EC Number   |
Protein Variants |
Reference |
|---|
    6.3.4.16 | R1262X |
a premature stop codon mutation naturally occuring in carbamoyl phosphate synthetase 1 deficiency, CPS1D |
702953 |
| 6.3.4.16 | D265E |
about 10% of the specific acitivity of the wild-type enzyme |
652334 |
| 6.3.4.16 | D265N |
about 10% 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 | H807N |
about 30% of the specific acitivity of the wild-type enzyme |
652334 |
| 6.3.4.16 | I316S |
about 30% of the specific acitivity of the wild-type enzyme |
652334 |
| 6.3.4.16 | L229G |
about 30% of the specific acitivity of the wild-type enzyme |
-, 652334 |
| 6.3.4.16 | S228A |
about 30% of the specific acitivity of the wild-type enzyme |
-, 652334 |
| 6.3.4.16 | more |
connstruction of a domain A deleted mutant hCPS_DELTAA and functional characterization, the mutant shows slightly inccreased catalytic efficiency in absence of N-acetylglutamate and a 4fold increased Km for N-acetylglutamate compared to the wild-type enzyme |
693489 |
| 6.3.4.16 | more |
construction of deletion mutant lacking the last 13 residues of the carboxyl end, 70% decrease of the enzyme activity in comparison of the full-length protein |
651213 |
