IDUA (Alpha-L-iduronidase) variants and mutations

IDUA (also known as Alpha-L-iduronidase) is a human protein-coding gene encoding an alpha-L-iduronidase protein. It removes terminal alpha-L-iduronic acid residues during lysosomal degradation of dermatan and heparan sulfate. Biallelic loss-of-function variants cause mucopolysaccharidosis type I, spanning severe Hurler syndrome to attenuated Scheie-spectrum disease. This analysis covers 1,469 IDUA variants and mutations. Of these, 79% have computational variant effect predictions. Disease context includes Hurler syndrome, Scheie syndrome, and Hurler-Scheie syndrome. Example IDUA variants include M1I, M1?, and M1L.

Variant analysis overview

Variant and mutation evidence

Clinical, disease, and population context

Protein structure and variant hotspots

Data sources

Evidence in this analysis draws on EBI Proteins Variation, UniProt, gnomAD v4, EuropePMC, 3D Hotspot Analysis, Interaction Network Analysis, Protein Data Bank, AlphaFold DB, gnomAD constraint, Open Targets, ClinGen, MaveDB, LitVar.

Notable IDUA variants

Examples include M1I, M1?, M1L, M1T, M1V, R2H, R2P, R2S. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.