Figure 1.
SCN5A biosynthesis: chromosomal localization, gene transcriptional activation modulated by regulatory elements, transcription factors, histones, and SNPs. Functional, non-functional, and truncated isoforms derived from mRNA splicing, mechanism of the U6-type intron retention, and post-transcriptional regulation mediated by ncRNAs. Alternative exon sequences, intronic or exonic sequences outside the open reading frame (squared), and stop codons (asterisks) are indicated.