H229Y (p.His229Tyr) variant of IDS (Iduronate 2-sulfatase)
H229Y (p.His229Tyr) 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 Mucopolysaccharidosis, MPS-II. The record also includes published literature and structural context.
H229Y (p.His229Tyr) variant details
- p.His229Tyr
- rs2520862570
- ClinGen CA414522177
- ClinVar RCV003146137
- UniProt VAR 007354
- Pathogenic/Likely pathogenic
- Mucopolysaccharidosis, MPS-II
- Missense
- ClinVar: Pathogenic/Likely pathogenic (Mucopolysaccharidosis, MPS-II)
- EBI: Pathogenic (in MPS2)
- UniProt: Pathogenic (in MPS2)
- Structural context available
- Cited in: Molecular diagnosis of mucopolysaccharidosis type II (Hunter syndrome) by automated sequencing and computer-assisted… (PMID 7887413)
- Cited in: Mucopolysaccharidosis Type II. (PMID 20301451)