EC Number |
Protein Variants |
Reference |
---|
2.7.7.12 | A101D |
mutation identified in a in patient with classic galactosemia |
737939 |
2.7.7.12 | A276N |
mutation identified in a in patient with classic galactosemia |
737939 |
2.7.7.12 | C160A |
- |
642863 |
2.7.7.12 | C160A |
site-directed mutagenesis, 18fold reduced activity |
642860 |
2.7.7.12 | C160S |
site-directed mutagenesis, 12fold reduced activity |
642860 |
2.7.7.12 | C52S |
site-directed mutagenesis, 3000fold less active than the wild-type, no formation of reaction intermediate UMP-enzyme, low metal content, low expression level |
642858 |
2.7.7.12 | C55S |
site-directed mutagenesis, 600fold less active than the wild-type, no formation of reaction intermediate UMP-enzyme, low metal content, low expression level |
642858 |
2.7.7.12 | D28Y |
variant associated with type I galactosemia. 13.5% of wild-type activity |
737739 |
2.7.7.12 | E182A |
site-directed mutagenesis, 50% activity compared to wild-type, normal formation of reaction intermediate UMP-enzyme, contains reduced zinc content and no iron |
642858 |
2.7.7.12 | E203K |
native heterozygous mutant, reduced activity by about 50% in erythrocytes |
642844 |