Annotation Detail
Information
- Associated Genes
- ARSA
- Associated Variants
-
ARSA p.Pro428Leu (p.P428L)
(
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 )
ARSA p.Pro428Leu (p.P428L) ( 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
- Metachromatic Leukodystrophy, Adult-Type (disorder)
- Source Database
- DisGeNET
- Description
- P426L and I179S are the two most frequent mutations in juvenile and adult metachromatic leukodystrophy (late-onset MLD), which, in contrast to infantile MLD, show marked phenotypic heterogeneity.
- Pubmed
- 16966551
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.241085767488321
- Year of publication
- 2006
Drugs