Details for Exon 302 of the Titin gene - Sequence Coordinates, Associated Transcripts, Functional Data, Truncating Variants and Sequence.
The genomic coordinates of HG19 and Locus Reference Genomic (LRG) and the CDS coordinates of the Titin meta-transcript for exon 302 are displayed below.
|HG19 Genomic||Locus Reference Genomic||Meta-Transcript|
Exon 302 occurs in the following Titin transcripts (the number indicates the exon rank of exon 302 in each transcript).
Region: This exon occurs in the A-band region of the titin protein.
Domains: This exon codes for the following domain(s) - Ig-like 105.
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 90% 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.
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).
The following TTN truncating variants affecting this exon have been described in major published studies (click on the study name for more details):
|Study||Cohort||Patient ID||Variant (CDS)||Variant (protein)||Variant Type|
|NEJM 2012||DCM-B||UK-B1||c.59345-5T>A||other splice site|
The shaded variants are from a cohort (DCM-B of the 2012 NEJM study) that was also included in the 2015 STM study (DCM-ES cohort) and therefore represent redundant mutations.
Size of Exon: 282 bases