Protein Variants | Comment | Organism |
---|---|---|
additional information | identification of 105 different mutations in calpain 3 gene of patients with limb-girdle muscular dystrophy type 2A. The most frequent mutation is 2362AG->TCATCT (exon 22), which is present in 30.7% of the chromosomes analysed. Other recurrent mutations described are N50S,550DELTA1, G222R, IVS6-1G->A, A483D, IVS17 + 1G->T, 2069-2070DELTAAC, R748Q and R748X, each of which are found in more than 5 chromosomes (of 146). Genotype-phenotype correlation | Homo sapiens |
Organism | UniProt | Comment | Textmining |
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Homo sapiens | - |
limb-girdle muscular dystrophy type 2A patients | - |
Source Tissue | Comment | Organism | Textmining |
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