EC Number   |
Protein Variants |
Reference |
|---|
   3.5.1.15 | A305E |
10% activity compared to native enzyme form, mutation responsible for the Canavan disease |
755390 |
| 3.5.1.15 | A305E |
Canavan disease mutation, undetectable enzyme activity |
678979 |
| 3.5.1.15 | A57T |
Canavan disease mutation, undetectable enzyme activity |
678979 |
| 3.5.1.15 | C152R |
0.5% activity compared to native enzyme form, the stabilities against denaturation induced by heating and by a 1 M urea solution (conformational stability) are considerably lower for the mutant than for native form of the enzyme, mutation responsible for the Canavan disease |
755390 |
| 3.5.1.15 | C152W |
1% activity compared to native enzyme form, the stabilities against denaturation induced by heating and by a 1 M urea solution (conformational stability) are considerably lower for the mutant than for native form of the enzyme, mutation responsible for the Canavan disease |
755390 |
| 3.5.1.15 | C152W |
Canavan disease mutation, undetectable enzyme activity |
678979 |
| 3.5.1.15 | D249V |
Canavan disease mutation, undetectable enzyme activity |
678979 |
| 3.5.1.15 | D68A |
Canavan disease mutation, undetectable enzyme activity |
678979 |
| 3.5.1.15 | E178A |
undetectable ASPA activity |
678979 |
| 3.5.1.15 | E178D |
10% activity of native enzyme |
678338 |
