EC Number   |
Protein Variants |
Reference |
|---|
    1.2.1.24 | A237S |
missense mutation of patient with succinate semialdehyde dehydrogenase deficiency, 65% of the succinate semialdehyde dehydrogenase activity of the wild-type enzyme |
655701 |
| 1.2.1.24 | A237S |
the mutant shows 65% activity compared to the wild type enzyme |
710394 |
| 1.2.1.24 | A237S/T423S |
naturally occuring mutation, the mutant shows about 70% reduced activity compared to wild-type |
763472 |
| 1.2.1.24 | A273S |
mutant with activity reduction |
710898 |
| 1.2.1.24 | A273S |
naturally occuring missense variant expressed in HEK293 cells, 65.1% of the SSADH activity of the wild-type enzyme |
656808 |
| 1.2.1.24 | A273S |
the mutant shows enzyme activity reduction |
698174 |
| 1.2.1.24 | C196A |
loss in specific activity of 55% |
692615 |
| 1.2.1.24 | C196S |
loss in specific activity of 74% |
692615 |
| 1.2.1.24 | C223R |
missense mutation associated with a dramatic reduction of enzyme activity |
699382 |
| 1.2.1.24 | C223R |
the mutation is associated with gamma-hydroxybutyric aciduria |
710898 |
