EC Number |
Protein Variants |
Reference |
---|
5.1.3.14 | V572L |
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 | 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 | 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 | 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 | H132Q |
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 | V331A |
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 | G135V/R246W |
mutation in patients with hereditary inclusion body myopathy: G135V/R246W (GNE/GNE domain mutation), UDP-N-acetylglucosamine 2-epimerase activity is 38% of wild-type, N-acetylmannosamine kinase activity is 72% of wild-type |
661840 |
5.1.3.14 | V696M |
naturally occuring missense mutation G2086A involved in hereditary inclusion body myopathy, phenotype, overview |
703285 |
5.1.3.14 | D100N |
no conversion of UDP-N-acetyl-D-glucosamine to UDP + N-acetyl-D-mannosamine |
-, 661102 |