“…Based on studies with minigene constructs, Hinzpeter et al (2010) have proposed that the c.2491G.T mutation not only introduces a premature stop codon, but also creates a binding site (CAGTAG) for the splicing factor that recognizes the consensus sequence NAGNAG. The study shows that the mutation can lead to the production of three different mRNAs: CFTR_831-873del, CFTR_E831X, and CFTR_ E831del, and, unexpectedly, the latter transcript could bypass the premature termination codon and produce a functional p.E831del protein.…”