EC Number   |
Protein Variants  |
Reference |
|---|
    5.1.3.14 | D176V |
a naturally occuirng missense mutation the epimerase part of the bifunctional enzyme |
703912 |
| 5.1.3.14 | D176V |
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 | D177C |
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 | D225N |
a naturally occuirng missense mutation the epimerase part of the bifunctional enzyme |
703912 |
| 5.1.3.14 | D378Y |
60% reduction of epimerase activity |
672131 |
| 5.1.3.14 | D378Y |
a naturally occuirng missense mutation the epimerase part of the bifunctional enzyme |
703912 |
| 5.1.3.14 | D378Y |
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 | D413K |
enzyme with mutation in the putative kinase active site shows drastic loss in their kinase activity but retains their epimerase activity |
641739 |
| 5.1.3.14 | D413N |
enzyme with mutation in the putative kinase active site shows drastic loss in their kinase activity but retains their epimerase activity |
641739 |
| 5.1.3.14 | D95N |
about 18000 fold decrease in turnover number for UDP-N-acetyl-D-glucosamine, not possible to obtain accurate kinetic constants |
661247 |
