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Results for the Protein: P12883
83304912

MYH7_HUMAN RecName: Full=Myosin-7; AltName: Full=Myosin heavy chain 7; AltName: Full=Myosin heavy chain slow isoform; Short=MyHC-slow; AltName: Full=Myosin heavy chain, cardiac muscle beta isoform; Short=MyHC-beta

Known Diseases associated with this Protein:
  CARDIOMYOPATHY, DILATED 1S (CMD1S)
  CARDIOMYOPATHY, DILATED, 1S
  CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC 1 (CMH1)
  CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1
  CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1, INCLUDED;;
  CARDIOMYOPATHY, HYPERTROPHIC, MIDVENTRICULAR, DIGENIC
  LAING DISTAL MYOPATHY
  LEFT VENTRICULAR NONCOMPACTION 5
  LEFT VENTRICULAR NONCOMPACTION 5, INCLUD
  LEFT VENTRICULAR NONCOMPACTION 5, INCLUDED
  MYOPATHY, DISTAL, 1 (MPD1)
  MYOPATHY, MYOSIN STORAGE
  MYOPATHY, MYOSIN STORAGE (MYOMS)
  MYOPATHY, MYOSIN STORAGE, INCLUDED
  SCAPULOPERONEAL MYOPATHY MYH7-RELATED (SPMM)
  SCAPULOPERONEAL MYOPATHY, MYH7-RELATED, INCLUDED
229
10
42
1
196
Tips:
 The Domains on the Default View are decided by the Domain's E-Value.

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Default View:

COG5022 - COG5022
Myosin_N - pfam02736
MYSc_type_IX - cd01385
MYSc_type_VIII - cd01383
MYSc - smart00242
MYSc_type_II - cd01377
MYSc_type_XV - cd01387
MYSc_type_XI - cd01384
MYSc_type_XVIII - cd01386
MYSc_type_VI - cd01382
MYSc_type_III - cd01379
MYSc - cd00124
MYSc_type_VII - cd01381
MYSc_type_V - cd01380
MYSc_type_I - cd01378
Myosin_head - pfam00063
Motor_domain - cd01363
IQ - smart00015
Myosin_tail_1 - pfam01576


Swiss-Prot Protein: P12883
Identical to: NP_000248
   Default View:


















Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
MYSc_type_VIIIcd013831.8e-17580777
MYSc_type_IIcd0137781777
MYSc_type_XIcd013847.3e-20585781
MYSc_type_XVcd013871.5e-16185777
MYSccd0012486777
MYSc_type_Vcd013801.3e-21386777
MYSc_type_VIIcd013819.4e-22586777
MYSc_type_IIIcd013791.1e-7186800
MYSc_type_VIcd013823.9e-8486777
MYSc_type_XVIIIcd013862.5e-1586777
MYSc_type_Icd013784.4e-19087777
Motor_domaincd01363121675
COG5022COG50225.3e-293261612
Myosin_Npfam027364.5e-173475
Myosin_headpfam0006387766
Myosin_tail_1pfam0157610681926
MYScsmart0024280778
IQsmart000150.00012780802

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_067262Diseasep.ALA1263GLUCardiomyopathy, dilated 1S (CMD1S)
Swiss-ProtVAR_029433Diseasep.ALA430GLUCardiomyopathy, familial hypertrophic 1 (CMH1)
Swiss-ProtVAR_042801Diseasep.ALA742GLUCardiomyopathy, familial hypertrophic 1 (CMH1)
Swiss-ProtVAR_042813Diseasep.ALA901GLYCardiomyopathy, familial hypertrophic 1 (CMH1)
Swiss-ProtVAR_022370Diseasep.ALA1663PROMyopathy, distal, 1 (MPD1)
Swiss-ProtVAR_017753Polymorphismp.ALA1124SERN/A
