EC Number   |
Protein Variants |
Reference |
|---|
    6.3.4.16 | D810N |
no carbamoyl phosphate synthesis |
652334 |
| 6.3.4.16 | E261Q |
no synthesis of carbonyl phosphate in presence of L-glutamine |
652418 |
| 6.3.4.16 | G1376S |
the mutation has no detectable effect on activity |
727610 |
| 6.3.4.16 | H262N |
no carbamoyl phosphate synthesis |
-, 652334 |
| 6.3.4.16 | H807N |
about 30% of the specific acitivity of the wild-type enzyme |
652334 |
| 6.3.4.16 | I316G |
about 10% of the specific acitivity of the wild-type enzyme |
652334 |
| 6.3.4.16 | I316H |
no carbamoyl phosphate synthesis |
652334 |
| 6.3.4.16 | I316S |
about 30% of the specific acitivity of the wild-type enzyme |
652334 |
| 6.3.4.16 | K258L |
synthesis of carbonyl phosphate in presence of L-glutamine |
652418 |
| 6.3.4.16 | L1381S |
the mutation is clearly disease-causing (carbamoyl-phosphate synthetase deficiency), since it induces strong enzyme instability |
727610 |
