Any feedback?
Please rate this page
(literature.php)
(0/150)

BRENDA support

Literature summary for 3.4.22.54 extracted from

  • Blazquez, L.; Azpitarte, M.; Saenz, A.; Goicoechea, M.; Otaegui, D.; Ferrer, X.; Illa, I.; Gutierrez-Rivas, E.; Vilchez, J.J.; Lopez de Munain, A.
    Characterization of novel CAPN3 isoforms in white blood cells: an alternative approach for limb-girdle muscular dystrophy 2A diagnosis (2008), Neurogenetics, 9, 173-182.
    View publication on PubMed

Protein Variants

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

Organism UniProt Comment Textmining
Homo sapiens
-
-
-

Source Tissue

Source Tissue Comment Organism Textmining
leukocyte
-
Homo sapiens
-
peripheral blood
-
Homo sapiens
-
skeletal muscle musculus quadriceps Homo sapiens
-

Synonyms

Synonyms Comment Organism
calpain 3
-
Homo sapiens
CAPN3
-
Homo sapiens
p94
-
Homo sapiens