Swiss-ProtVAR_019868Diseasep.ALA1379THRCardiomyopathy, familial hypertrophic 1 (CMH1)
Swiss-ProtVAR_042827Diseasep.ALA1454THRCardiomyopathy, familial hypertrophic 1 (CMH1)
Swiss-ProtVAR_019871Diseasep.ALA1777THRCardiomyopathy, familial hypertrophic 1 (CMH1)
Swiss-ProtVAR_042767Diseasep.ALA196THRCardiomyopathy, familial hypertrophic 1 (CMH1)
Swiss-ProtVAR_017746Diseasep.ALA223THRCardiomyopathy, dilated 1S (CMD1S)
Swiss-ProtVAR_019849Diseasep.ALA355THRCardiomyopathy, familial hypertrophic 1 (CMH1)
Swiss-ProtVAR_004591Diseasep.ALA797THRCardiomyopathy, familial hypertrophic 1 (CMH1)
Swiss-ProtVAR_004566Diseasep.ALA26VALCardiomyopathy, familial hypertrophic 1 (CMH1)
Swiss-ProtVAR_042777Diseasep.ALA385VALCardiomyopathy, familial hypertrophic 1 (CMH1)
Swiss-ProtVAR_019850Diseasep.ALA428VALCardiomyopathy, familial hypertrophic 1 (CMH1)
Swiss-ProtVAR_042794Diseasep.ALA550VALCardiomyopathy, dilated 1S (CMD1S)
Swiss-ProtVAR_017750Diseasep.ALA728VALCardiomyopathy, familial hypertrophic 1 (CMH1)
Swiss-ProtVAR_042829Polymorphismp.ARG1475CYSN/A
Swiss-ProtVAR_042833Diseasep.ARG1634CYSCardiomyopathy, dilated 1S (CMD1S)
Swiss-ProtVAR_004576Diseasep.ARG453CYSCardiomyopathy, familial hypertrophic 1 (CMH1)
Swiss-ProtVAR_042798Diseasep.ARG663CYSCardiomyopathy, familial hypertrophic 1 (CMH1)
Swiss-ProtVAR_019857Diseasep.ARG671CYSCardiomyopathy, familial hypertrophic 1 (CMH1)
Swiss-ProtVAR_020809Diseasep.ARG694CYSCardiomyopathy, familial hypertrophic 1 (CMH1)
Swiss-ProtVAR_004585Diseasep.ARG723CYSCardiomyopathy, familial hypertrophic 1 (CMH1)
Swiss-ProtVAR_045927Diseasep.ARG787CYSCardiomyopathy, familial hypertrophic 1 (CMH1)
Swiss-ProtVAR_039563Diseasep.ARG858CYSCardiomyopathy, familial hypertrophic 1 (CMH1)
Swiss-ProtVAR_020815Diseasep.ARG869CYSCardiomyopathy, familial hypertrophic 1 (CMH1)
Swiss-ProtVAR_020816Diseasep.ARG870CYSCardiomyopathy, familial hypertrophic 1 (CMH1)
Swiss-ProtVAR_004568Diseasep.ARG143GLNCardiomyopathy, familial hypertrophic 1 (CMH1)
Swiss-ProtVAR_004569Diseasep.ARG249GLNCardiomyopathy, familial hypertrophic 1 (CMH1)
Swiss-ProtVAR_004574Diseasep.ARG403GLNCardiomyopathy, familial hypertrophic 1 (CMH1)
Swiss-ProtVAR_017749Diseasep.ARG719GLNCardiomyopathy, familial hypertrophic 1 (CMH1)
Swiss-ProtVAR_042763Diseasep.ARG143GLYCardiomyopathy, familial hypertrophic 1 (CMH1)
Swiss-ProtVAR_020812Diseasep.ARG723GLYCardiomyopathy, familial hypertrophic 1 (CMH1)
Swiss-ProtVAR_019863Diseasep.ARG869GLYCardiomyopathy, familial hypertrophic 1 (CMH1)
Swiss-ProtVAR_019847Diseasep.ARG204HISCardiomyopathy, familial hypertrophic 1 (CMH1)
Swiss-ProtVAR_042788Diseasep.ARG453HISCardiomyopathy, familial hypertrophic 1 (CMH1)
Swiss-ProtVAR_019855Diseasep.ARG663HISCardiomyopathy, familial hypertrophic 1 (CMH1)
Swiss-ProtVAR_029437Diseasep.ARG694HISCardiomyopathy, familial hypertrophic 1 (CMH1)
