Protein Variants | Comment | Organism |
---|---|---|
A101K | limb-girdle muscular dystrophy 2A | Homo sapiens |
A489W | limb-girdle muscular dystrophy 2A | Homo sapiens |
A490W | limb-girdle muscular dystrophy 2A | Homo sapiens |
A748Q | limb-girdle muscular dystrophy 2A | Homo sapiens |
A788S | limb-girdle muscular dystrophy 2A | Homo sapiens |
D268A | limb-girdle muscular dystrophy 2A | Homo sapiens |
D665LfsX18 | limb-girdle muscular dystrophy 2A | Homo sapiens |
E206K | limb-girdle muscular dystrophy 2A | Homo sapiens |
F167AfsX29 | limb-girdle muscular dystrophy 2A | Homo sapiens |
G222A | limb-girdle muscular dystrophy 2A | Homo sapiens |
G691WfsX7 | limb-girdle muscular dystrophy 2A | Homo sapiens |
H690RfsX9 | limb-girdle muscular dystrophy 2A | Homo sapiens |
K254del | limb-girdle muscular dystrophy 2A | Homo sapiens |
K254E | limb-girdle muscular dystrophy 2A | Homo sapiens |
K595VfsX70 | limb-girdle muscular dystrophy 2A | Homo sapiens |
K729VfsX21 | limb-girdle muscular dystrophy 2A | Homo sapiens |
L212SfsX8 | limb-girdle muscular dystrophy 2A | Homo sapiens |
P637HfsX25 | limb-girdle muscular dystrophy 2A | Homo sapiens |
Q142X | limb-girdle muscular dystrophy 2A | Homo sapiens |
Q565P | limb-girdle muscular dystrophy 2A | Homo sapiens |
R437C | limb-girdle muscular dystrophy 2A | Homo sapiens |
R490Q | limb-girdle muscular dystrophy 2A | Homo sapiens |
R572T | limb-girdle muscular dystrophy 2A | Homo sapiens |
R748Q | limb-girdle muscular dystrophy 2A | Homo sapiens |
R788SfsX14 | limb-girdle muscular dystrophy 2A | Homo sapiens |
S260F | limb-girdle muscular dystrophy 2A | Homo sapiens |
S479G | limb-girdle muscular dystrophy 2A | Homo sapiens |
T139I | limb-girdle muscular dystrophy 2A | Homo sapiens |
Organism | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | - |
- |
- |
Source Tissue | Comment | Organism | Textmining |
---|---|---|---|
leukocyte | - |
Homo sapiens | - |
peripheral blood | - |
Homo sapiens | - |
skeletal muscle | musculus quadriceps | Homo sapiens | - |
Synonyms | Comment | Organism |
---|---|---|
calpain 3 | - |
Homo sapiens |
CAPN3 | - |
Homo sapiens |
p94 | - |
Homo sapiens |