OTOF (Otoferlin) variants and mutations

OTOF (also known as Otoferlin) is a human protein-coding gene encoding an otoferlin protein. It couples calcium entry to synaptic-vesicle fusion at inner hair-cell ribbon synapses, enabling rapid transmission of acoustic signals to the auditory nerve. Biallelic loss-of-function variants cause DFNB9 auditory neuropathy or nonsyndromic sensorineural hearing loss. This analysis covers 2,968 OTOF variants and mutations. Of these, 78% have computational variant effect predictions. Disease context includes autosomal recessive nonsyndromic hearing loss 9, hearing loss, autosomal recessive, and deafness. Example OTOF variants include A2T, A2V, and L3F.

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 OTOF variants

Examples include A2T, A2V, L3F, L3S, L4F, I5F, I5M, I5V. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.