Swiss-ProtVAR_019861Diseasep.ARG787HISCardiomyopathy, familial hypertrophic 1 (CMH1)
Swiss-ProtVAR_042809Diseasep.ARG858HISCardiomyopathy, familial hypertrophic 1 (CMH1)
Swiss-ProtVAR_042810Diseasep.ARG869HISCardiomyopathy, familial hypertrophic 1 (CMH1)
Swiss-ProtVAR_004592Diseasep.ARG870HISCardiomyopathy, familial hypertrophic 1 (CMH1)
Swiss-ProtVAR_004573Diseasep.ARG403LEUCardiomyopathy, familial hypertrophic 1 (CMH1)
Swiss-ProtVAR_020811Diseasep.ARG712LEUCardiomyopathy, familial hypertrophic 1 (CMH1)
Swiss-ProtVAR_022369Diseasep.ARG1500PROMyopathy, distal, 1 (MPD1)
Swiss-ProtVAR_042822Diseasep.ARG1193SERCardiomyopathy, dilated 1S (CMD1S)
Swiss-ProtVAR_019856Diseasep.ARG663SERCardiomyopathy, familial hypertrophic 1 (CMH1)
Swiss-ProtVAR_020800Diseasep.ARG190THRCardiomyopathy, familial hypertrophic 1 (CMH1)
Swiss-ProtVAR_019869Diseasep.ARG1382TRPCardiomyopathy, familial hypertrophic 1 (CMH1)
Swiss-ProtVAR_042825Diseasep.ARG1420TRPCardiomyopathy, familial hypertrophic 1 (CMH1)
Swiss-ProtVAR_029431Diseasep.ARG143TRPCardiomyopathy, familial hypertrophic 1 (CMH1)
Swiss-ProtVAR_042834Diseasep.ARG1712TRPCardiomyopathy, familial hypertrophic 1 (CMH1)
Swiss-ProtVAR_017754Diseasep.ARG1845TRPScapuloperoneal myopathy MYH7-related (SPMM)
Swiss-ProtVAR_004575Diseasep.ARG403TRPCardiomyopathy, familial hypertrophic 1 (CMH1)
Swiss-ProtVAR_004584Diseasep.ARG719TRPCardiomyopathy, familial hypertrophic 1 (CMH1)
Swiss-ProtVAR_042823Diseasep.ASN1327LYSCardiomyopathy, familial hypertrophic 1 (CMH1)
Swiss-ProtVAR_020799Diseasep.ASN187LYSCardiomyopathy, familial hypertrophic 1 (CMH1)
Swiss-ProtVAR_019848Diseasep.ASN232SERCardiomyopathy, familial hypertrophic 1 (CMH1)
Swiss-ProtVAR_019852Diseasep.ASN479SERCardiomyopathy, familial hypertrophic 1 (CMH1)
Swiss-ProtVAR_004580Diseasep.ASN602SERCardiomyopathy, familial hypertrophic 1 (CMH1)
Swiss-ProtVAR_020810Diseasep.ASN696SERCardiomyopathy, familial hypertrophic 1 (CMH1)
Swiss-ProtVAR_029430Polymorphismp.ASP3ALAN/A
Swiss-ProtVAR_029444Diseasep.ASP928ASNCardiomyopathy, familial hypertrophic 1 (CMH1)
Swiss-ProtVAR_017745Polymorphismp.ASP107GLUN/A
Swiss-ProtVAR_019860Diseasep.ASP778GLUCardiomyopathy, familial hypertrophic 1 (CMH1)
Swiss-ProtVAR_004590Diseasep.ASP778GLYCardiomyopathy, familial hypertrophic 1 (CMH1)
Swiss-ProtVAR_042814Diseasep.ASP906GLYCardiomyopathy, familial hypertrophic 1 (CMH1)
Swiss-ProtVAR_042818Diseasep.ASP953HISCardiomyopathy, familial hypertrophic 1 (CMH1)
Swiss-ProtVAR_004579Diseasep.ASP587VALCardiomyopathy, familial hypertrophic 1 (CMH1)
Swiss-ProtVAR_042804Diseasep.ASP778VALCardiomyopathy, familial hypertrophic 1 (CMH1)
Swiss-ProtVAR_029442Diseasep.CYS905PHECardiomyopathy, familial hypertrophic 1 (CMH1)
Swiss-ProtVAR_020807Diseasep.GLN595ARGCardiomyopathy, familial hypertrophic 1 (CMH1)
