CSRP3 (P50461) variants and mutations

CSRP3 (also known as P50461) is a human protein-coding gene encoding a cysteine and glycine-rich protein 3 protein. It localizes to the cardiac Z-disc and participates in mechanosensing and maintenance of sarcomere structure under mechanical load. Pathogenic variants can cause hypertrophic or dilated cardiomyopathy by disrupting cardiac structural signaling. This analysis covers 548 CSRP3 variants and mutations. Of these, 93% have computational variant effect predictions. Disease context includes dilated cardiomyopathy 1M, hypertrophic cardiomyopathy 12, and hypertrophic cardiomyopathy. Example CSRP3 variants include M1I, M1T, and P2Q.

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 CSRP3 variants

Examples include M1I, M1T, P2Q, P2S, N3K, W4R, W4*, G5D. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.