Annotation Detail
Information
- Associated Genes
- ARSA
- Associated Variants
-
ARSA p.Ile181Ser (p.I181S)
(
ENST00000216124.10,
ENST00000356098.9,
ENST00000395619.3,
ENST00000395621.7,
ENST00000453344.6 )
ARSA p.Ile181Ser (p.I181S) ( ENST00000216124.10, ENST00000356098.9, ENST00000395619.3, ENST00000395621.7, ENST00000453344.6 ) - Associated Disease
- Leukodystrophy, Metachromatic
- Source Database
- DisGeNET
- Description
- It seems that I179S mutation on one allele with another mutation on the other allele reduces ASA activity, but the enzyme can still cope with a part of the substrate influx, leading to late-juvenile-onset MLD with such strikingly similar phenotypes remaining a little bit of the adult (psychiatric) type.
- Pubmed
- 9007312
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.514051056554323
- Year of publication
- 1996
Drugs