TCAP
Chr 17ADARtitin-cap
Also known as: CMD1N, CMH25, LGMD2G, LGMDR7, T-cap, TELE, telethonin
The protein binds to titin Z1-Z2 domains in cardiac and skeletal muscle sarcomeres and serves as a substrate for titin kinase, functions critical for sarcomere assembly. Mutations cause autosomal recessive limb-girdle muscular dystrophy type 2G and autosomal dominant hypertrophic cardiomyopathy through a predicted gain-of-function mechanism.
Disputed — evidence questions this relationship
3 total gene-disease associations curated
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
This gene has evidence for multiple mechanisms of pathogenicity (gain-of-function and dominant-negative). Both the Badonyi & Marsh prediction and the broader genomic evidence point to gain-of-function as the predominant mechanism. Different variants in this gene may act through different mechanisms — interpret in context of the specific variant.
Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
TCAP · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools