MYO7A (Unconventional myosin-VIIa) variants and mutations

MYO7A (also known as Unconventional myosin-VIIa) is a human protein-coding gene encoding an unconventional myosin-VIIa protein. Its actin-based motor supports stereocilia organization in inner-ear hair cells and transport processes in retinal cells. Biallelic pathogenic variants cause Usher syndrome type 1B, while other alleles can cause nonsyndromic hearing loss. This analysis covers 3,392 MYO7A variants and mutations. Of these, 78% have computational variant effect predictions. Disease context includes Usher syndrome type 1B, autosomal recessive nonsyndromic hearing loss 2, and Usher syndrome. Example MYO7A variants include M1I, M1V, and V2L.

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 MYO7A variants

Examples include M1I, M1V, V2L, V2M, V2E, V2A, I3M, I3I. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.