LDB3 (LIM domain-binding protein 3) variants and mutations

LDB3 (also known as LIM domain-binding protein 3) is a human protein-coding gene encoding a LIM domain-binding protein 3 protein. It organizes Z-disc protein complexes and helps maintain sarcomere integrity during repeated muscle contraction. Pathogenic variants can cause myofibrillar myopathy and dilated or other forms of cardiomyopathy. This analysis covers 1,449 LDB3 variants and mutations. Of these, 77% have computational variant effect predictions. Disease context includes myofibrillar myopathy 4, hypertrophic cardiomyopathy, and Late-onset distal myopathy, Markesbery-Griggs type. Example LDB3 variants include S2P, S2T, and S2Y.

Variant analysis overview

Variant and mutation evidence

Clinical, disease, and population context

Protein structure and variant hotspots

Data sources

Evidence in this analysis draws on EBI Proteins Variation, UniProt, gnomAD v4, EuropePMC, 3D Hotspot Analysis, Interaction Network Analysis, Protein Data Bank, AlphaFold DB, gnomAD constraint, Open Targets, ClinGen, MaveDB, LitVar.

Notable LDB3 variants

Examples include S2P, S2T, S2Y, S2F, Y3Y, S4N, S4R, S4T. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.