R619G (p.Arg619Gly) variant of IDUA (Alpha-L-iduronidase)
R619G (p.Arg619Gly) 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 Mucopolysaccharidosis type 1. The record also includes published literature and structural context.
R619G (p.Arg619Gly) variant details
- p.Arg619Gly
- rs121965031
- ClinGen CA256125
- ClinVar RCV000012699
- ClinVar RCV000666715
- Pathogenic/Likely pathogenic
- Mucopolysaccharidosis type 1
- Missense
- ClinVar: Pathogenic/Likely pathogenic (Mucopolysaccharidosis type 1)
- EBI: Pathogenic (in MPS1H/S)
- UniProt: Pathogenic (in MPS1H/S)
- Structural context available
- Cited in: Mucopolysaccharidosis type I: characterization of novel mutations affecting alpha-L-iduronidase activity. (PMID 10466419)
- Cited in: Mucopolysaccharidosis Type I. (PMID 20301341)