PCDH15 (Protocadherin-15) variants and mutations

PCDH15 (also known as Protocadherin-15) is a human protein-coding gene encoding a protocadherin-15 protein. It forms part of the tip-link complex that converts mechanical deflection of inner-ear hair bundles into electrical signals and also supports photoreceptor structure. Biallelic pathogenic variants cause Usher syndrome type 1F or nonsyndromic hearing loss. This analysis covers 4,468 PCDH15 variants and mutations. Of these, 59% have computational variant effect predictions. Disease context includes Usher syndrome, Usher syndrome type 1, and Usher syndrome type 1F. Example PCDH15 variants include M1V, R3*, and R3P.

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, Interaction Network Analysis, Protein Data Bank, AlphaFold DB, gnomAD constraint, Open Targets, ClinGen, MaveDB, LitVar.

Notable PCDH15 variants

Examples include M1V, R3*, R3P, R3Q, Q4*, Q4H, F5*, F5C. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.