This page contains an overview of the genetic variation in the TTN gene, including its role in inherited cardiac disease. For more details, click on the links below, or for a specific variant, enter the HGVS variant here:

TTN gene and transcript details

Gene Name

Gene Links
Ensembl: ENSG00000155657 - Locus Reference Genomic: LRG_391

Genomic Location
Chromosome 2 : 179,391,739 - 179,669,369 (reverse strand)
View in: Ensembl - UCSC Genome Browser

Canonical Seqs Transcript (107973 bases)Protein (35991 aa)
ENST00000589042 ENSP00000467141

Summary of TTN in Cardiomyopathies

DCM - Dilated Cardiomyopathy - explore in detail
VarTypeDCM FreqExAC FreqCase Excess
Based on an analysis of rare variants (MAF<0.0001) in TTN detected in a cohort of 156 DCM patients sequenced at OMGL+LMM clinical laboratories, compared to ExAC controls.

TTN variants in ExAC

Details of the protein-altering TTN variants (missense, loss of function truncating, inframe indels and splice site regions) found in the ExAC database are shown below. To view lists of specific variants with links to detailed population frequency data, click on the variant numbers - for all or a particular variant class.

Total VariantsCombined frequency of rare variants
All Variants131650.21118
Splice Site6930.01074

Rare variants are defined as having a mean allelic frequency of less than 0.0001.