EC Number   |
Protein Variants |
Reference |
|---|
   3.2.1.183 | A287V |
naturally occuring mutation, pathogenic variant with possible effect on splicing, severe phenotype |
754462 |
| 3.2.1.183 | C13S |
naturally occuring heterozygous missense mutation of a Chinese distal myopathy (DMRV) patient, phenotype, overview. A c.131G->C homozygous missense mutation on exon 3, leading to a C13S amino acid change |
748765 |
| 3.2.1.183 | C612F |
naturally occuring mutation, pathogenic variant without effect on splicing, severe phenotype |
754462 |
| 3.2.1.183 | C617Y |
naturally occuring mutation, pathogenic variant without effect on splicing, severe phenotype |
754462 |
| 3.2.1.183 | D100N |
mutant is found to be significantly catalytically compromised (kcat reduced by 1000) |
-, 661102 |
| 3.2.1.183 | D112A |
site-directed mutagenesis, the mutant shows 97.7% reduced activity compared to the wild-type enzyme |
749313 |
| 3.2.1.183 | D131N |
mutant is found to be significantly catalytically compromised (kcat reduced by 1000), 2-acetamidoglucal is released from the active site during catalysis, providing direct evidence that the enzyme is capable of catalyzing the anti elimination of UDP from UDP-GlcNAc |
661102 |
| 3.2.1.183 | D143A |
site-directed mutagenesis, inactive mutant |
749313 |
| 3.2.1.183 | D143A |
the GNE catalytic site mutant completely loses its activity |
748227 |
| 3.2.1.183 | D176V |
naturally occuring mutation in hereditary inclusion body myopathy (GNE myopathy) patients, phenotype, detailed overview. The mutant enzyme shows 85% reduced activity of the epimerase compared to the wild-type enzyme |
748689 |
