Titin Variants in Dilated Cardiomyopathy

TTN Transcript / Exon Structure & Truncating Variants in Cardiomyopathy Studies

Titin - Exon 102

Details for Exon 102 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 102 are displayed below.

HG19 Genomic Locus Reference Genomic Meta-Transcript
StartEnd StartEnd StartEnd
179,571,681 179,571,589 128,849 128,94129,042 29,134


Exon 102 occurs in the following Titin transcripts (the number indicates the exon rank of exon 102 in each transcript).

101 99 - 98 - - -

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 77.

PSI: The "proportion spliced-in" (an estimate of the percentage of TTN transcripts that incorporate this exon based on RNAseq data) is 72% in DCM (LV tissue of 84 end-stage patients) and 88% 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

The following TTN truncating variants affecting this exon have been described in major published studies (click on the study name for more details):

StudyCohortPatient IDVariant (CDS)Variant (protein)Variant Type
STM 2015DCM-PRO10JF01835c.29042-2A>Cessential splice site
STM 2015DCM-PRO12SK00375c.29062delGp.Ala9688GlnfsX7frameshift
STM 2015JHSJ548074c.29042-2A>Cessential splice site
STM 2015JHSJ550083c.29042-2A>Cessential splice site
STM 2015JHSJ558930c.29042-2A>Cessential splice site


Size of Exon: 93 bases           Ensembl ID: ENSE00002265076


ATGC = coding sequence, ATGC = non-coding sequence