Myh2 - SNV Details



 Human Rare Diseases 
Hereditary inclusion body myopathy - joint contractures - ophthalmoplegia

 Gene Information 
Gene Name Myh2
Old Gene Names for Myh2 Myhsf1 , Myhs-f1
Gene Description myosin, heavy polypeptide 2, skeletal muscle, adult [Source:MGI Symbol;Acc:MGI:1339710]
Uniprot Name
CCDS Name
Gene GO
structural constituent of ribosome; muscle myosin complex; membrane; motor activity; myosin complex; translation; intracellular; A band; response to activity; metabolic process; actomyosin contractile ring; protein complex; cell-cell junction; protein binding; ribosome; vesicle-mediated transport; actin-mediated cell contraction; ATP binding; myofibril; plasma membrane repair; actin binding; nucleolus; focal adhesion; Golgi apparatus
Homolog in other species MYH2
Omim http://omim.org/entry/160740
Immgen Expression
MEDIAN(HIGHER IN NK GROUP, T.8MEM.LN, TGD.SPT.4NVE.PP, T.4FP3+25+.SP)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000033196
Chromosome 11
Coordinate 67,180,836     (Assembly: GRCm38)    
Ref Base A
Var Base G
Zygosity Heterozygous
Read Depth 68
Allele Frequency
A:R0.43
G:V0.57
Amino Acid Change N->S (Asparagine -> Serine)
Sample ID IGL03075
Median Base Quality 38
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 33 Other Mutations

 Predictions 

 Availability Details 
Availability Cryopreserved