Titin Variants in Dilated Cardiomyopathy

TTN Transcript / Exon Structure & Truncating Variants in Cardiomyopathy Studies

Titin - Exon 197

Details for Exon 197 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.

Coordinates

The genomic coordinates of HG19 and Locus Reference Genomic (LRG) and the CDS coordinates of the Titin meta-transcript for exon 197 are displayed below.

HG19 Genomic		HG38 Genomic		Locus Reference Genomic		Meta-Transcript
Start	End	Start	End	Start	End	Start	End
179,518,428	179,518,348	178,653,701	178,653,621	182,102	182,182	38,546	38,626

Transcripts

Exon 197 occurs in the following Titin transcripts (the number indicates the exon rank of exon 197 in each transcript).

META	N2BA	N2B	N2A	NOVEX-1	NOVEX-2	NOVEX-3
196	-	-	-	-	-	-

Functional Data

PSI: The "proportion spliced-in" (an estimate of the percentage of TTN transcripts that incorporate this exon based on RNAseq data) is 2% in DCM (LV tissue of 84 end-stage patients) and 8% 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.

References
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.

Sequence

Size of Exon: 81 bases Ensembl ID: ENSE00002750222

TGCCTGAAGCTCAAGAAGTTGTCCCAGAAAAGAAAGTTCCTAAGGCTCCTCCCACAAAACCAGAAGCCCCACCTGCCACAG

ATGC = coding sequence, ATGC = non-coding sequence