EC Number   |
Protein Variants |
Reference |
|---|
    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 | more |
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 | more |
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 | more |
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 |
