TOR3A

Chr 1

torsin family 3 member A

Also known as: ADIR, ADIR2

NCBI Gene: 64222 ENSG00000186283 UniProt: Q9H497 OMIM: 607555

Enables ATP hydrolysis activity. Located in endoplasmic reticulum lumen. [provided by Alliance of Genome Resources, Jul 2025]

OMIM Research

Enables ATP hydrolysis activity. Located in endoplasmic reticulum lumen. [provided by Alliance of Genome Resources, Jul 2025]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.63

LOEUF

Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

1.63LOEUF

pLI 0.000

Z-score -0.36

OE 1.10 (0.75–1.63)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

0.12Z-score

OE missense 0.98 (0.87–1.10)

204 obs / 208.9 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?1.10 (0.75–1.63)

0≤0.351.4

Missense OE?0.98 (0.87–1.10)

0≤0.61.4

Synonymous OE?1.09

0≤1.21.6

LoF obs/exp: 17 / 15.5Missense obs/exp: 204 / 208.9Syn Z: -0.67

Background carrier burden — how many people carry a rare variant somewhere in TOR3A?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 110

590 rare PASS variants

Rare truncating (LoF)

1 in 410

152 rare PASS variants

Rare synonymous (reference)

1 in 160

255 rare PASS variants

Rare missense and truncating variants are carried at similar rates in TOR3A; this gene does not show strong loss-of-function constraint by this measure. A background rate for each class, not the frequency of any particular variant; thin-coverage exons undercount.

By genetic ancestry · 9 gnomAD groups · rare = under 0.1% in that group

Group	People	Missense	Truncating
European (non-Finnish)	~556k	1 in 130	1 in 640
South Asian	~43k	1 in 110	1 in 560
Remaining (unassigned)	~30k	1 in 63	1 in 320
European (Finnish)	~27k	1 in 290	1 in 1,700
Admixed American	~22k	1 in 75	1 in 830
African / African American	~21k	1 in 67	1 in 490
East Asian	~20k	1 in 110	1 in 520
Ashkenazi Jewish	~13k	1 in 410	none seen
Middle Eastern	~2,884	1 in 84	≈ 1 in 1,400

Each group is summed over the variants that are rare in that group. Grey ≈ figures rest on fewer than five expected carriers — too few to distinguish groups. Differences mostly reflect how many people were sampled and how much variation each ancestry carries, not disease risk.

Exome coverage (gnomAD): 5 of 6 coding exons well covered in gnomAD exomes; exon 2 marginal. Genomes: all 6.? see exons ↓