Swiss-ProtVAR_029438Diseasep.GLN734GLUCardiomyopathy, familial hypertrophic 1 (CMH1)
Swiss-ProtVAR_042811Diseasep.GLN882GLUCardiomyopathy, familial hypertrophic 1 (CMH1)
Swiss-ProtVAR_020801Diseasep.GLN222LYSCardiomyopathy, familial hypertrophic 1 (CMH1)
Swiss-ProtVAR_042800Diseasep.GLN734PROCardiomyopathy, familial hypertrophic 1 (CMH1)
Swiss-ProtVAR_042789Diseasep.GLU500ALACardiomyopathy, familial hypertrophic 1 (CMH1)
Swiss-ProtVAR_014199Diseasep.GLU743ASPCardiomyopathy, familial hypertrophic 1 (CMH1)
Swiss-ProtVAR_019866Diseasep.GLU1218GLNCardiomyopathy, familial hypertrophic 1 (CMH1)
Swiss-ProtVAR_029434Polymorphismp.GLU466GLNN/A
Swiss-ProtVAR_020814Diseasep.GLU846GLNCardiomyopathy, familial hypertrophic 1 (CMH1)
Swiss-ProtVAR_029443Diseasep.GLU924GLNCardiomyopathy, familial hypertrophic 1 (CMH1)
Swiss-ProtVAR_042774Diseasep.GLU328GLYCardiomyopathy, familial hypertrophic 1 (CMH1)
Swiss-ProtVAR_042812Diseasep.GLU894GLYCardiomyopathy, familial hypertrophic 1 (CMH1)
Swiss-ProtVAR_042824Diseasep.GLU1356LYSCardiomyopathy, familial hypertrophic 1 (CMH1)
Swiss-ProtVAR_042826Diseasep.GLU1426LYSCardiomyopathy, dilated 1S (CMD1S)
Swiss-ProtVAR_020820Diseasep.GLU1555LYSCardiomyopathy, familial hypertrophic 1 (CMH1)
Swiss-ProtVAR_042836Diseasep.GLU1753LYSCardiomyopathy, familial hypertrophic 1 (CMH1)
Swiss-ProtVAR_042837Diseasep.GLU1768LYSCardiomyopathy, familial hypertrophic 1 (CMH1)
Swiss-ProtVAR_042839Diseasep.GLU1883LYSCardiomyopathy, familial hypertrophic 1 (CMH1)
Swiss-ProtVAR_019853Diseasep.GLU483LYSCardiomyopathy, familial hypertrophic 1 (CMH1)
Swiss-ProtVAR_020806Diseasep.GLU499LYSCardiomyopathy, familial hypertrophic 1 (CMH1)
Swiss-ProtVAR_042815Diseasep.GLU921LYSCardiomyopathy, familial hypertrophic 1 (CMH1)
Swiss-ProtVAR_004594Diseasep.GLU924LYSCardiomyopathy, familial hypertrophic 1 (CMH1)
Swiss-ProtVAR_042816Diseasep.GLU927LYSCardiomyopathy, familial hypertrophic 1 (CMH1)
Swiss-ProtVAR_004595Diseasep.GLU930LYSCardiomyopathy, familial hypertrophic 1 (CMH1)
Swiss-ProtVAR_042817Diseasep.GLU931LYSCardiomyopathy, familial hypertrophic 1 (CMH1)
Swiss-ProtVAR_004597Diseasep.GLU935LYSCardiomyopathy, familial hypertrophic 1 (CMH1)
Swiss-ProtVAR_004598Diseasep.GLU949LYSCardiomyopathy, familial hypertrophic 1 (CMH1)
Swiss-ProtVAR_042803Diseasep.GLU774VALCardiomyopathy, familial hypertrophic 1 (CMH1)
Swiss-ProtVAR_042782Diseasep.GLY425ARGCardiomyopathy, familial hypertrophic 1 (CMH1)
Swiss-ProtVAR_042795Diseasep.GLY571ARGCardiomyopathy, familial hypertrophic 1 (CMH1)
Swiss-ProtVAR_004578Diseasep.GLY584ARGCardiomyopathy, familial hypertrophic 1 (CMH1)
Swiss-ProtVAR_004583Diseasep.GLY716ARGCardiomyopathy, familial hypertrophic 1 (CMH1)
Swiss-ProtVAR_004588Diseasep.GLY741ARGCardiomyopathy, familial hypertrophic 1 (CMH1)
