TTN (Titin) variants and mutations

TTN (also known as Titin) is a human protein-coding gene encoding a titin protein. Its enormous titin polypeptide spans much of the sarcomere and provides passive elasticity, structural alignment, and mechanosensing in striated muscle. Truncating variants are among the most common genetic causes of dilated cardiomyopathy, while other variants cause diverse skeletal and cardiac myopathies. This analysis covers 51,979 TTN variants and mutations. Of these, 26% have computational variant effect predictions. Disease context includes dilated cardiomyopathy, dilated cardiomyopathy 1G, and cardiomyopathy. Example TTN variants include T2P, T3N, and T3P.

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, gnomAD constraint, Open Targets, ClinGen, MaveDB, LitVar.

Notable TTN variants

Examples include T2P, T3N, T3P, Q4*, Q4P, A5G, A5H, A5T. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.