5.1.3.14	A630T	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	A631V	a naturally occuring missense mutation in exon 11 of the GNE gene of a patient with hereditary inclusion body myopathy	703865	
5.1.3.14	C13S	a naturally occuirng missense mutation the epimerase part of the bifunctional enzyme	703912	
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	C303V	a naturally occuirng missense mutation the epimerase part of the bifunctional enzyme	703912	
5.1.3.14	C303V	exhibited almost no reduction in epimerase activity	672131	
5.1.3.14	C303X	a naturally occuirng missense mutation the epimerase part of the bifunctional enzyme	703912	
5.1.3.14	C303X	the C303X protein does not display any enzymatic activity	672131	
5.1.3.14	D100N	no conversion of UDP-N-acetyl-D-glucosamine to UDP + N-acetyl-D-mannosamine	-, 661102	
5.1.3.14	D131N	no conversion of UDP-N-acetyl-D-glucosamine to UDP + N-acetyl-D-mannosamine, acetamidoglucal is released from the active site during catalysis	-, 661102