Fig. 2

Splicing outcomes of the three recently reported SPINK1 splice site variants as determined by the cell culture-based full-length gene assay. Normal splicing in the context of the wild-type sequence and aberrant splicing in the context of the mutant sequence are illustrated for each of the three variants. The splice donor signal (GT) and splice acceptor signal (AG) are highlighted in blue. Variants occurred within the splice sites are highlighted in green. In c.55 + 1G > A, the two novel splice donor sites used for aberrant splicing are highlighted in red. In c.[88-1G > A; 88-7 T > A], the c.88-1G > A variant shifted the AG site by one base, resulting in the skipping of the first nucleotide of exon 3 (i.e., the G highlighted in red). S shorter, L longer, M mutant