Details for Exon 303 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 303 are displayed below.
|HG19 Genomic||Locus Reference Genomic||Meta-Transcript|
Exon 303 occurs in the following Titin transcripts (the number indicates the exon rank of exon 303 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) - Fibronectin type-III 32.
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 91% 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|
|STM 2015||DCM-ES||20VW01643||c.59627-1G>A||essential splice site|
|NEJM 2012||DCM-A||MGR-11||c.59926+1G>A||essential splice site|
|NEJM 2012||DCM-B||UK-B12||c.59627-1G>A||essential 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: 300 bases