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
- Leukodystrophy, Metachromatic
- Source Database
- DisGeNET
- Description
- Our preliminary studies on 43 unrelated Polish patients suffering from different types of metachromatic leukodystrophy (MLD) showed that four mutations in the ARSA gene accounted for 55% of mutated alleles (c.459+1G>A, p.P426L, p.I179S and c.1204+1G>A).
- Pubmed
- 20339381
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.514051056554323
- Year of publication
- 2010
Drugs