TOR1A
Chr 9torsin family 1 member A
Also known as: AMC5, DQ2, DYT1
The protein is an AAA family ATPase located in the endoplasmic reticulum lumen and expressed prominently in the substantia nigra pars compacta. Mutations cause torsion dystonia 1 (DYT1), which follows autosomal dominant inheritance with reduced penetrance, as well as autosomal recessive arthrogryposis multiplex congenita 5. The pathogenic mechanism involves dominant-negative effects that disrupt normal protein function.
Some data sources returned errors (1)
omim: Error: OMIM fetch failed: 429
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
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
313 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 | 3 | 2 | 31 | 0 | 36 |
Likely Pathogenic | 10 | 1 | 2 | 0 | 13 |
VUS | 9 | 107 | 37 | 2 | 155 |
Likely Benign | 0 | 6 | 23 | 38 | 67 |
Benign | 0 | 1 | 24 | 2 | 27 |
Conflicting | — | 9 | |||
| Total | 22 | 117 | 117 | 42 | 307 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
TOR1A · 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
External Resources
Links to major genomics databases and tools