EC Number   |
Protein Variants |
Reference |
|---|
   3.1.6.8 | C69S |
present at significantly higher levels in both conditioned media and within the cell when compared with wild type |
663938 |
| 3.1.6.8 | C69S |
the mutant is able to bind covalently to the substrate and hydrolyse it, but is unable to release the resulting sulfate |
652841 |
| 3.1.6.8 | D255H |
inactive misfolded mutant D255H-ASA |
714958 |
| 3.1.6.8 | D335V |
inactive misfolded mutant D335V-ASA |
714958 |
| 3.1.6.8 | D407fs |
naturally occuring ARSA polymorphism, causes a severe peripheral neuropathy phenotype |
708662 |
| 3.1.6.8 | E253K |
mutation contributes to enzyme activity reduction |
651448 |
| 3.1.6.8 | E253K/T391S |
mutations contribute to sum of the enzyme activity reduction ascribed to each mutation |
651448 |
| 3.1.6.8 | E307K |
naturally occuring ARSA polymorphism, causes a mild peripheral neuropathy phenotype |
708662 |
| 3.1.6.8 | E382Q |
complete loss of enzyme activity in comparison to wild-type enzyme in vitro |
653357 |
| 3.1.6.8 | E382Q |
complete loss of enzyme activity in comparison to wild-type enzyme in vitro. Mutation found in a patient with metachromatic leukodystrophy |
653357 |
