TOR1A

Chr 9

torsin family 1 member A

Also known as: AMC5, DQ2, DYT1

NCBI Gene: 1861ENSG00000136827UniProt: O14656

The protein encoded by this gene is a member of the AAA family of adenosine triphosphatases (ATPases), is related to the Clp protease/heat shock family and is expressed prominently in the substantia nigra pars compacta. Mutations in this gene result in the autosomal dominant disorder, torsion dystonia 1. [provided by RefSeq, Jul 2008]

GeneReviewsResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtDystonia 1, torsion, autosomal dominant
UniProtArthrogryposis multiplex congenita 5

Clinical highlights

Interpreting a novel variant
Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.
1
Active trials
24
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.06
LOEUF
LOF
Mechanism· G2P
📖
GeneReview available — TOR1A
Authoritative clinical overview · Recommended first read
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Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.06LOEUF
pLI 0.001
Z-score 1.43
OE 0.56 (0.32–1.06)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.54Z-score
OE missense 0.89 (0.78–1.01)
160 obs / 180.2 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.56 (0.32–1.06)
0≤0.351.4
Missense OE?0.89 (0.78–1.01)
0≤0.61.4
Synonymous OE?1.01
0≤1.21.6
LoF obs/exp: 7 / 12.4Missense obs/exp: 160 / 180.2Syn Z: -0.09

ClinVar Variant Classifications

0 submitted variants in ClinVar

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.

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients