Myh7 - SNV Details



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

 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 54,987,388     (Assembly: GRCm38)    
Ref Base T
Var Base C
Zygosity Heterozygous
Read Depth 179
Allele Frequency
T:R0.45
C:V0.53
Amino Acid Change E->G (Glutamic acid -> Glycine)
Sample ID IGL00392
Median Base Quality 36
Backgrounds Balb/C,C57BL/6
Source Walter and Eliza Hall Institute (WEHI-G1)
Other variants in this mouse 35 Other Mutations

 Predictions 
Polyphen Score 0.99
Polyphen Prediction Probably damaging

 Availability Details 
Availability Cryopreserved