Swiss-ProtVAR_019859Diseasep.GLY768ARGCardiomyopathy, familial hypertrophic 1 (CMH1)
Swiss-ProtVAR_042820Diseasep.GLY1057ASPCardiomyopathy, familial hypertrophic 1 (CMH1)
Swiss-ProtVAR_004570Diseasep.GLY256GLUCardiomyopathy, familial hypertrophic 1 (CMH1)
Swiss-ProtVAR_019858Diseasep.GLY733GLUCardiomyopathy, familial hypertrophic 1 (CMH1)
Swiss-ProtVAR_042807Diseasep.GLY823GLUCardiomyopathy, familial hypertrophic 1 (CMH1)
Swiss-ProtVAR_042821Diseasep.GLY1057SERCardiomyopathy, familial hypertrophic 1 (CMH1)
Swiss-ProtVAR_029436Diseasep.GLY584SERCardiomyopathy, familial hypertrophic 1 (CMH1)
Swiss-ProtVAR_004589Diseasep.GLY741TRPCardiomyopathy, familial hypertrophic 1 (CMH1)
Swiss-ProtVAR_042780Diseasep.GLY407VALCardiomyopathy, familial hypertrophic 1 (CMH1)
Swiss-ProtVAR_042796Diseasep.HIS576ARGCardiomyopathy, familial hypertrophic 1 (CMH1)
Swiss-ProtVAR_042840Diseasep.HIS1901LEUMyopathy, myosin storage (MYOMS)
Swiss-ProtVAR_042772Diseasep.ILE263METCardiomyopathy, familial hypertrophic 1 (CMH1)
Swiss-ProtVAR_004587Diseasep.ILE736METCardiomyopathy, familial hypertrophic 1 (CMH1)
Swiss-ProtVAR_042791Diseasep.ILE511PHECardiomyopathy, familial hypertrophic 1 (CMH1)
Swiss-ProtVAR_042768Diseasep.ILE201THRCardiomyopathy, dilated 1S (CMD1S)
Swiss-ProtVAR_004571Diseasep.ILE263THRCardiomyopathy, familial hypertrophic 1 (CMH1)
Swiss-ProtVAR_019851Diseasep.ILE443THRCardiomyopathy, familial hypertrophic 1 (CMH1)
Swiss-ProtVAR_042792Diseasep.ILE511THRCardiomyopathy, familial hypertrophic 1 (CMH1)
Swiss-ProtVAR_029439Diseasep.ILE736THRCardiomyopathy, familial hypertrophic 1 (CMH1)
Swiss-ProtVAR_019865Diseasep.LEU1135ARGCardiomyopathy, familial hypertrophic 1 (CMH1)
Swiss-ProtVAR_045928Diseasep.LEU1414METCardiomyopathy, familial hypertrophic 1 (CMH1)
Swiss-ProtVAR_029435Diseasep.LEU517METCardiomyopathy, familial hypertrophic 1 (CMH1)
Swiss-ProtVAR_029440Diseasep.LEU796PHECardiomyopathy, familial hypertrophic 1 (CMH1)
Swiss-ProtVAR_022371Diseasep.LEU1706PROMyopathy, distal, 1 (MPD1)
Swiss-ProtVAR_067263Diseasep.LEU1297VALCardiomyopathy, dilated 1S (CMD1S)
Swiss-ProtVAR_042771Diseasep.LEU227VALCardiomyopathy, familial hypertrophic 1 (CMH1)
Swiss-ProtVAR_020804Diseasep.LEU390VALCardiomyopathy, familial hypertrophic 1 (CMH1)
Swiss-ProtVAR_020808Diseasep.LEU601VALCardiomyopathy, familial hypertrophic 1 (CMH1)
Swiss-ProtVAR_004593Diseasep.LEU908VALCardiomyopathy, familial hypertrophic 1 (CMH1)
Swiss-ProtVAR_042828Diseasep.LYS1459ASNCardiomyopathy, familial hypertrophic 1 (CMH1)
Swiss-ProtVAR_042764Diseasep.LYS146ASNCardiomyopathy, familial hypertrophic 1 (CMH1)
Swiss-ProtVAR_042841Polymorphismp.LYS1919ASNN/A
dbSNPrs735711 Polymorphismp.LYS365ASNN/A
Swiss-ProtVAR_042776Diseasep.LYS383ASNCardiomyopathy, familial hypertrophic 1 (CMH1)
