R95G (p.Arg95Gly) variant of IDS (Iduronate 2-sulfatase)
R95G (p.Arg95Gly) 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 not provided; Mucopolysaccharidosis, MPS-II. The record also includes published literature and structural context.
R95G (p.Arg95Gly) variant details
- p.Arg95Gly
- UniProt VAR 026922
- Pathogenic/Likely pathogenic
- not provided; Mucopolysaccharidosis, MPS-II
- Missense
- ClinVar: Pathogenic/Likely pathogenic (not provided; Mucopolysaccharidosis, MPS-II)
- EBI: Pathogenic (in MPS2)
- UniProt: Pathogenic (in MPS2)
- Structural context available
- Cited in: Mutation analysis in 20 patients with Hunter disease. (PMID 8664909)
- Cited in: Detection of four novel mutations in the iduronate-2-sulfatase gene. Mutations in brief no. 123. Online. (PMID 10215411)