A79E (p.Ala79Glu) variant of IDS (Iduronate 2-sulfatase)
A79E (p.Ala79Glu) in IDS (Iduronate 2-sulfatase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Mucopolysaccharidosis, MPS-II. The record also includes published literature and structural context.
A79E (p.Ala79Glu) variant details
- p.Ala79Glu
- UniProt VAR 007318
- Likely pathogenic
- Mucopolysaccharidosis, MPS-II
- Missense
- ClinVar: Likely pathogenic (Mucopolysaccharidosis, MPS-II)
- EBI: Pathogenic (in MPS2)
- UniProt: Pathogenic (in MPS2)
- Structural context available
- Cited in: Mutational spectrum of the iduronate-2-sulfatase (IDS) gene in 36 unrelated Russian MPS II patients. (PMID 9921913)
- Cited in: Detection of four novel mutations in the iduronate-2-sulfatase gene. Mutations in brief no. 123. Online. (PMID 10215411)