Swiss-ProtVAR_004582Diseasep.LYS615ASNCardiomyopathy, familial hypertrophic 1 (CMH1)
Swiss-ProtVAR_042769Diseasep.LYS207GLNCardiomyopathy, familial hypertrophic 1 (CMH1)
Swiss-ProtVAR_042797Diseasep.LYS615GLNCardiomyopathy, familial hypertrophic 1 (CMH1)
Swiss-ProtVAR_042775Diseasep.LYS351GLUCardiomyopathy, familial hypertrophic 1 (CMH1)
Swiss-ProtVAR_042786Diseasep.LYS450GLUCardiomyopathy, familial hypertrophic 1 (CMH1)
Swiss-ProtVAR_042787Diseasep.LYS450THRCardiomyopathy, familial hypertrophic 1 (CMH1)
Swiss-ProtVAR_042793Diseasep.MET515ARGCardiomyopathy, familial hypertrophic 1 (CMH1)
Swiss-ProtVAR_019854Diseasep.MET659ILECardiomyopathy, familial hypertrophic 1 (CMH1)
Swiss-ProtVAR_042805Diseasep.MET822LEUCardiomyopathy, familial hypertrophic 1 (CMH1)
Swiss-ProtVAR_020817Diseasep.MET877LYSCardiomyopathy, familial hypertrophic 1 (CMH1)
Swiss-ProtVAR_004572Diseasep.MET349THRCardiomyopathy, familial hypertrophic 1 (CMH1)
Swiss-ProtVAR_042783Diseasep.MET435THRCardiomyopathy, familial hypertrophic 1 (CMH1)
Swiss-ProtVAR_042806Diseasep.MET822THRCardiomyopathy, familial hypertrophic 1 (CMH1)
Swiss-ProtVAR_019862Diseasep.MET852THRCardiomyopathy, familial hypertrophic 1 (CMH1)
Swiss-ProtVAR_039562Diseasep.MET515VALCardiomyopathy, familial hypertrophic 1 (CMH1)
Swiss-ProtVAR_042773Diseasep.PHE312CYSCardiomyopathy, familial hypertrophic 1 (CMH1)
Swiss-ProtVAR_004577Diseasep.PHE513CYSCardiomyopathy, familial hypertrophic 1 (CMH1)
Swiss-ProtVAR_020802Diseasep.PHE244LEUCardiomyopathy, familial hypertrophic 1 (CMH1)
Swiss-ProtVAR_017751Diseasep.PHE764LEUCardiomyopathy, dilated 1S (CMD1S)
Swiss-ProtVAR_042770Diseasep.PRO211LEUCardiomyopathy, familial hypertrophic 1 (CMH1)
Swiss-ProtVAR_004586Diseasep.PRO731LEUCardiomyopathy, familial hypertrophic 1 (CMH1)
Swiss-ProtVAR_020813Diseasep.SER782ASNCardiomyopathy, familial hypertrophic 1 (CMH1)
Swiss-ProtVAR_020819Polymorphismp.SER1491CYSN/A
Swiss-ProtVAR_042831Polymorphismp.SER1519CYSN/A
Swiss-ProtVAR_020821Diseasep.SER1776GLYCardiomyopathy, familial hypertrophic 1 (CMH1)
Swiss-ProtVAR_042765Diseasep.SER148ILECardiomyopathy, familial hypertrophic 1 (CMH1)
Swiss-ProtVAR_017748Diseasep.SER642LEUCardiomyopathy, dilated 1S (CMD1S)
Swiss-ProtVAR_017747Diseasep.SER532PROCardiomyopathy, dilated 1S (CMD1S)
Swiss-ProtVAR_042819Diseasep.THR1019ASNCardiomyopathy, dilated 1S (CMD1S)
Swiss-ProtVAR_019846Diseasep.THR188ASNCardiomyopathy, familial hypertrophic 1 (CMH1)
Swiss-ProtVAR_042781Diseasep.THR412ASNCardiomyopathy, dilated 1S (CMD1S)
Swiss-ProtVAR_020797Diseasep.THR124ILECardiomyopathy, familial hypertrophic 1 (CMH1)
Swiss-ProtVAR_019867Diseasep.THR1377METCardiomyopathy, familial hypertrophic 1 (CMH1)
Swiss-ProtVAR_042838Diseasep.THR1854METCardiomyopathy, familial hypertrophic 1 (CMH1)
