EC Number   |
Protein Variants |
Reference |
|---|
    6.3.4.5 | A192V |
mutant G280R has no ASS activity, mutants A192V, R272C, and R304W have low ASS activity and abnormal kinetics. A higher Km for citrulline than in wild-type enzyme is obtained with mutants A192V, R272C, and R304W |
1598 |
| 6.3.4.5 | D296G |
mutation of the argininosuccinate synthetase gene, found in patients |
703969 |
| 6.3.4.5 | E191Q |
mutation of the argininosuccinate synthetase gene, found in patients |
703969 |
| 6.3.4.5 | G1168A |
mutation results in citrullinemia type I |
703248 |
| 6.3.4.5 | G128S |
inactive |
728544 |
| 6.3.4.5 | G156del |
mutation of the argininosuccinate synthetase gene, found in patients |
703969 |
| 6.3.4.5 | G280R |
mutant G280R has no ASS activity, mutants A192V, R272C, and R304W have low ASS activity and abnormal kinetics. A higher Km for citrulline than in wild-type enzyme is obtained with mutants A192V, R272C, and R304W |
1598 |
| 6.3.4.5 | G324V |
mutation of the argininosuccinate synthetase gene, found in patients |
703969 |
| 6.3.4.5 | G347R |
mutation of the argininosuccinate synthetase gene, found in patients |
703969 |
| 6.3.4.5 | K277T |
mutation of the argininosuccinate synthetase gene, found in patients |
703969 |
