EC Number   |
Protein Variants |
Reference |
|---|
   3.1.6.1 | C51A |
mutant with strongly reduced activity |
692779 |
| 3.1.6.1 | C51S |
mutant with strongly reduced activity |
692779 |
| 3.1.6.1 | C80A |
about 20% of wild-type activity at neutral pH, about 5% of wild-type activity at pH optimum |
730022 |
| 3.1.6.1 | G137A |
the mutation is associated with X-linked recessive chondrodysplasia punctata |
690330 |
| 3.1.6.1 | H260L |
mutant displays increased thermostability and increased half-life at 55°C |
750842 |
| 3.1.6.1 | I40S |
the mutation is associated with X-linked recessive chondrodysplasia punctata |
690330 |
| 3.1.6.1 | K253H/H260L |
7.7fold increase in half-life compared to wild-type |
750779 |
| 3.1.6.1 | K253N |
mutant shows enhanced thermal stability |
750779 |
| 3.1.6.1 | M72Q |
2fold increase in activity compared with starting mutant G138S |
749618 |
| 3.1.6.1 | more |
intracerebral injection of a serotype 5 adeno-associated vector, AAV2-5, encoding human ARSA in ARSA-deficient mice corrects the biochemical, neuropathological and behavioral abnormalities. Injection in the right hemisphere and into three selected areas of the centrum semiovale white matter, or in the deep gray matter nuclei, caudate nucleus, putamen, thalamus, of six non-human primates, Macaca fascicularis, to evaluate vector distribution, as well as expression and activity of human ARSA, overview. ARSA enzyme is expressed in multiple interconnected brain areas and ARSA activity is increased by 12-38% in a brain volume that corresponded to 5065% of injected hemisphere |
708658 |