Swiss-ProtVAR_042842Diseasep.THR1929METCardiomyopathy, familial hypertrophic 1 (CMH1)
Swiss-ProtVAR_042785Diseasep.THR441METMyopathy, distal, 1 (MPD1)
Swiss-ProtVAR_042830Diseasep.THR1513SERCardiomyopathy, familial hypertrophic 1 (CMH1)
Swiss-ProtVAR_020798Diseasep.TYR162CYSCardiomyopathy, familial hypertrophic 1 (CMH1)
Swiss-ProtVAR_042790Diseasep.TYR501CYSCardiomyopathy, familial hypertrophic 1 (CMH1)
Swiss-ProtVAR_042762Diseasep.TYR115HISCardiomyopathy, familial hypertrophic 1 (CMH1)
Swiss-ProtVAR_067260Diseasep.VAL1044ALACardiomyopathy, dilated 1S (CMD1S)
Swiss-ProtVAR_042799Diseasep.VAL698ALACardiomyopathy, familial hypertrophic 1 (CMH1)
Swiss-ProtVAR_042802Diseasep.VAL763GLYCardiomyopathy, familial hypertrophic 1 (CMH1)
Swiss-ProtVAR_029432Diseasep.VAL411ILECardiomyopathy, familial hypertrophic 1 (CMH1)
Swiss-ProtVAR_004567Diseasep.VAL59ILECardiomyopathy, familial hypertrophic 1 (CMH1)
Swiss-ProtVAR_029441Diseasep.VAL824ILECardiomyopathy, familial hypertrophic 1 (CMH1)
Swiss-ProtVAR_042766Diseasep.VAL186LEUCardiomyopathy, familial hypertrophic 1 (CMH1)
Swiss-ProtVAR_042778Diseasep.VAL404LEUCardiomyopathy, familial hypertrophic 1 (CMH1)
Swiss-ProtVAR_019870Polymorphismp.VAL1692METN/A
Swiss-ProtVAR_020803Diseasep.VAL320METCardiomyopathy, familial hypertrophic 1 (CMH1)
Swiss-ProtVAR_019845Diseasep.VAL39METCardiomyopathy, familial hypertrophic 1 (CMH1)
Swiss-ProtVAR_042779Diseasep.VAL404METCardiomyopathy, familial hypertrophic 1 (CMH1)
Swiss-ProtVAR_020805Diseasep.VAL406METCardiomyopathy, familial hypertrophic 1 (CMH1)
Swiss-ProtVAR_042784Diseasep.VAL440METCardiomyopathy, familial hypertrophic 1 (CMH1)
Swiss-ProtVAR_004581Diseasep.VAL606METCardiomyopathy, familial hypertrophic 1 (CMH1)
Swiss-ProtVAR_045926Diseasep.VAL763METCardiomyopathy, familial hypertrophic 1 (CMH1)
OMIM160760.0042 Diseasep.ALA1766THRLEFT VENTRICULAR NONCOMPACTION 5
OMIM160760.0026 Diseasep.ALA223THRCARDIOMYOPATHY, DILATED, 1S
OMIM160760.0025 Diseasep.ALA728VALCARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1
OMIM160760.0003 Diseasep.ARG453CYSCARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1
OMIM160760.0008 Diseasep.ARG723CYSCARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1
OMIM160760.0002 Diseasep.ARG249GLNCARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1
OMIM160760.0001 Diseasep.ARG403GLNCARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1
OMIM160760.0021 Diseasep.ARG719GLNCARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1
OMIM160760.0040 Diseasep.ARG243HISCARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1||LEFT VENTRICULAR NONCOMPACTION 5, INCLUDED
OMIM160760.0034 Diseasep.ARG870HISCARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1
OMIM160760.0014 Diseasep.ARG403LEUCARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1
