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 | 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 | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | P20807 | - |
- |
Source Tissue | Comment | Organism | Textmining |
---|---|---|---|
skeletal muscle | - |
Homo sapiens | - |
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 | ? | - |
? |