Literature summary for 3.4.22.54 extracted from

Penisson-Besnier, I.; Richard, I.; Dubas, F.; Beckmann, J.S.; Fardeau, M.
Pseudometabolic expression and phenotypic variability of calpain deficiency in two siblings (1998), Muscle Nerve, 21, 1078-1080.

Search for more literature for 3.4.22.54

Protein Variants

Protein Variants	Comment	Organism
additional information	two siblings originating from Reunion Island are affected by a limb-girdle muscular dystrophy type 2A and carry the same two mutations in the calpain gene: 946-1 AGtoAA, affecting a splice site, and S744G. They demonstrate the clinical variability possible with calpain-3 mutations	Homo sapiens

Natural Substrates/ Products (Substrates)

Natural Substrates	Organism	Comment (Nat. Sub.)	Natural Products	Comment (Nat. Pro.)	Rev.	Reac.
additional information	Homo sapiens	two siblings originating from Reunion Island are affected by a limb-girdle muscular dystrophy type 2A and carry the same two mutations in the calpain gene: 946-1 AGtoAA, affecting a splice site, and S744G. They demonstrate the clinical variability possible with calpain-3 mutations	?	-	?

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	P20807	-	-

Source Tissue

Source Tissue	Comment	Organism	Textmining
skeletal muscle	-	Homo sapiens	-

Substrates and Products (Substrate)

Substrates	Comment Substrates	Organism	Products	Comment (Products)	Rev.	Reac.
additional information	two siblings originating from Reunion Island are affected by a limb-girdle muscular dystrophy type 2A and carry the same two mutations in the calpain gene: 946-1 AGtoAA, affecting a splice site, and S744G. They demonstrate the clinical variability possible with calpain-3 mutations	Homo sapiens	?	-	?

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Release 2023.1 (January 2023)