Titin Variants in Dilated Cardiomyopathy

TTN Transcript / Exon Structure & Truncating Variants in Cardiomyopathy Studies

Titin - Exon 361

Details for Exon 361 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 361 are displayed below.

HG19 Genomic Locus Reference Genomic Meta-Transcript
StartEnd StartEnd StartEnd
179,393,946 179,393,255 306,584 307,275106,532 107,223

Transcripts

Exon 361 occurs in the following Titin transcripts (the number indicates the exon rank of exon 361 in each transcript).

METAN2BAN2BN2ANOVEX-1NOVEX-2NOVEX-3
360 310 188 309 189 189 -

Functional Data

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

Domains: This exon codes for the following domain(s) - Ig-like 150.

PSI: The "proportion spliced-in" (an estimate of the percentage of TTN transcripts that incorporate this exon based on RNAseq data) is 100% in DCM (LV tissue of 84 end-stage patients) and 99% in GTEx (LV tissue of 105 samples from Genotype-Tissue Expression project). (See Ref. 1 for details)

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).

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-PRO12PF00041c.106629delAp.Ala35544ProfsX2frameshift

Sequence

Size of Exon: 692 bases           Ensembl ID: ENSE00001632029

CTATAAAAGATACTGAGGCACAGAAAGTCTCTACACAAAAGACTTCTGAAATTACACCTCAGAAGAAAGCTGTTGTCCAAGAGGAAATTTCCCAAAAAGCCCTAAGGTCTGAAGAAATTA
AGATGTCAGAGGCAAAATCTCAAGAAAAGTTAGCCCTCAAAGAGGAAGCTTCAAAGGTTCTGATTTCTGAAGAAGTCAAGAAATCAGCAGCAACCTCCCTGGAAAAATCCATTGTCCATG
AGGAAATCACTAAAACATCACAGGCATCAGAAGAAGTCAGAACTCATGCTGAGATTAAAGCATTTTCTACTCAGATGAGCATAAACGAAGGTCAAAGACTGGTTTTAAAAGCCAACATTG
CTGGTGCCACTGATGTGAAATGGGTACTGAATGGCGTAGAGCTTACCAACTCTGAGGAGTACCGATATGGTGTCTCAGGCAGCGATCAGACCCTAACCATCAAGCAAGCCAGTCACAGAG
ATGAAGGAATCCTCACCTGCATAAGCAAAACCAAGGAAGGAATCGTCAAGTGTCAGTATGATTTGACACTGAGCAAAGAACTCTCAGATGCTCCAGCCTTCATCTCACAGCCTAGATCTC
AAAATATTAATGAAGGACAAAATGTTCTCTTTACTTGTGAAATCAGTGGCGAGCCATCCCCTGAAATCGAATGGTTTAAAAACAACCTGCCA

ATGC = coding sequence, ATGC = non-coding sequence