ACTA1
Chr 1ADARactin alpha 1, skeletal muscle
Also known as: ACTA, ASMA, CFTD, CFTD1, CFTDM, CMYO2A, CMYO2B, CMYO2C
The protein is an alpha actin that forms the major constituent of the contractile apparatus in skeletal muscle. Mutations cause various congenital myopathies including nemaline myopathy, congenital myopathy with excess thin myofilaments, and congenital myopathy with fiber-type disproportion, which manifest as hypotonia and muscle fiber defects. Inheritance is autosomal dominant or autosomal recessive, with pathogenicity likely resulting from dominant-negative effects.
Definitive — sufficient evidence for diagnostic panels
2 total gene-disease associations curated
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Highly missense-constrained (top ~0.1%)
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
665 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 | 18 | 87 | 34 | 0 | 139 |
Likely Pathogenic | 18 | 108 | 4 | 0 | 130 |
VUS | 4 | 164 | 28 | 7 | 203 |
Likely Benign | 0 | 0 | 67 | 82 | 149 |
Benign | 0 | 0 | 18 | 0 | 18 |
Conflicting | — | 24 | |||
| Total | 40 | 359 | 151 | 89 | 663 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
ACTA1 · 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
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools