myosin heavy chain genes and their linkage in the genome. Nucleic Acids Res. 1987 Jul 10;15(13):5443-59. [Article]
  14. Arai S, Matsuoka R, Hirayama K, Sakurai H, Tamura M, Ozawa T, Kimura M, Imamura S, Furutani Y, Joh-o K, et al.: Missense mutation of the beta-cardiac myosin heavy-chain gene in hypertrophic cardiomyopathy. Am J Med Genet. 1995 Sep 11;58(3):267-76. [Article]
  15. Arad M, Penas-Lado M, Monserrat L, Maron BJ, Sherrid M, Ho CY, Barr S, Karim A, Olson TM, Kamisago M, Seidman JG, Seidman CE: Gene mutations in apical hypertrophic cardiomyopathy. Circulation. 2005 Nov 1;112(18):2805-11. [Article]
  16. Dye DE, Azzarelli B, Goebel HH, Laing NG: Novel slow-skeletal myosin (MYH7) mutation in the original myosin storage myopathy kindred. Neuromuscul Disord. 2006 Jun;16(6):357-60. Epub 2006 May 8. [Article]
  17. Klaassen S, Probst S, Oechslin E, Gerull B, Krings G, Schuler P, Greutmann M, Hurlimann D, Yegitbasi M, Pons L, Gramlich M, Drenckhahn JD, Heuser A, Berger F, Jenni R, Thierfelder L: Mutations in sarcomere protein genes in left ventricular noncompaction. Circulation. 2008 Jun 3;117(22):2893-901. doi: 10.1161/CIRCULATIONAHA.107.746164. Epub 2008 May 27. [Article]
  18. Frazier A, Judge DP, Schulman SP, Johnson N, Holmes KW, Murphy AM: Familial hypertrophic cardiomyopathy associated with cardiac beta-myosin heavy chain and troponin I mutations. Pediatr Cardiol. 2008 Jul;29(4):846-50. doi: 10.1007/s00246-007-9177-9. Epub 2008 Jan 4. [Article]
  19. Gorbea C, Pratt G, Ustrell V, Bell R, Sahasrabudhe S, Hughes RE, Rechsteiner M: A protein interaction network for Ecm29 links the 26 S proteasome to molecular motors and endosomal components. J Biol Chem. 2010 Oct 8;285(41):31616-33. doi: 10.1074/jbc.M110.154120. Epub 2010 Aug 3. [Article]
  20. Postma AV, van Engelen K, van de Meerakker J, Rahman T, Probst S, Baars MJ, Bauer U, Pickardt T, Sperling SR, Berger F, Moorman AF, Mulder BJ, Thierfelder L, Keavney B, Goodship J, Klaassen S: Mutations in the sarcomere gene MYH7 in Ebstein anomaly. Circ Cardiovasc Genet. 2011 Feb;4(1):43-50. doi: 10.1161/CIRCGENETICS.110.957985. Epub 2010 Dec 2. [Article]
  21. Yuceyar N, Ayhan O, Karasoy H, Tolun A: Homozygous MYH7 R1820W mutation results in recessive myosin storage myopathy: scapuloperoneal and respiratory weakness with dilated cardiomyopathy. Neuromuscul Disord. 2015 Apr;25(4):340-4. doi: 10.1016/j.nmd.2015.01.007. Epub 2015 Jan 26. [Article]
  22. Geisterfer-Lowrance AA, Kass S, Tanigawa G, Vosberg HP, McKenna W, Seidman CE, Seidman JG: A molecular basis for familial hypertrophic cardiomyopathy: a beta cardiac myosin heavy chain gene missense mutation. Cell. 1990 Sep 7;62(5):999-1006. [Article]
  23. 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. 1992 Oct 15;188(1):379-87. [Article]
  24. Epstein ND, Cohn GM, 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. 1992 Aug;86(2):345-52. [Article]
  25. Watkins H, Rosenzweig A, Hwang DS, Levi T, McKenna W, Seidman CE, Seidman JG: Characteristics and prognostic implications of myosin missense mutations in familial hypertrophic cardiomyopathy. N Engl J Med. 1992 Apr 23;326(17):1108-14. [Article]
  26. Watkins H, Thierfelder L, Anan R, Jarcho J, Matsumori A, McKenna W, Seidman JG, Seidman CE: Independent origin of identical beta cardiac myosin heavy-chain mutations in hypertrophic cardiomyopathy. Am J Hum Genet. 1993 Dec;53(6):1180-5. [Article]
  27. 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. 1993 Jul 30;194(2):791-8. [Article]
  28. 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. 1993 Feb;69(2):136-41. [Article]
  29. Moolman JC, Brink PA, Corfield VA: 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. 1993 Oct;2(10):1731-2. [Article]
