Literature summary for 3.4.22.54 extracted from

Kawai, H.; Akaike, M.; Kunishige, M.; et al.
Clinical, pathological, and genetic features of limb-girdle muscular dystrophy type 2A with new calpain 3 gene mutations in seven patients from three Japanese families (1998), Muscle Nerve, 21, 1493-1501.

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Protein Variants

Protein Variants	Comment	Organism
additional information	genetic features of 7 patients with limb-girdle muscular dystrophy type 2A from three Japanese families. In two families, an identical G to C mutation at position 1080 the in calpain 3 gene is identified, and a frameshift mutation 1796insA is found in the third family. The former mutation results in a W360R substitution in the proteolytic site of calpain 3, and the latter in a deletion of the Ca2+-binding domain	Homo sapiens

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	P20807	-	-

Source Tissue

Source Tissue	Comment	Organism	Textmining
skeletal muscle	-	Homo sapiens	-

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Release 2023.1 (January 2023)