TMOD3

Chr 15

tropomodulin 3

Also known as: UTMOD

NCBI Gene: 29766 ENSG00000138594 UniProt: Q9NYL9 OMIM: 605112

Enables cadherin binding activity involved in cell-cell adhesion. Predicted to be involved in actin filament organization; muscle contraction; and myofibril assembly. Predicted to act upstream of or within actin cytoskeleton organization; erythrocyte development; and positive regulation of mitotic cell cycle phase transition. Located in adherens junction. [provided by Alliance of Genome Resources, Jul 2025]

OMIM Research

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

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LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)

gnomad: Error: gnomAD API error: 400

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

Background carrier burden — how many people carry a rare variant somewhere in TMOD3?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 120

405 rare PASS variants

Rare truncating (LoF)

1 in 4,800

56 rare PASS variants

Rare synonymous (reference)

1 in 330

153 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for TMOD3. 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 160	1 in 5,600
South Asian	~43k	1 in 170	1 in 2,200
Remaining (unassigned)	~30k	1 in 95	1 in 5,000
European (Finnish)	~27k	1 in 810	≈ 1 in 27,000
Admixed American	~22k	1 in 160	1 in 3,000
African / African American	~21k	1 in 170	1 in 2,200
East Asian	~20k	1 in 200	≈ 1 in 6,600
Ashkenazi Jewish	~13k	1 in 1,900	≈ 1 in 6,500
Middle Eastern	~2,884	1 in 160	≈ 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.