LMO7DN

Chr 13

LMO7 downstream neighbor

Also known as: C13orf45, LMO7DN-IT1

NCBI Gene: 729420 ENSG00000178734 UniProt: F2Z398

LMO7DN encodes a LIM domain protein that functions in actin cytoskeleton organization and cell adhesion. Mutations cause autosomal dominant dilated cardiomyopathy with variable cardiac conduction defects and occasional skeletal muscle involvement. The gene shows very low constraint against loss-of-function variants, suggesting tolerance to protein truncation.

Research

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.95

LOEUF

GOF

Mechanism· predicted

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?

1.95LOEUF

pLI 0.000

Z-score -1.50

OE 1.66 (0.95–1.95)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

0.02Z-score

OE missense 0.99 (0.80–1.25)

54 obs / 54.3 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?1.66 (0.95–1.95)

0≤0.351.4

Missense OE?0.99 (0.80–1.25)

0≤0.61.4

Synonymous OE?0.87

0≤1.21.6

LoF obs/exp: 10 / 6.0Missense obs/exp: 54 / 54.3Syn Z: 0.48

Background carrier burden — how many people carry a rare variant somewhere in LMO7DN?

gnomAD v4 · ~692k individuals · PASS only

Rare means allele frequency under

Rare missense

none observed

0 rare PASS variants

Rare truncating (LoF)

1 in 44,000

8 rare PASS variants

Rare synonymous (reference)

none observed

0 rare PASS variants

Rare missense and truncating variants are carried at similar rates in LMO7DN; 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 · 5 gnomAD groups · rare = under 0.1% in that group

Group	People	Missense	Truncating
European (non-Finnish)	~539k	none seen	1 in 63,000
South Asian	~40k	none seen	≈ 1 in 14,000
Remaining (unassigned)	~29k	none seen	≈ 1 in 29,000
East Asian	~18k	none seen	≈ 1 in 18,000
Admixed American	~18k	none seen	≈ 1 in 18,000

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.