5.1.3.14 D176V a naturally occuirng missense mutation the epimerase part of the bifunctional enzyme 703912 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 D225N a naturally occuirng missense mutation the epimerase part of the bifunctional enzyme 703912 5.1.3.14 D378Y 60% reduction of epimerase activity 672131 5.1.3.14 D378Y a naturally occuirng missense mutation the epimerase part of the bifunctional enzyme 703912 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 D413K enzyme with mutation in the putative kinase active site shows drastic loss in their kinase activity but retains their epimerase activity 641739 5.1.3.14 D413N enzyme with mutation in the putative kinase active site shows drastic loss in their kinase activity but retains their epimerase activity 641739 5.1.3.14 D95N about 18000 fold decrease in turnover number for UDP-N-acetyl-D-glucosamine, not possible to obtain accurate kinetic constants 661247