LMOD3
Chr 3ARleiomodin 3
Also known as: NEM10
This protein catalyzes actin nucleation and organizes sarcomeric thin filaments in skeletal muscle through its three actin-binding domains and other structural motifs that localize to the pointed ends of thin filaments. Mutations cause nemaline myopathy 10, inherited in an autosomal recessive pattern, which presents as a severe congenital form characterized by nonprogressive generalized muscle weakness and nemaline body inclusions in skeletal muscle fibers. The pathogenic mechanism involves dominant-negative effects that disrupt normal thin filament organization.
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Tolerant to missense variation
Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.
The Badonyi & Marsh prediction model was trained exclusively on dominant disease genes. Predictions are not reliable for genes with autosomal recessive inheritance and are shown at reduced opacity for reference only.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
LMOD3 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools