Neb - SNV Details



 Human Rare Diseases 
Severe congenital nemaline myopathy
Intermediate nemaline myopathy
Typical nemaline myopathy
Mild nemaline myopathy

 Gene Information 
Gene Name Neb
Old Gene Names for Neb Ai595938
Gene Description nebulin [Source:MGI Symbol;Acc:MGI:97292]
Uniprot Name
CCDS Name
Gene GO
sarcomere organization; contractile fiber part; protein complex; protein binding; Z disc; striated muscle thin filament; regulation of actin filament length
Homolog in other species NEB
Omim http://omim.org/entry/161650
Immgen Expression
MEDIAN(HIGH IN TGD GROUP, ABT GROUP, TACTIVATION GROUP)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000026950
Chromosome 2
Coordinate 52,280,575     (Assembly: GRCm38)    
Ref Base T
Codon Change gAg/gTg
Var Base A
Zygosity Heterozygous
Read Depth 22
Allele Frequency
T:R0.41
A:V0.55
Amino Acid Position 1695
Amino Acid Change E->V (Glutamic acid -> Valine)
Sample ID IGL01897
Median Base Quality 35.5
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 35 Other Mutations

 Predictions 
Polyphen Score 0.95
Polyphen Prediction Possibly damaging

 Availability Details 
Availability Cryopreserved