T118I (p.Thr118Ile) variant of IDS (Iduronate 2-sulfatase)
T118I (p.Thr118Ile) 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 IDS-related disorder; Mucopolysaccharidosis, MPS-II. The record also includes published literature and structural context.
T118I (p.Thr118Ile) variant details
- p.Thr118Ile
- rs2520895871
- ClinGen CA414526087
- ClinVar RCV003146149
- ClinVar RCV003420582
- Pathogenic/Likely pathogenic
- IDS-related disorder; Mucopolysaccharidosis, MPS-II
- Missense
- ClinVar: Pathogenic/Likely pathogenic (IDS-related disorder; Mucopolysaccharidosis, MPS-II)
- EBI: Pathogenic (in MPS2)
- UniProt: Pathogenic (in MPS2)
- Structural context available
- Cited in: Detection of four novel mutations in the iduronate-2-sulfatase gene. Mutations in brief no. 123. Online. (PMID 10215411)
- Cited in: Expression of five iduronate-2-sulfatase site-directed mutations. (PMID 10838181)