A85S (p.Ala85Ser) variant of IDS (Iduronate 2-sulfatase)
A85S (p.Ala85Ser) 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.
A85S (p.Ala85Ser) variant details
- p.Ala85Ser
- UniProt VAR 026919
- 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: Identification of iduronate sulfatase gene alterations in 70 unrelated Hunter patients. (PMID 9660053)
- Cited in: Detection of four novel mutations in the iduronate-2-sulfatase gene. Mutations in brief no. 123. Online. (PMID 10215411)