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Literature summary for 3.4.22.54 extracted from

  • Saenz, A.; Leturcq, F.; et.al.
    LGMD2A: genotype-phenotype correlations based on a large mutational survey on the calpain 3 gene (2005), Brain, 128, 732-742.
    View publication on PubMed

Protein Variants

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

Organism UniProt Comment Textmining
Homo sapiens
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limb-girdle muscular dystrophy type 2A patients
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Source Tissue

Source Tissue Comment Organism Textmining