OMIM160760.0029 Diseasep.ARG1500PROLAING DISTAL MYOPATHY
OMIM160760.0043 Diseasep.ARG453SERCARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1
OMIM160760.0032 Diseasep.ARG1712TRPCARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1
OMIM160760.0028 Diseasep.ARG1845TRPMYOPATHY, MYOSIN STORAGE||SCAPULOPERONEAL MYOPATHY, MYH7-RELATED, INCLUDED
OMIM160760.0015 Diseasep.ARG403TRPCARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1
OMIM160760.0017 Diseasep.ARG719TRPCARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1
OMIM160760.0046 Diseasep.ASN1918LYSLEFT VENTRICULAR NONCOMPACTION 5
OMIM160760.0013 Diseasep.ASP778GLYCARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1
OMIM160760.0039 Diseasep.ASP906GLYCARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1
OMIM160760.0038 Diseasep.GLU497ASPCARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1
OMIM160760.0024 Diseasep.GLU743ASPCARDIOMYOPATHY, HYPERTROPHIC, MIDVENTRICULAR, DIGENIC
OMIM160760.0035 Diseasep.GLU1883LYSCARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1||MYOPATHY, MYOSIN STORAGE, INCLUDED
OMIM160760.0033 Diseasep.GLU483LYSCARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1
OMIM160760.0006 Diseasep.GLU924LYSCARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1
OMIM160760.0019 Diseasep.GLU935LYSCARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1
OMIM160760.0007 Diseasep.GLU949LYSCARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1
OMIM160760.0004 Diseasep.GLY584ARGCARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1
OMIM160760.0018 Diseasep.GLY716ARGCARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1
OMIM160760.0011 Diseasep.GLY741ARGCARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1
OMIM160760.0012 Diseasep.GLY256GLUCARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1
OMIM160760.0031 Diseasep.HIS1904LEUMYOPATHY, MYOSIN STORAGE
OMIM160760.0037 Diseasep.LEU1793PROMYOPATHY, MYOSIN STORAGE||CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1, INCLUDED;;||LEFT VENTRICULAR NONCOMPACTION 5, INCLUD
OMIM160760.0010 Diseasep.LEU908VALCARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1
OMIM160760.0020 Diseasep.MET349THRCARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1
OMIM160760.0016 Diseasep.PHE513CYSCARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1
OMIM160760.0023 Diseasep.PHE764LEUCARDIOMYOPATHY, DILATED, 1S
OMIM160760.0027 Diseasep.SER642LEUCARDIOMYOPATHY, DILATED, 1S
OMIM160760.0022 Diseasep.SER532PROCARDIOMYOPATHY, DILATED, 1S
OMIM160760.0036 Diseasep.THR441METLAING DISTAL MYOPATHY
OMIM160760.0045 Diseasep.TYR283ASPLEFT VENTRICULAR NONCOMPACTION 5
OMIM160760.0005 Diseasep.VAL606METCARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1



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