R492P (p.Arg492Pro) variant of IDUA (Alpha-L-iduronidase)
R492P (p.Arg492Pro) 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 Mucopolysaccharidosis type 1; Mucopolysaccharidosis, MPS-I-S; Hurler syndrome. The record also includes published literature and structural context.
R492P (p.Arg492Pro) variant details
- p.Arg492Pro
- rs121965026
- ClinGen CA256120
- ClinVar RCV000012693
- ClinVar RCV001781252
- Likely pathogenic
- Mucopolysaccharidosis type 1; Mucopolysaccharidosis, MPS-I-S; Hurler syndrome
- Missense
- ClinVar: Likely pathogenic (Mucopolysaccharidosis type 1; Mucopolysaccharidosis, MPS-I-S; Hu)
- EBI: Pathogenic (in MPS1S)
- UniProt: Pathogenic (in MPS1S)
- Structural context available
- Cited in: IDUA mutational profiling of a cohort of 102 European patients with mucopolysaccharidosis type I: identification and… (PMID 21394825)
- Cited in: Four novel mutations underlying mild or intermediate forms of alpha-L-iduronidase deficiency (MPS IS and MPS IH/S). (PMID 7550232)