R88P (p.Arg88Pro) variant of IDS (Iduronate 2-sulfatase)
R88P (p.Arg88Pro) in IDS (Iduronate 2-sulfatase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Mucopolysaccharidosis, MPS-II. The record also includes published literature and structural context.
R88P (p.Arg88Pro) variant details
- p.Arg88Pro
- UniProt VAR 007327
- Pathogenic
- Mucopolysaccharidosis, MPS-II
- Missense
- ClinVar: Pathogenic (Mucopolysaccharidosis, MPS-II)
- EBI: Pathogenic (in MPS2)
- UniProt: Pathogenic (in MPS2)
- Structural context available
- Cited in: Detection of four novel mutations in the iduronate-2-sulfatase gene. Mutations in brief no. 123. Online. (PMID 10215411)
- Cited in: Expression of five iduronate-2-sulfatase site-directed mutations. (PMID 10838181)