  30. Dausse E, Komajda M, Fetler L, Dubourg O, Dufour C, Carrier L, Wisnewsky C, Bercovici J, Hengstenberg C, al-Mahdawi S, et al.: Familial hypertrophic cardiomyopathy. Microsatellite haplotyping and identification of a hot spot for mutations in the beta-myosin heavy chain gene. J Clin Invest. 1993 Dec;92(6):2807-13. [Article]
  31. Fananapazir L, Dalakas MC, Cyran F, Cohn G, Epstein ND: Missense mutations in the beta-myosin heavy-chain gene cause central core disease in hypertrophic cardiomyopathy. Proc Natl Acad Sci U S A. 1993 May 1;90(9):3993-7. [Article]
  32. Consevage MW, Salada GC, Baylen BG, Ladda RL, Rogan PK: A new missense mutation, Arg719Gln, in the beta-cardiac heavy chain myosin gene of patients with familial hypertrophic cardiomyopathy. Hum Mol Genet. 1994 Jun;3(6):1025-6. [Article]
  33. Greve G, Bachinski L, Friedman DL, Czernuzewicz G, Anan R, Towbin J, Seidman CE, Roberts R: Isolation of a de novo mutant myocardial beta MHC protein in a pedigree with hypertrophic cardiomyopathy. Hum Mol Genet. 1994 Nov;3(11):2073-5. [Article]
  34. Anan R, Greve G, Thierfelder L, Watkins H, McKenna WJ, Solomon S, Vecchio C, Shono H, Nakao S, Tanaka H, et al.: Prognostic implications of novel beta cardiac myosin heavy chain gene mutations that cause familial hypertrophic cardiomyopathy. J Clin Invest. 1994 Jan;93(1):280-5. [Article]
  35. Moolman JC, Brink PA, Corfield VA: Identification of a novel Ala797Thr mutation in exon 21 of the beta-myosin heavy chain gene in hypertrophic cardiomyopathy. Hum Mutat. 1995;6(2):197-8. [Article]
  36. Rayment I, Holden HM, Sellers JR, Fananapazir L, Epstein ND: 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. 1995 Apr 25;92(9):3864-8. [Article]
  37. Ko YL, Chen JJ, Tang TK, Cheng JJ, Lin SY, Liou YC, Kuan P, Wu CW, Lien WP, Liew CC: 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. 1996 May;97(5):585-90. [Article]
  38. Kuang SQ, Yu JD, Lu L, He LM, Gong LS, Chen SJ, 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. 1996 Sep;28(9):1879-83. [Article]
  39. 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. 1998 Dec;80(6):548-58. [Article]
  40. Jeschke B, Uhl K, Weist B, Schroder D, Meitinger T, Dohlemann C, Vosberg HP: A high risk phenotype of hypertrophic cardiomyopathy associated with a compound genotype of two mutated beta-myosin heavy chain genes. Hum Genet. 1998 Mar;102(3):299-304. [Article]
  41. Tesson F, Richard P, Charron P, Mathieu B, Cruaud C, Carrier L, Dubourg O, Lautie N, Desnos M, Millaire A, Isnard R, Hagege AA, Bouhour JB, 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. 1998;12(6):385-92. [Article]
  42. Jaaskelainen P, Soranta M, Miettinen R, Saarinen L, Pihlajamaki 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. 1998 Nov 15;32(6):1709-16. [Article]
  43. Moolman-Smook JC, De Lange WJ, Bruwer EC, Brink PA, Corfield VA: 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. 1999 Nov;65(5):1308-20. [Article]
  44. Andersen PS, Havndrup O, Bundgaard H, Larsen LA, Vuust J, Kjeldsen K, Christiansen M: Adult-onset familial hypertrophic cardiomyopathy caused by a novel mutation, R694C, in the MYH7 gene. Clin Genet. 1999 Sep;56(3):244-6. [Article]
  45. Bundgaard H, Havndrup O, Andersen PS, Larsen LA, Brandt NJ, 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. 1999 Apr;31(4):745-50. [Article]
  46. Sakthivel S, Joseph PK, Tharakan JM, Vosberg HP, 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. 2000 Mar;15(3):298-9. [Article]
  47. 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. 2000 Jun;15(6):584. [Article]
  48. Enjuto M, Francino A, Navarro-Lopez F, Viles D, Pare JC, Ballesta AM: Malignant hypertrophic cardiomyopathy caused by the Arg723Gly mutation in beta-myosin heavy chain gene. J Mol Cell Cardiol. 2000 Dec;32(12):2307-13. [Article]
