Dysf - SNV Details



 Human Rare Diseases 
Distal myopathy with anterior tibial onset
Congenital myopathy, Paradas type
Miyoshi myopathy
Autosomal recessive limb-girdle muscular dystrophy type 2B

 Gene Information 
Gene Name Dysf
Old Gene Names for Dysf D6pas3 , 2310004n10rik , Ai604795
Gene Description dysferlin [Source:MGI Symbol;Acc:MGI:1349385]
MGI phenotype Homozygotes display dystrophic muscle changes and progressive muscle weakness developing over time.
Uniprot Name
CCDS Name
Gene GO
cytoplasmic vesicle membrane; integral to membrane; calcium-dependent phospholipid binding; sarcolemma; vesicle fusion; T-tubule; protein binding; lamellipodium; cytoplasmic vesicle; plasma membrane repair
Homolog in other species DYSF
Omim http://omim.org/entry/603009
Immgen Expression
LOW/MEDIAN(HIGH IN MF.RP.SP)
Gnf Expression
LOW/MEDIAN(HIGH IN C2C12, M1)
Novel Yes

 Mutation Information 
Mutation Type Splice
Ensembl ID ENSMUSG00000033788
Chromosome 6
Coordinate 84,210,787     (Assembly: GRCm38)    
Ref Base T
Var Base A
Zygosity Heterozygous
Read Depth 72
Allele Frequency
T:R0.56
A:V0.43
Amino Acid Change Disrupted splicing
Splice Position 6
Sample ID IGL02002
Median Base Quality 35
Backgrounds Balb/c:C57BL/6
Source Walter and Eliza Hall Institute (WEHI-G1)
Other variants in this mouse 54 Other Mutations

 Predictions 

 Availability Details 
Availability Cryopreserved