MYO7A
Chr 11ADARmyosin VIIA
Also known as: DFNA11, DFNB2, MYOVIIA, MYU7A, NSRD2, USH1B
This unconventional myosin functions as an actin-based motor protein with ATPase activity that plays critical roles in retinal photoreceptor disk renewal, melanosome distribution in retinal pigment epithelium, and cochlear hair cell bundle organization and mechanotransduction. Mutations cause Usher syndrome type 1B, characterized by congenital severe-to-profound sensorineural hearing loss, vestibular dysfunction, and progressive retinal degeneration leading to blindness, with autosomal recessive inheritance. The gene shows extremely low tolerance to loss-of-function variants (pLI approaching 1), indicating that even heterozygous loss-of-function is likely deleterious.
Definitive — sufficient evidence for diagnostic panels
2 total gene-disease associations curated
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.
The Badonyi & Marsh prediction model was trained exclusively on dominant disease genes. Predictions are not reliable for genes with autosomal recessive inheritance and are shown at reduced opacity for reference only.
Literature Evidence
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
MYO7A · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
Study of Subretinally Injected AAVB-081 in Patients With Usher Syndrome Type IB (USH1B) Retinitis Pigmentosa
RECRUITINGNatural History of Photoreceptor Degeneration in USH1B: Clinical Parameters and Validation of Functional Vision Tests in MYO7A
RECRUITINGExternal Resources
Links to major genomics databases and tools