Annotation Detail
Information
- Associated Genes
- ARSA
- Associated Variants
-
ARSA p.Gly101Val (p.G101V)
(
ENST00000216124.10,
ENST00000356098.9,
ENST00000395619.3,
ENST00000395621.7,
ENST00000453344.6 )
ARSA p.Gly101Asp (p.G101D) ( ENST00000216124.10, ENST00000395621.7, ENST00000356098.9, ENST00000453344.6, ENST00000395619.3 )
ARSA p.Gly101Val (p.G101V) ( ENST00000216124.10, ENST00000356098.9, ENST00000395619.3, ENST00000395621.7, ENST00000453344.6 )
ARSA p.Gly101Asp (p.G101D) ( ENST00000356098.9, ENST00000395619.3, ENST00000216124.10, ENST00000395621.7, ENST00000453344.6 ) - Associated Disease
- Leukodystrophy, Metachromatic
- Source Database
- DisGeNET
- Description
- In a transient expression study, COS cells transfected with the mutant cDNA carrying 99Gly----Asp did not show an increase of ASA activity, which confirms that the mutation is a cause of adult-type MLD.
- Pubmed
- 1673291
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.514051056554323
- Year of publication
- 1991
Drugs