MYH11
Chr 16ADARmyosin heavy chain 11
Also known as: AAT4, FAA4, SMHC, SMMHC, SMMS-1, VSCM2
MYH11 encodes smooth muscle myosin heavy chain, which converts chemical energy to mechanical energy through ATP hydrolysis to enable smooth muscle contraction. Mutations cause autosomal dominant familial thoracic aortic aneurysm or autosomal recessive visceral myopathy and megacystis-microcolon-intestinal hypoperistalsis syndrome, affecting vascular and gastrointestinal smooth muscle function. The gene is highly constrained against loss-of-function variants (LOEUF 0.305), reflecting its essential role in smooth muscle contractility.
Limited evidence — not for standalone diagnostic reporting
2 total gene-disease associations curated
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly LoF-intolerant (top ~10% of genes)
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
100 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 0 | 0 | 0 | 0 | 0 |
Likely Pathogenic | 0 | 0 | 0 | 0 | 0 |
VUS | 6 | 52 | 8 | 2 | 68 |
Likely Benign | 0 | 0 | 10 | 22 | 32 |
Benign | 0 | 0 | 0 | 0 | 0 |
| Total | 6 | 52 | 18 | 24 | 100 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
MYH11 · 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
A New Treatment of Newly Diagnosed KIT Mutation CBF-Acute Myeloid Leukemia
RECRUITINGClinical Study of Induction Therapy Options Based on Molecular Subtyping and MRD in Children and Adolescents With AML
RECRUITINGInterferon-alpha As Maintenance Therapy for Favorable-risk Acute Myeloid Leukemia
RECRUITINGStudy of A Venetoclax-based, Anthracycline-free Regimen in Newly Diagnosed CBFβ::MYH11(+) AML
RECRUITINGMITAORTA - Role of Mitochondrial Dynamic in Aneurysm and Dissection of Ascending Thoracic Aorta
ACTIVE NOT RECRUITINGExternal Resources
Links to major genomics databases and tools