G340D (p.Gly340Asp) variant of IDS (Iduronate 2-sulfatase)
G340D (p.Gly340Asp) in IDS (Iduronate 2-sulfatase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Mucopolysaccharidosis, MPS-II. The record also includes published literature and structural context.
G340D (p.Gly340Asp) variant details
- p.Gly340Asp
- rs2520785446
- ClinGen CA414519019
- ClinVar RCV003509083
- UniProt VAR 007362
- Pathogenic
- Mucopolysaccharidosis, MPS-II
- Missense
- ClinVar: 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: Mucopolysaccharidosis Type II. (PMID 20301451)