N115Y (p.Asn115Tyr) variant of IDS (Iduronate 2-sulfatase)
N115Y (p.Asn115Tyr) 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.
N115Y (p.Asn115Tyr) variant details
- p.Asn115Tyr
- UniProt VAR 007332
- Pathogenic
- Mucopolysaccharidosis, MPS-II
- Missense
- ClinVar: Pathogenic (Mucopolysaccharidosis, MPS-II)
- EBI: Pathogenic (in MPS2)
- UniProt: Pathogenic (in MPS2)
- Structural context available
- Cited in: Mutation analysis in 57 unrelated patients with MPS II (Hunter's disease). (PMID 9875019)
- Cited in: Detection of four novel mutations in the iduronate-2-sulfatase gene. Mutations in brief no. 123. Online. (PMID 10215411)