EC Number |
Protein Variants |
Reference |
---|
5.1.3.14 | A630T |
mutation in patients with distal myopathy with rimmed vacuoles, UDP-N-acetylglucosamine 2-epimerase activity of mutant enzyme is reduced to 70-80% of wild-type activity |
662186 |
5.1.3.14 | A631V |
a naturally occuring missense mutation in exon 11 of the GNE gene of a patient with hereditary inclusion body myopathy |
703865 |
5.1.3.14 | C13S |
a naturally occuirng missense mutation the epimerase part of the bifunctional enzyme |
703912 |
5.1.3.14 | C13S |
mutation in patients with distal myopathy with rimmed vacuoles, UDP-N-acetylglucosamine 2-epimerase activity of mutant enzyme is reduced to less than 20% of wild-type |
662186 |
5.1.3.14 | C303V |
a naturally occuirng missense mutation the epimerase part of the bifunctional enzyme |
703912 |
5.1.3.14 | C303V |
exhibited almost no reduction in epimerase activity |
672131 |
5.1.3.14 | C303X |
a naturally occuirng missense mutation the epimerase part of the bifunctional enzyme |
703912 |
5.1.3.14 | C303X |
the C303X protein does not display any enzymatic activity |
672131 |
5.1.3.14 | D100N |
no conversion of UDP-N-acetyl-D-glucosamine to UDP + N-acetyl-D-mannosamine |
-, 661102 |
5.1.3.14 | D131N |
no conversion of UDP-N-acetyl-D-glucosamine to UDP + N-acetyl-D-mannosamine, acetamidoglucal is released from the active site during catalysis |
-, 661102 |