TECTA (Alpha-tectorin) variants and mutations

TECTA (also known as Alpha-tectorin) is a human protein-coding gene encoding an alpha-tectorin protein. Its extracellular matrix organizes the tectorial membrane that mechanically couples sound-induced motion to cochlear hair cells. Dominant or recessive pathogenic variants cause nonsyndromic hearing loss, with characteristic frequency patterns depending on the affected region. This analysis covers 3,257 TECTA variants and mutations. Of these, 68% have computational variant effect predictions. Disease context includes autosomal dominant nonsyndromic hearing loss, hearing loss, autosomal recessive, and nonsyndromic genetic hearing loss. Example TECTA variants include M1?, N2K, and Y3*.

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 TECTA variants

Examples include M1?, N2K, Y3*, Y3D, Y3N, S5L, S5S, R8K. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.