Titin Variants in Dilated Cardiomyopathy

TTN Transcript / Exon Structure & Truncating Variants in Cardiomyopathy Studies

Titin - Exon 71

Details for Exon 71 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 71 are displayed below.

HG19 Genomic Locus Reference Genomic Meta-Transcript
StartEnd StartEnd StartEnd
179,590,773 179,590,495 109,757 110,03520,276 20,554

Transcripts

Exon 71 occurs in the following Titin transcripts (the number indicates the exon rank of exon 71 in each transcript).

METAN2BAN2BN2ANOVEX-1NOVEX-2NOVEX-3
70 68 - 67 - - -

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 46.

PSI: The "proportion spliced-in" (an estimate of the percentage of TTN transcripts that incorporate this exon based on RNAseq data) is 46% in DCM (LV tissue of 84 end-stage patients) and 61% 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: 279 bases           Ensembl ID: ENSE00002319025

AGCCACCTGTTTTTAGCAGCTTCCCTCCTATAGTAGAAACCCTTAAAAATGCTGAAGTCAGTCTTGAATGTGAACTTTCGGGAACACCACCGTTTGAGGTGGTATGGTACAAAGACAAGC
GGCAACTCAGAAGCAGCAAGAAATACAAGATTGCATCCAAAAACTTCCACACAAGTATTCACATTCTCAATGTGGACACTTCAGACATCGGTGAATACCACTGCAAAGCACAGAATGAAG
TGGGAAGTGATACTTGTGTTTGTACTGTAAAATTGAAAG

ATGC = coding sequence, ATGC = non-coding sequence