S71R (p.Ser71Arg) variant of IDS (Iduronate 2-sulfatase)
S71R (p.Ser71Arg) 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 Inborn genetic diseases; Mucopolysaccharidosis, MPS-II. The record also includes published literature and structural context.
S71R (p.Ser71Arg) variant details
- p.Ser71Arg
- rs2520900915
- ClinGen CA414527303
- ClinVar RCV002430502
- ClinVar RCV004596551
- Likely pathogenic
- Inborn genetic diseases; Mucopolysaccharidosis, MPS-II
- Missense
- ClinVar: Likely pathogenic (Mucopolysaccharidosis, MPS-II)
- EBI: Pathogenic (in MPS2)
- UniProt: Pathogenic (in MPS2)
- Structural context available
- Cited in: Molecular basis of iduronate-2-sulphatase gene mutations in patients with mucopolysaccharidosis type II (Hunter… (PMID 9950361)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)