IDS (Iduronate 2-sulfatase) variants and mutations

IDS (also known as Iduronate 2-sulfatase) is a human protein-coding gene encoding an iduronate 2-sulfatase protein. It removes sulfate groups from iduronate-containing glycosaminoglycans during lysosomal degradation. Loss-of-function variants cause X-linked Hunter syndrome, with progressive accumulation of dermatan and heparan sulfate affecting multiple organs and, in severe disease, the nervous system. This analysis covers 897 IDS variants and mutations. Of these, 71% have computational variant effect predictions. Disease context includes mucopolysaccharidosis type 2, hereditary disease, and mucopolysaccharidosis. Example IDS variants include M1T, P2T, and P3L.

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 IDS variants

Examples include M1T, P2T, P3L, P4L, P4R, P4T, R5G, R5L. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.