R621P (p.Arg621Pro) variant of IDUA (Alpha-L-iduronidase)
R621P (p.Arg621Pro) in IDUA (Alpha-L-iduronidase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Hurler syndrome; Mucopolysaccharidosis type 1. The record also includes published literature and structural context.
R621P (p.Arg621Pro) variant details
- p.Arg621Pro
- rs762399936
- ClinGen CA355965939
- ClinVar RCV001341748
- ClinVar RCV006466566
- Pathogenic/Likely pathogenic
- Hurler syndrome; Mucopolysaccharidosis type 1
- Missense
- ClinVar: Pathogenic/Likely pathogenic (Hurler syndrome; Mucopolysaccharidosis type 1)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Mucopolysaccharidosis Type I. (PMID 20301341)