Myh7 - SNV Details



 Human Rare Diseases 
Left ventricular noncompaction
Scapuloperoneal amyotrophy
Classic multiminicore myopathy
Laing distal myopathy
Hyaline body myopathy
Familial isolated dilated cardiomyopathy

 Gene Information 
Gene Name Myh7
Old Gene Names for Myh7 Myhc-b , Myhcb
Gene Description myosin, heavy polypeptide 7, cardiac muscle, beta [Source:MGI Symbol;Acc:MGI:2155600]
Uniprot Name
CCDS Name
Gene GO
myosin filament; ATPase activity; striated muscle contraction; motor activity; cytoplasm; muscle contraction; myosin complex; adult heart development; actin-dependent ATPase activity; protein binding; ventricular cardiac muscle tissue morphogenesis; nucleus; regulation of the force of heart contraction; microfilament motor activity; Z disc; calmodulin binding; actin filament binding; regulation of heart rate; ATP binding; myofibril; stress fiber; structural constituent of muscle; actin binding; nucleolus; muscle filament sliding; focal adhesion; ATP catabolic process
Homolog in other species MYH7
Omim http://omim.org/entry/160760
Immgen Expression
MEDIAN(LOWER IN DC8+.TH, TGD.VG5+.ACT.IEL)
LOW
Gnf Expression
MEDIAN(HIGH IN C2C12, HEART, SKELETALMUSCLE)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000053093
Chromosome 14
Coordinate 54,975,361     (Assembly: GRCm38)    
Ref Base G
Var Base T
Zygosity Heterozygous
Read Depth 19
Allele Frequency
G:R0.53
T:V0.47
Amino Acid Change A->D (Alanine -> Aspartic acid)
Sample ID IGL03394
Median Base Quality 38
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 47 Other Mutations

 Predictions 
Polyphen Score 0.45
Polyphen Prediction Possibly damaging

 Availability Details 
Availability Cryopreserved