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EC Number
Protein Variants
Commentary
Reference
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
V331A
a naturally occuirng missense mutation the epimerase part of the bifunctional enzyme
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
V367I
a naturally occuirng missense mutation the epimerase part of the bifunctional enzyme
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
V696M
a naturally occuring missense mutation in exon 12 of the GNE gene of a patient with hereditary inclusion body myopathy
V696M
naturally occuring missense mutation G2086A involved in hereditary inclusion body myopathy, phenotype, overview
W204X
a naturally occuring nonsense mutation in exon 3 of the GNE gene of a patient with hereditary inclusion body myopathy
Y194X
site-directed mutagenesis
Y675H
a naturally occuring missense mutation in exon 12 of the GNE gene of a patient with hereditary inclusion body myopathy
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