T366P (p.Thr366Pro) variant of IDUA (Alpha-L-iduronidase)
T366P (p.Thr366Pro) in IDUA (Alpha-L-iduronidase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Hurler syndrome. The record also includes published literature and structural context.
T366P (p.Thr366Pro) variant details
- p.Thr366Pro
- rs121965024
- ClinGen CA256117
- ClinVar RCV000012691
- UniProt VAR 003365
- Pathogenic
- Hurler syndrome
- Missense
- ClinVar: Pathogenic (Hurler syndrome)
- EBI: Pathogenic (in MPS1H)
- UniProt: Pathogenic (in MPS1H)
- Structural context available
- Cited in: Molecular analysis of Hurler syndrome in Druze and Muslim Arab patients in Israel: multiple allelic mutations of the… (PMID 8328452)
- Cited in: Mucopolysaccharidosis Type I. (PMID 20301341)