R489P (p.Arg489Pro) variant of IDUA (Alpha-L-iduronidase)
R489P (p.Arg489Pro) in IDUA (Alpha-L-iduronidase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Hurler syndrome; Mucopolysaccharidosis type 1. The record also includes published literature and structural context.
R489P (p.Arg489Pro) variant details
- p.Arg489Pro
- rs1416328981
- ClinGen CA355964650
- ClinVar RCV002041304
- gnomAD rs1416328981
- Likely pathogenic
- Hurler syndrome; Mucopolysaccharidosis type 1
- Missense
- ClinVar: Likely pathogenic (Mucopolysaccharidosis type 1)
- EBI: Pathogenic (in MPS1H)
- UniProt: Pathogenic (in MPS1H)
- Structural context available
- Cited in: Mucopolysaccharidosis type I: identification of 8 novel mutations and determination of the frequency of the two common… (PMID 7951228)
- Cited in: Mucopolysaccharidosis Type I. (PMID 20301341)