EC Number   |
Protein Variants |
Reference |
|---|
    5.1.3.14 | H157A |
mutant enzyme shows a drastic loss of epimerase activity, loss of epimerase activity can largely by attributed to incorrect protein folding |
641739 |
| 5.1.3.14 | H132A |
mutant enzyme shows a drastic loss of epimerase activity, oligomerization is significantly different from that of the wild-type enzyme, loss of epimerase activity can largely by attributed to incorrect protein folding |
641739 |
| 5.1.3.14 | H110A |
mutant enzyme shows a drastic loss of epimerase activity, oligomerization is significantly different from that of the wild-type enzyme,loss of epimerase activity can largely by attributed to incorrect protein folding |
641739 |
| 5.1.3.14 | DELTA1-234 |
mutant enzyme shows no N-epimerase activity |
660988 |
| 5.1.3.14 | DELTA1-356 |
mutant enzyme shows no N-epimerase activity |
660988 |
| 5.1.3.14 | DELTA1-39 |
mutant enzyme shows no N-epimerase activity |
660988 |
| 5.1.3.14 | more |
mutant genotyping, overview. Modeling of effects of GNE/MNK missense mutations associated with HIBM or sialuria on helix arrangement, substrate binding, and enzyme action, overview. All reported mutations are associated with the active sites or secondary structure interfaces of GNE/MNK |
703912 |
| 5.1.3.14 | G708S |
mutation in patients with distal myopathy with rimmed vacuoles, UDP-N-acetylglucosamine 2-epimerase activity of mutant enzyme is reduced to 50% of wild-type activity |
662186 |
| 5.1.3.14 | I472T |
mutation in patients with distal myopathy with rimmed vacuoles, UDP-N-acetylglucosamine 2-epimerase activity of mutant enzyme is reduced to 50% of wild-type activity |
662186 |
| 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 |
