L346R (p.Leu346Arg) variant of IDUA (Alpha-L-iduronidase)
L346R (p.Leu346Arg) in IDUA (Alpha-L-iduronidase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Mucopolysaccharidosis type 1. The record also includes population frequency data, published literature, and structural context.
L346R (p.Leu346Arg) variant details
- p.Leu346Arg
- rs121965033
- ClinGen CA256128
- ClinVar RCV000012702
- ClinVar RCV000012703
- Pathogenic
- Mucopolysaccharidosis type 1
- Missense
- ClinVar: Pathogenic (Mucopolysaccharidosis type 1)
- EBI: Pathogenic (in MPS1H/S)
- UniProt: Pathogenic (in MPS1H/S)
- Population evidence available
- Structural context available
- Cited in: Identification and characterization of -3c-g acceptor splice site mutation in human alpha-L-iduronidase associated with… (PMID 10735634)
- Cited in: Mutational analysis of the alpha-L-iduronidase gene in 10 unrelated Korean type I mucopolysaccharidosis patients… (PMID 15521993)