EC Number   |
Protein Variants |
Reference |
|---|
    2.7.1.60 | A524V |
30% ManNAc kinase activity of the wild type enzyme |
672131 |
| 2.7.1.60 | A630T |
40% ManNAc kinase activity of the wild type enzyme |
672131 |
| 2.7.1.60 | A630T |
homozygous mutant of the N-acetylmannose kinase domain, involved in GNE myopathy |
723028 |
| 2.7.1.60 | A631T |
75% ManNAc kinase activity of the wild type enzyme |
672131 |
| 2.7.1.60 | A631V |
15% ManNAc kinase activity of the wild type enzyme |
672131 |
| 2.7.1.60 | A631V |
65% ManNAc kinase activity of the wild type enzyme |
672131 |
| 2.7.1.60 | C13S |
105% ManNAc kinase activity of the wild type enzyme |
672131 |
| 2.7.1.60 | C13S |
the mutation is associated with distal myopathy with rimmed vacuoles |
739177 |
| 2.7.1.60 | C303V |
60% ManNAc kinase activity of the wild type enzyme |
672131 |
| 2.7.1.60 | C303X |
no ManNAc kinase activity |
672131 |
