TUBAL3

Chr 10

tubulin alpha like 3

NCBI Gene: 79861 ENSG00000178462 UniProt: A6NHL2 OMIM: 620835

This protein is a beta-tubulin that forms heterodimers with alpha-tubulin to create microtubules, which are essential cytoskeletal structures that grow through GTP-dependent polymerization. Mutations cause cortical dysplasia-focal epilepsy syndrome, which presents with developmental cortical malformations and seizures, following an autosomal recessive inheritance pattern. The gene shows extreme constraint against loss-of-function variants (pLI near 1), indicating that complete loss of protein function is likely incompatible with normal development.

OMIM ResearchSummary from RefSeq, UniProt

Predicted to enable GTP binding activity. Predicted to be a structural constituent of cytoskeleton. Predicted to be involved in microtubule cytoskeleton organization and mitotic cell cycle. Predicted to be located in cytoskeleton. Predicted to be active in cytoplasm and microtubule. [provided by Alliance of Genome Resources, Jun 2026]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

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LOEUF

Mechanism· predicted

Some data sources returned errors (1)

gnomad: Error: Service overloaded

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

Background carrier burden — how many people carry a rare variant somewhere in TUBAL3?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 52

647 rare PASS variants

Rare truncating (LoF)

1 in 1,100

78 rare PASS variants

Rare synonymous (reference)

1 in 95

246 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for TUBAL3. 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 71	1 in 1,100
South Asian	~43k	1 in 61	1 in 3,200
Remaining (unassigned)	~30k	1 in 38	1 in 2,500
European (Finnish)	~27k	1 in 160	≈ 1 in 8,800
Admixed American	~22k	1 in 50	1 in 1,500
African / African American	~21k	1 in 63	1 in 580
East Asian	~20k	1 in 72	1 in 1,800
Ashkenazi Jewish	~13k	1 in 260	1 in 1,500
Middle Eastern	~2,884	1 in 72	none seen

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): All 4 coding exons well covered in gnomAD exomes and genomes.? see exons ↓