LMOD3

Chr 3p14.1

leiomodin 3

MANE:: ENST00000420581.7

OMIM: 616112 ↗NCBI: 56203 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

LMOD3 · Q0VAK6

v62025-08-01

Predicted Aligned Error matrix for LMOD3 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

67.8/ 100

Low

560 residues

Confidence breakdown

Very high(≥ 90)29%
Confident(70–90)28%
Low(50–70)11%
Very low(< 50)32%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Arthrogryposis
BIALLELIC, autosomal or pseudoautosomal
Congenital myopathy
BIALLELIC, autosomal or pseudoautosomal
DDG2P
BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

nemaline myopathy 10
0.77
severe congenital nemaline myopathy
0.64
nemaline myopathy
0.53
typical nemaline myopathy
0.38
multiple sclerosis
0.29
diaphragm disorder
0.23
hereditary disease
0.19
Joubert syndrome
0.12
alcohol drinking
0.10
seasonal allergic rhinitis
0.08

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Leiomodin-3

Essential for the organization of sarcomeric actin thin filaments in skeletal muscle (PubMed:25250574). Increases the rate of actin polymerization (PubMed:25250574)