MYH1

Chr 17

myosin heavy chain 1

Also known as: HEL71, MYHSA1, MYHa, MyHC-2X/D, MyHC-2x

NCBI Gene: 4619ENSG00000109061UniProt: P12882

Myosin is a major contractile protein which converts chemical energy into mechanical energy through the hydrolysis of ATP. Myosin is a hexameric protein composed of a pair of myosin heavy chains (MYH) and two pairs of nonidentical light chains. Myosin heavy chains are encoded by a multigene family. In mammals at least 10 different myosin heavy chain (MYH) isoforms have been described from striated, smooth, and nonmuscle cells. These isoforms show expression that is spatially and temporally regulated during development. [provided by RefSeq, Jul 2008]

332
ClinVar variants
12
Pathogenic / LP
0.00
pLI score
0
Active trials
Clinical Summary— MYH1
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
12 Pathogenic / Likely Pathogenic· 308 VUS of 332 total submissions

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?LOEUF (Loss-of-function Observed/Expected Upper bound Fraction) is the upper bound of the 90% CI for LoF OE — the preferred gnomAD v4 metric. Lower = more intolerant to LoF. LOEUF < 0.35 = highly constrained.
1.08LOEUF
pLI 0.000
Z-score 0.85
OE 0.91 (0.77–1.08)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?Missense Z-score: standard deviations fewer missense variants observed vs. expected. Z > 3.09 (p < 0.001) = gene does not tolerate missense variation. OE missense < 0.6 is also considered constrained.
0.04Z-score
OE missense 1.00 (0.95–1.05)
1027 obs / 1030.2 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?Shaded band = 90% confidence interval. Vertical tick = point estimate. Grey threshold line = gnomAD constraint cutoff for that variant class.
LoF OE?Ratio of observed to expected LoF variants. Upper CI bound (LOEUF) ≤ 0.35 = strong LoF constraint signal.0.91 (0.77–1.08)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.1.00 (0.95–1.05)
0≤0.61.4
Synonymous OE?Control metric — synonymous variants are largely neutral and expected near OE = 1.0. Significant deviation may indicate annotation issues.1.11
0≤1.21.6
LoF obs/exp: 91 / 100.2Missense obs/exp: 1027 / 1030.2Syn Z: -1.73

ClinVar Variant Classifications

332 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic12
VUS308
Likely Benign10
Benign1
Conflicting1
12
Pathogenic
308
VUS
10
Likely Benign
1
Benign
1
Conflicting

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
12
0
12
Likely Pathogenic
0
0
0
0
0
VUS
0
292
14
2
308
Likely Benign
1
5
1
3
10
Benign
0
0
0
1
1
Conflicting
—1
Total1297276332

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

MYH1 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

OMIM — Genotype-Phenotype Relationships

1 OMIM entry

OMIM
Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
Research into the characteristic molecules significantly affecting liver cancer immunotherapy.
Chen J et al.·Front Immunol
2023
CCDC78: Unveiling the Function of a Novel Gene Associated with Hereditary Myopathy.
Lopergolo D et al.·Cells
2024
Prevalence of clinical signs and factors impacting expression of myosin heavy chain myopathy in Quarter Horse-related breeds with the MYH1(E321G) mutation.
Valberg SJ et al.·J Vet Intern Med
2022
MYH1 is a candidate gene for recurrent rhabdomyolysis in humans.
Alsaif HS et al.·Am J Med Genet A
2021Case report
Recent advances in our understanding of genetic rhabdomyolysis.
Cabrera-Serrano M et al.·Curr Opin Neurol
2022Review
IGF1 promotes human myotube differentiation toward a mature metabolic and contractile phenotype.
Dreher SI et al.·Am J Physiol Cell Physiol
2024
Proteome analysis reveals paraspinal muscle fiber type changes in patients with degenerative lumbar scoliosis.
Kiram A et al.·Spine J
2025Cohort
Genetic Factors Involved in Mandibular Prognathism.
Doraczynska-Kowalik A et al.·J Craniofac Surg
2017Review
A Homozygous MYH1 Variant Underlies Autosomal Recessive Isolated Recurrent Rhabdomyolysis.
Uctepe E et al.·Am J Med Genet A
2025Case report
Screening of hub genes and immunocytes related to tendon injury based on bioinformatics and machine learning models.
Sun S et al.·Sci Rep
2025Functional
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools