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<< < Results 11 - 20 of 106 > >>
EC Number
Amino acid exchange
Commentary
Reference
D176V
a naturally occuirng missense mutation the epimerase part of the bifunctional enzyme
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
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
D225N
a naturally occuirng missense mutation the epimerase part of the bifunctional enzyme
D378Y
60% reduction of epimerase activity
D378Y
a naturally occuirng missense mutation the epimerase part of the bifunctional enzyme
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
D413K
enzyme with mutation in the putative kinase active site shows drastic loss in their kinase activity but retains their epimerase activity
D413N
enzyme with mutation in the putative kinase active site shows drastic loss in their kinase activity but retains their epimerase activity
D95N
about 18000 fold decrease in turnover number for UDP-N-acetyl-D-glucosamine, not possible to obtain accurate kinetic constants
<< < Results 11 - 20 of 106 > >>