TNNC1 (P63316) variants and mutations

TNNC1 (also known as P63316) is a human protein-coding gene encoding a troponin C, slow skeletal and cardiac muscles protein. It binds calcium during each heartbeat and shifts the troponin complex to permit actin-myosin interaction and force generation in cardiac muscle. Pathogenic variants can alter calcium sensitivity and cause hypertrophic or dilated cardiomyopathy. This analysis covers 434 TNNC1 variants and mutations. Of these, 78% have computational variant effect predictions. Disease context includes hypertrophic cardiomyopathy, cardiomyopathy, familial restrictive, 1, and dilated cardiomyopathy 1FF. Example TNNC1 variants include D2G, D2N, and D2V.

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 TNNC1 variants

Examples include D2G, D2N, D2V, D3G, D3N, D3V, I4M, I4T. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.