MYO6 (Unconventional myosin-VI) variants and mutations
MYO6 (also known as Unconventional myosin-VI) is a human protein-coding gene encoding an unconventional myosin-VI protein. A reverse-direction actin motor involved in intracellular transport and organization of hair-cell stereocilia. Variants can cause inherited hearing loss. This analysis covers 3 MYO6 variants and mutations. Of these, 100% have computational variant effect predictions. Disease context includes progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome, autosomal dominant nonsyndromic hearing loss, and hearing loss, autosomal recessive. Example MYO6 variants include E216V, H246R, and C442Y.
Variant analysis overview
- Gene: MYO6
- Protein: Unconventional myosin-VI
- UniProt accession: Q9UM54
- Organism: Homo sapiens
- Variants analyzed: 3
- Variant scope: all variants
- Completed: 2026-10-09
Variant and mutation evidence
- Variant composition: 3 unspecified-consequence records
- Prediction scores: 3 variants have prediction scores (100% of the analyzed set).
Clinical, disease, and population context
- Disease context: 25 disease associations are represented. Top associations: progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome, autosomal dominant nonsyndromic hearing loss, hearing loss, autosomal recessive, nonsyndromic genetic hearing loss, hearing loss disorder, Rare genetic deafness, hereditary disease, deafness, prostate carcinoma, Hearing impairment, atrial fibrillation, presbycusis.
Protein structure and variant hotspots
- Protein features: 3 domains; 1 binding sites; 5 post-translational modification sites.
- Structural context: 3 variants have structural context.
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.
Diseases linked to MYO6
Notable MYO6 variants
Examples include E216V, H246R, C442Y. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.
- E216V (p.Glu216Val), rs121912559, UniProt VAR 016209, REVEL 0.73, ESM-1b 1.00, Conflicting interpretations, Autosomal dominant nonsyndromic hearing loss 22; not provided
- H246R (p.His246Arg), rs121912560, UniProt VAR 029988, REVEL 0.93, ESM-1b 1.00, Pathogenic/Likely pathogenic, MYO6-related disorder; Monogenic hearing loss; Rare genetic deafness
- C442Y (p.Cys442Tyr), UniProt VAR 012110, ESM-1b 1.00, AlphaMissense 0.91, Pathogenic, Autosomal dominant nonsyndromic hearing loss 22
Public MYO6 analysis runs
- MYO6 analysis run — MYO6 (3 variants) — completed 2026-10-09