  49. Kamisago M, Sharma SD, DePalma SR, Solomon S, Sharma P, McDonough B, Smoot L, Mullen MP, Woolf PK, Wigle ED, Seidman JG, Seidman CE: Mutations in sarcomere protein genes as a cause of dilated cardiomyopathy. N Engl J Med. 2000 Dec 7;343(23):1688-96. [Article]
  50. Havndrup O, Bundgaard H, Andersen PS, Larsen LA, 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. 2000 Dec;34(6):558-63. [Article]
  51. Davis JS, Hassanzadeh S, Winitsky S, Lin H, Satorius C, Vemuri R, Aletras AH, Wen H, Epstein ND: The overall pattern of cardiac contraction depends on a spatial gradient of myosin regulatory light chain phosphorylation. Cell. 2001 Nov 30;107(5):631-41. [Article]
  52. Blair E, Price SJ, Baty CJ, Ostman-Smith I, Watkins H: Mutations in cis can confound genotype-phenotype correlations in hypertrophic cardiomyopathy. J Med Genet. 2001 Jun;38(6):385-8. [Article]
  53. 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. 2001 Jan;33(1):141-8. [Article]
  54. 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. 2002 Oct 18;298(1):116-20. [Article]
  55. Ho CY, Sweitzer NK, McDonough B, Maron BJ, Casey SA, Seidman JG, Seidman CE, Solomon SD: Assessment of diastolic function with Doppler tissue imaging to predict genotype in preclinical hypertrophic cardiomyopathy. Circulation. 2002 Jun 25;105(25):2992-7. [Article]
  56. Blair E, Redwood C, de Jesus Oliveira M, Moolman-Smook JC, Brink P, Corfield VA, Ostman-Smith I, Watkins H: Mutations of the light meromyosin domain of the beta-myosin heavy chain rod in hypertrophic cardiomyopathy. Circ Res. 2002 Feb 22;90(3):263-9. [Article]
  57. Waldmuller S, Freund P, Mauch S, Toder R, Vosberg HP: Low-density DNA microarrays are versatile tools to screen for known mutations in hypertrophic cardiomyopathy. Hum Mutat. 2002 May;19(5):560-9. [Article]
  58. Tajsharghi H, Thornell LE, Lindberg C, Lindvall B, Henriksson KG, Oldfors A: Myosin storage myopathy associated with a heterozygous missense mutation in MYH7. Ann Neurol. 2003 Oct;54(4):494-500. [Article]
  59. 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. 2003 Sep 19;309(2):391-8. [Article]
  60. Havndrup O, Bundgaard H, Andersen PS, Allan Larsen L, 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. 2003 Feb;57(2):347-57. [Article]
  61. Richard P, Charron P, Carrier L, Ledeuil C, Cheav T, Pichereau C, Benaiche A, Isnard R, Dubourg O, Burban M, Gueffet JP, 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. 2003 May 6;107(17):2227-32. Epub 2003 Apr 21. [Article]
  62. 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. 2003 Oct;64(4):339-49. [Article]
  63. Mohiddin SA, Begley DA, McLam E, Cardoso JP, Winkler JB, Sellers JR, Fananapazir L: Utility of genetic screening in hypertrophic cardiomyopathy: prevalence and significance of novel and double (homozygous and heterozygous) beta-myosin mutations. Genet Test. 2003 Spring;7(1):21-7. [Article]
  64. Woo A, Rakowski H, Liew JC, Zhao MS, Liew CC, Parker TG, Zeller M, Wigle ED, Sole MJ: Mutations of the beta myosin heavy chain gene in hypertrophic cardiomyopathy: critical functional sites determine prognosis. Heart. 2003 Oct;89(10):1179-85. [Article]
  65. 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. 2003;44(1):103-9. [Article]
  66. Morner S, Richard P, Kazzam E, Hellman U, Hainque B, Schwartz K, Waldenstrom A: Identification of the genotypes causing hypertrophic cardiomyopathy in northern Sweden. J Mol Cell Cardiol. 2003 Jul;35(7):841-9. [Article]
  67. Meredith C, Herrmann R, Parry C, Liyanage K, Dye DE, Durling HJ, Duff RM, Beckman K, de Visser M, van der Graaff MM, Hedera P, Fink JK, Petty EM, Lamont P, Fabian V, Bridges L, Voit T, Mastaglia FL, Laing NG: Mutations in the slow skeletal muscle fiber myosin heavy chain gene (MYH7) cause laing early-onset distal myopathy (MPD1). Am J Hum Genet. 2004 Oct;75(4):703-8. Epub 2004 Aug 20. [Article]
