H335R (p.His335Arg) variant of IDS (Iduronate 2-sulfatase)
H335R (p.His335Arg) 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.
H335R (p.His335Arg) variant details
- p.His335Arg
- rs2520811436
- ClinGen CA414519820
- ClinVar RCV003066392
- ClinVar RCV004700920
- 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: Identification of iduronate sulfatase gene alterations in 70 unrelated Hunter patients. (PMID 9660053)
- Cited in: Mucopolysaccharidosis Type II. (PMID 20301451)