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	
5.1.3.14	E122Q	no conversion of UDP-N-acetyl-D-glucosamine to UDP + N-acetyl-D-mannosamine, acetamidoglucal is released from the active site during catalysis	-, 661102	
5.1.3.14	additional information	sialuria is caused by the loss of feedback control of UDP-GlcNAc 2-epimerase activity due to the mutation of only one of the two arginine residues 263 and 266	702507	
5.1.3.14	P12L	site-diected mutagenesis	-, 755205	
5.1.3.14	Y194X	site-directed mutagenesis	-, 755205	
5.1.3.14	additional information	splice variant hGNE2, recombinantly expressed in insect and mamalian cells, displays selective reduction of UDPGlcNAc 2-epimerase activity by the loss of its tetrameric state, which is essential for full enzyme activity. Splice variant hGNE3 only possesses kinase activity	692536	
5.1.3.14	C303X	the C303X protein does not display any enzymatic activity	672131	
5.1.3.14	additional information	the frame shif mutation 1295delA, leading to a premature stop codon at K432, is involved in hereditary inclusion body myopathy, phenotype, overview	703285	
5.1.3.14	M712T	the homozygous M712T mutation of UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase results in reduced enzyme activities but not in altered overall cellular sialylation in hereditary inclusion body myopathy	661735	
5.1.3.14	M712T	the Persian-Jewish HIBM founder mutation is located at the interface alpha4alpha10 of GNE and likely affects GlcNAc, Mg2+, and ATP binding	703912