MYH7 (Myosin-7) variants and mutations

MYH7 (also known as Myosin-7) is a human protein-coding gene encoding a myosin-7 protein. Its beta-myosin motor converts ATP hydrolysis into force within cardiac and slow-skeletal-muscle sarcomeres. Pathogenic variants are major causes of hypertrophic and dilated cardiomyopathy and can also produce inherited skeletal myopathies. This analysis covers 3,775 MYH7 variants and mutations. Of these, 22% have pathogenic or likely pathogenic clinical classifications, 77% have computational variant effect predictions from REVEL and MutPred, and 42% have population-specific frequency data. Disease context includes hypertrophic cardiomyopathy, congenital myopathy 7A, myosin storage, autosomal dominant, and left ventricular noncompaction. Example MYH7 variants include M1T, M1V, and G2E.

Variant analysis overview

Gene: MYH7
Protein: Myosin-7
UniProt accession: P12883
Organism: Homo sapiens
Variants analyzed: 3775
Variant scope: all variants
Completed: 2026-08-09

Variant and mutation evidence

Variant composition: 3,563 unspecified-consequence records; 1 stop retained variant; 5 in-frame deletions; 1 stop lost; 78 missense variants; 101 synonymous variants; 8 splice-region variants; 11 frameshift variants; 4 stop-gained variants; 3 substitution
Clinical classifications: 829 pathogenic or likely pathogenic; 195 benign or likely benign; 1,880 uncertain-significance; 4 conflicting; 298 other clinical labels.
Computational signals: 676 REVEL high-risk; 434 MutPred high-risk.
Variant classes: 3,512 missense; 101 synonymous; 159 truncating or splice.
Prediction scores: 2,911 variants have prediction scores (77% of the analyzed set).
Literature: 29 publications are represented in the literature summary.

Clinical, disease, and population context

Clinical evidence: 191 records have expert-only or criteria-backed evidence.
Clinical annotations: 3,206 variants have clinical annotations.
Population evidence: 1,729 variants have population-frequency evidence.
Disease context: 25 disease associations are represented. Top associations: hypertrophic cardiomyopathy, congenital myopathy 7A, myosin storage, autosomal dominant, left ventricular noncompaction, hypertrophic cardiomyopathy 1, cardiomyopathy, dilated cardiomyopathy, Rare familial disorder with hypertrophic cardiomyopathy, Abnormality of the cardiovascular system, familial hypertrophic cardiomyopathy, scapuloperoneal myopathy, restrictive cardiomyopathy, CMH1.

Protein structure and variant hotspots

Protein features: 3 domains; 1 binding sites; 9 post-translational modification sites.
Ancestry evidence: 1,598 variants have ancestry-specific frequency data.
Structural context: 1,457 variants have structural context.
PTM context: 7 variants overlap post-translational modification sites.
3D hotspots: 4 hotspot clusters were identified. Clusters at residues 17-701 (mixed, 45 variants); residues 10-771 (intolerant, 13 variants); residues 161-712 (mixed, 16 variants).
Allosteric analysis: 4 functional sites were identified.
gnomAD gene constraint: pLI 0.00 (tolerant of loss-of-function variation); LOEUF 0.57; missense Z-score 7.38.

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 MYH7 variants

Examples include M1T, M1V, G2E, D3A, D3E, S4L, S4P, S4T. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.

MYH7 analysis run — MYH7 (3,775 variants) — completed 2026-08-09