TTN
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
titin
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 |
 |
LRG_391t1 | LRG_391p1 |
 |
NM_001267550.1 | |
 |
Summary of TTN in Cardiomyopathies
DCM - Dilated Cardiomyopathy - explore in detail| VarType | DCM Freq | ExAC Freq | Case Excess |
|---|---|---|---|
| Truncating | 0.14565 | 0.00876 | 13.69% |
| Non-Truncating | 0.44870 | 0.39200 | 5.67% |
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 Variants | Combined frequency of rare variants | |
|---|---|---|
| All Variants | 13165 | 0.21118 |
| Truncating | 390 | 0.00437 |
| Missense | 11967 | 0.19442 |
| Inframe | 114 | 0.00157 |
| Splice Site | 693 | 0.01074 |