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	C13S	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	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	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	H132Q	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	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	G135V/R246W	mutation in patients with hereditary inclusion body myopathy: G135V/R246W (GNE/GNE domain mutation), UDP-N-acetylglucosamine 2-epimerase activity is 38% of wild-type, N-acetylmannosamine kinase activity is 72% of wild-type	661840	
5.1.3.14	V696M	naturally occuring missense mutation G2086A involved in hereditary inclusion body myopathy, phenotype, overview	703285	
5.1.3.14	D100N	no conversion of UDP-N-acetyl-D-glucosamine to UDP + N-acetyl-D-mannosamine	-, 661102