A82V (p.Ala82Val) variant of IDS (Iduronate 2-sulfatase)
A82V (p.Ala82Val) in IDS (Iduronate 2-sulfatase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Mucopolysaccharidosis, MPS-II. The record also includes published literature and structural context.
A82V (p.Ala82Val) variant details
- p.Ala82Val
- UniProt VAR 026918
- Pathogenic/Likely pathogenic
- Mucopolysaccharidosis, MPS-II
- Missense
- ClinVar: Pathogenic/Likely pathogenic (Mucopolysaccharidosis, MPS-II)
- EBI: Pathogenic (in MPS2)
- UniProt: Pathogenic (in MPS2)
- Structural context available
- Cited in: Multiple cryptic splice sites can be activated by IDS point mutations generating misspliced transcripts. (PMID 16699754)
- Cited in: Detection of four novel mutations in the iduronate-2-sulfatase gene. Mutations in brief no. 123. Online. (PMID 10215411)