Figure 3.

Characterization of the mutation in patient C496. (A) Genomic sequence of the patient showing the c.835-7T > G mutation. The new splice site generated by the T > G substitution is indicated with a dashed line, the wildtype acceptor-splice site is underlined, and the regular start of exon 8 is indicated with an arrow. (B) cDNA sequence covering the exon 7–8 boundary, indicated with a dashed line. Shown below the sequence diagram is the interpretation of the sequence reflecting the two mRNA species present in the sample. The insertion of 6 bp owing to the introduction of a new splice site in the mutant allele is shown as a shaded area. Predicted amino-acid sequence of translation products are shown above and below the respective cDNA sequence.