EC Number   |
Protein Variants |
Reference |
|---|
    4.3.2.1 | E296Q |
retains only 0.001% residual activity |
34447 |
| 4.3.2.1 | E73K |
missense mutation found in patient with neonatal onset of argininosuccinic aciduria, enzyme inactive |
709062 |
| 4.3.2.1 | I100T |
the mutant enzyme decreased enzyme efficiency (61% of wild-type), no significant decrease in Km-value, displays thermal instability |
748357 |
| 4.3.2.1 | I143M |
mutant without enzyme activity |
664119 |
| 4.3.2.1 | K288R |
132% of wild-type activity |
710563 |
| 4.3.2.1 | M360T |
no actiivty, 10% of wild-type activity if coexpressed with Q286R |
650043 |
| 4.3.2.1 | M382R |
missense mutation found in patient with neonatal onset of argininosuccinic aciduria, residual activity |
709062 |
| 4.3.2.1 | M9F/E115D |
mutant with 3.3% enzyme activity |
664119 |
| 4.3.2.1 | M9W |
mutant with 2.0% enzyme activity |
664119 |
| 4.3.2.1 | M9W/E115D |
mutant with 17% enzyme activity |
664119 |
