S87N (p.Ser87Asn) variant of IDS (Iduronate 2-sulfatase)
S87N (p.Ser87Asn) in IDS (Iduronate 2-sulfatase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Mucopolysaccharidosis, MPS-II. The record also includes published literature and structural context.
S87N (p.Ser87Asn) variant details
- p.Ser87Asn
- UniProt VAR 007323
- Conflicting interpretations
- Mucopolysaccharidosis, MPS-II
- Missense
- ClinVar: Conflicting classifications of pathogenicity (Mucopolysaccharidosis, MPS-II)
- EBI: Pathogenic (in MPS2)
- UniProt: Pathogenic (in MPS2)
- Structural context available
- Cited in: Mutations of the iduronate-2-sulfatase gene in 12 Polish patients with mucopolysaccharidosis type II (Hunter syndrome). (PMID 7728156)
- Cited in: Detection of four novel mutations in the iduronate-2-sulfatase gene. Mutations in brief no. 123. Online. (PMID 10215411)