EC Number |
Protein Variants |
Reference |
---|
5.1.3.14 | R8X |
a naturally occuring nonsense mutation in exon 2 of the GNE gene of a patient with hereditary inclusion body myopathy |
703865 |
5.1.3.14 | S615X |
a naturally occuring nonsense mutation in exon 11 of the GNE gene of a patient with hereditary inclusion body myopathy |
703865 |
5.1.3.14 | V216A |
a naturally occuirng missense mutation the epimerase part of the bifunctional enzyme |
703912 |
5.1.3.14 | V216A/A631V |
V216A/A631V (GNE/MNK domain mutation), UDP-N-acetylglucosamine 2-epimerase activity is 48% of wild-type, N-acetylmannosamine kinase activity is 63% of wild-type |
661840 |
5.1.3.14 | V331A |
a naturally occuirng missense mutation the epimerase part of the bifunctional enzyme |
703912 |
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 | V367I |
a naturally occuirng missense mutation the epimerase part of the bifunctional enzyme |
703912 |
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 | V696M |
a naturally occuring missense mutation in exon 12 of the GNE gene of a patient with hereditary inclusion body myopathy |
703865 |
5.1.3.14 | V696M |
naturally occuring missense mutation G2086A involved in hereditary inclusion body myopathy, phenotype, overview |
703285 |