EC Number   |
Protein Variants |
Reference |
|---|
   3.1.6.8 | A212P |
naturally occuring ARSA polymorphism, causes a severe peripheral neuropathy phenotype |
708662 |
| 3.1.6.8 | A96G |
mutation contributes to enzyme activity reduction |
651448 |
| 3.1.6.8 | C168stop |
naturally occuring ARSA polymorphism, causes a severe peripheral neuropathy phenotype |
708662 |
| 3.1.6.8 | C300F |
the sequence alteration is found in a patient with metachromatic leukodystrophy, the mutant strongly interferes with the octamerization process of enzyme but not with its dimerization capacity |
649289 |
| 3.1.6.8 | C493F |
mutant shows 0.7% of wild type ARSA activity |
691881 |
| 3.1.6.8 | C500F |
about 8% reduction of enzyme activity in comparison to wild-type enzyme |
653357 |
| 3.1.6.8 | C500F |
about 8% reduction of enzyme activity in comparison to wild-type enzyme. Mutation found in a patient with metachromatic leukodystrophy |
653357 |
| 3.1.6.8 | C69A |
site-directed mutagenesis, the mnutant shows abolished enzyme activity and only residual binding to thr sulfoglycolipid substrate |
708623 |
| 3.1.6.8 | C69A |
The inactive mutant in complex with p-nitrocatechol sulfate mimics a reaction intermediate during sulfate ester hydrolysis by the active enzyme, without the covalent bond to the key side-chain C-alpha-formylglycine |
652841 |
| 3.1.6.8 | C69A/K123A/K302A |
site-directed mutagenesis, the mutant shows abolished substrate binding and activity |
708623 |
