Titin Variants in Dilated Cardiomyopathy
TTN Transcript / Exon Structure & Truncating Variants in Cardiomyopathy Studies
Titin - Exon 242
Details for Exon 242 of the Titin gene - Sequence Coordinates, Associated Transcripts, Functional Data, Truncating Variants and Sequence.
Coordinates
The genomic coordinates of HG19 and Locus Reference Genomic (LRG) and the CDS coordinates of the Titin meta-transcript for exon 242 are displayed below.
| HG19 Genomic | HG38 Genomic | Locus Reference Genomic | Meta-Transcript | ||||
|---|---|---|---|---|---|---|---|
| Start | End | Start | End | Start | End | Start | End |
| 179,490,123 | 179,490,000 | 178,625,396 | 178,625,273 | 210,407 | 210,530 | 44,425 | 44,548 |
Transcripts
Exon 242 occurs in the following Titin transcripts (the number indicates the exon rank of exon 242 in each transcript).
| META | N2BA | N2B | N2A | NOVEX-1 | NOVEX-2 | NOVEX-3 |
| 241 | 191 | 69 | 190 | 70 | 70 | - |
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 87.
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 96% 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
No TTN truncating variants affecting this exon have been described in major published studies.
Sequence
Size of Exon: 124 bases
Ensembl ID:
ENSE00002266656
AAAG
ATGC = coding sequence, ATGC = non-coding sequence
