Titin Variants in Dilated Cardiomyopathy

TTN Transcript / Exon Structure & Truncating Variants in Cardiomyopathy Studies

Titin - Exon 75

Details for Exon 75 of the Titin gene - Sequence Coordinates, Associated Transcripts, Functional Data, Truncating Variants and Sequence.

The exon number is based on the LRG numbering, as recommended for clinical reporting.


The genomic coordinates of HG19 and Locus Reference Genomic (LRG) and the CDS coordinates of the Titin meta-transcript for exon 75 are displayed below.

HG19 Genomic Locus Reference Genomic Meta-Transcript
StartEnd StartEnd StartEnd
179,588,423 179,588,145 112,107 112,38521,404 21,682


Exon 75 occurs in the following Titin transcripts (the number indicates the exon rank of exon 75 in each transcript).

74 72 - 71 - - -

Functional Data

Region: This exon occurs in the I-band region of the titin protein.

Domains: This exon codes for the following domain(s) - Ig-like 50.

PSI: The "proportion spliced-in" (an estimate of the percentage of TTN transcripts that incorporate this exon based on RNAseq data) is 34% in DCM (LV tissue of 84 end-stage patients) and 55% in GTEx (LV tissue of 105 samples from Genotype-Tissue Expression project). (See Ref. 1 for details)

Symmetry: This exon is symmetric, i.e. the length of the exon is a multiple of three and therefore removal of it will not alter the reading frame.

1. A. M. Roberts, J. S. Ware, D. S. Herman et al. Integrated allelic, transcriptional, and phenomic dissection of the cardiac effects of titin truncations in health and disease. Sci. Transl. Med. 7, 270ra6 (2015).

Truncating Variants

No TTN truncating variants affecting this exon have been described in major published studies.


Size of Exon: 279 bases           Ensembl ID: ENSE00002290360


ATGC = coding sequence, ATGC = non-coding sequence