Titin Variants in Dilated Cardiomyopathy

TTN Transcript / Exon Structure & Truncating Variants in Cardiomyopathy Studies

Titin - Exon 48

Details for Exon 48 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 48 are displayed below.

HG19 Genomic		HG38 Genomic		Locus Reference Genomic		Meta-Transcript
Start	End	Start	End	Start	End	Start	End
179,616,766	179,610,047	178,752,039	178,745,320
179,616,766 *	179,610,312 *

* Coordinates for protein-coding part of the exon.

Transcripts

Exon 48 occurs in the following Titin transcripts (the number indicates the exon rank of exon 48 in each transcript).

META	N2BA	N2B	N2A	NOVEX-1	NOVEX-2	NOVEX-3
-	-	-	-	-	-	46

Functional Data

PSI: As exon 48 of the Novex-3 transcript is a 3' exon, the PSI is unreliable. An alternative method comparing ratio of reads from exons 48 & 364 suggests novex-3 represents 9.4% of transcripts in the DCM cohort and 7.3% of transcripts for GTEx.

Symmetry: This exon is assymmetric, i.e. the length of the exon is not a multiple of three and therefore removal of it will 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).