  68. Van Driest SL, Jaeger MA, Ommen SR, Will ML, Gersh BJ, Tajik AJ, Ackerman MJ: Comprehensive analysis of the beta-myosin heavy chain gene in 389 unrelated patients with hypertrophic cardiomyopathy. J Am Coll Cardiol. 2004 Aug 4;44(3):602-10. [Article]
  69. Bohlega S, Abu-Amero SN, Wakil SM, Carroll P, Al-Amr R, Lach B, Al-Sayed Y, Cupler EJ, Meyer BF: Mutation of the slow myosin heavy chain rod domain underlies hyaline body myopathy. Neurology. 2004 May 11;62(9):1518-21. [Article]
  70. 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. 2005 Jan;351(1-2):209-16. [Article]
  71. 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. 2005 Apr;26(8):794-803. Epub 2005 Mar 15. [Article]
  72. Hougs L, Havndrup O, Bundgaard H, Kober L, Vuust J, Larsen LA, Christiansen M, Andersen PS: One third of Danish hypertrophic cardiomyopathy patients with MYH7 mutations have mutations [corrected] in MYH7 rod region. Eur J Hum Genet. 2005 Feb;13(2):161-5. [Article]
  73. Yu B, Sawyer NA, Caramins M, Yuan ZG, Saunderson RB, Pamphlett R, Richmond DR, Jeremy RW, Trent RJ: Denaturing high performance liquid chromatography: high throughput mutation screening in familial hypertrophic cardiomyopathy and SNP genotyping in motor neurone disease. J Clin Pathol. 2005 May;58(5):479-85. [Article]
  74. 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. 2005 Oct;42(10):e59. [Article]
  75. Perrot A, Schmidt-Traub H, Hoffmann B, Prager M, Bit-Avragim N, Rudenko RI, Usupbaeva DA, Kabaeva Z, Imanov B, Mirrakhimov MM, Dietz R, Wycisk A, Tendera M, Gessner R, Osterziel KJ: Prevalence of cardiac beta-myosin heavy chain gene mutations in patients with hypertrophic cardiomyopathy. J Mol Med (Berl). 2005 Jun;83(6):468-77. Epub 2005 Apr 22. [Article]
  76. Tanjore RR, Sikindlapuram AD, Calambur N, Thakkar B, Kerkar PG, Nallari P: Genotype-phenotype correlation of R870H mutation in hypertrophic cardiomyopathy. Clin Genet. 2006 May;69(5):434-6. [Article]
  77. Mora R, Merino JL, Peinado R, Olias F, Garcia-Guereta L, del Cerro MJ, Tarin MN, Molano J: [Hypertrophic cardiomyopathy: infrequent mutation of the cardiac beta-myosin heavy-chain gene]. Rev Esp Cardiol. 2006 Aug;59(8):846-9. [Article]
  78. Tajsharghi H, Oldfors A, Macleod DP, Swash M: Homozygous mutation in MYH7 in myosin storage myopathy and cardiomyopathy. Neurology. 2007 Mar 20;68(12):962. [Article]
  79. Darin N, Tajsharghi H, Ostman-Smith I, Gilljam T, Oldfors A: New skeletal myopathy and cardiomyopathy associated with a missense mutation in MYH7. Neurology. 2007 Jun 5;68(23):2041-2. [Article]
  80. Pegoraro E, Gavassini BF, 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. 2007 Apr;17(4):321-9. Epub 2007 Mar 2. [Article]
  81. Morita H, Rehm HL, Menesses A, McDonough B, Roberts AE, Kucherlapati R, Towbin JA, Seidman JG, Seidman CE: Shared genetic causes of cardiac hypertrophy in children and adults. N Engl J Med. 2008 May 1;358(18):1899-908. doi: 10.1056/NEJMoa075463. Epub 2008 Apr 9. [Article]
  82. Millat G, Bouvagnet P, Chevalier P, Sebbag L, Dulac A, Dauphin C, Jouk PS, Delrue MA, Thambo JB, Le Metayer P, Seronde MF, Faivre L, Eicher JC, Rousson R: Clinical and mutational spectrum in a cohort of 105 unrelated patients with dilated cardiomyopathy. Eur J Med Genet. 2011 Nov-Dec;54(6):e570-5. doi: 10.1016/j.ejmg.2011.07.005. Epub 2011 Aug 4. [Article]
  83. Lee DD, Veith RL, Dimmock DP, Samyn MM: Hypertrophic cardiomyopathy: a new mutation illustrates the need for family-centered care. Pediatr Cardiol. 2014 Dec;35(8):1474-7. doi: 10.1007/s00246-014-1002-7. Epub 2014 Sep 3. [Article]

Drug Relations

Drug Relations
DrugBank IDNameDrug groupPharmacological action?ActionsDetails
DB083784-[4-(2,5-DIOXO-PYRROLIDIN-1-YL)-PHENYLAMINO]-4-HYDROXY-BUTYRIC ACIDexperimentalunknownDetails
DB14921Mavacamtenapproved, investigationalyesinhibitory allosteric modulatorDetails