D315Y (p.Asp315Tyr) variant of IDUA (Alpha-L-iduronidase)
D315Y (p.Asp315Tyr) 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. The record also includes published literature and structural context.
D315Y (p.Asp315Tyr) variant details
- p.Asp315Tyr
- UniProt VAR 003360
- Likely pathogenic
- 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 in 21 Czech and Slovak patients: mutation analysis suggests a functional importance of… (PMID 19396826)
- Cited in: Mucopolysaccharidosis type I: characterization of novel mutations affecting alpha-L-iduronidase activity. (PMID 10466419)