Figure 4. Schematic diagram of comparison between normal splicing and aberrant splicing. The upper panel shows the normal splicing of the wild-type RNA transcript. The lower panel shows that the G>A mutation (black triangles) at the acceptor splice site of intron 3 leads to activation of a cryptic acceptor splice site within the 3′ UTR of the MIP gene, resulting in the loss of the coding region and most of the untranslated region of exon 4. The underlining codon (UAG and uga) denote the wild type and de novo terminal codon, respectively. The 61 amino acids encoded by exon 4 are replaced by a Leu-His-Ser tripeptide.