USH2A (Usherin) variants and mutations

USH2A (also known as Usherin) is a human protein-coding gene encoding an usherin protein. It helps organize extracellular and membrane structures required for cochlear hair-cell and photoreceptor function. Biallelic pathogenic variants cause Usher syndrome type 2A or nonsyndromic retinitis pigmentosa and can also produce isolated hearing loss. This analysis covers 8,895 USH2A variants and mutations. Of these, 79% have computational variant effect predictions. Disease context includes Usher syndrome type 2A, retinitis pigmentosa, and Usher syndrome. Example USH2A variants include M1V, N2D, and N2I.

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, AlphaFold DB, gnomAD constraint, Open Targets, ClinGen, MaveDB, LitVar.

Notable USH2A variants

Examples include M1V, N2D, N2I, N2K, N2S, C3G, C3R, C3Y. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.