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