Fig. 3.

mRNA processing of FLCN with splice-site mutations Green boxes are exons and white boxes are introns. Each intron has guanine and thymidine (GT) at the 5′-end and adenine and guanine (AG) at the 3′-end. A yellow notch indicates a mutated region of intron X. (a) Two patterns of 5′-end mutation, i.e., the present case and ref. [26], demonstrated intron retention. The latter noted the mutant cryptic. (b) Eight patterns of 3′-end mutation (refs. [23–25]) demonstrated exon skipping