G336E (p.Gly336Glu) variant of IDS (Iduronate 2-sulfatase)
G336E (p.Gly336Glu) 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.
G336E (p.Gly336Glu) variant details
- p.Gly336Glu
- rs2520785646
- ClinGen CA414519044
- ClinVar RCV003509084
- UniProt VAR 026950
- 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: Identification of iduronate sulfatase gene alterations in 70 unrelated Hunter patients. (PMID 9660053)
- Cited in: Mucopolysaccharidosis Type II. (PMID 20301451)