Figure 4

Characterization of mutation in patient C633. Diagram of genomic DNA sequence at the exon/intron 7 boundary. The line arrow indicates the c.834G > C mutation and the wildtype 5' donor splice site of intron 7 is underlined in the sequence diagram. The wildtype cDNA and the resulting amino acid sequence from the corresponding transcript are shown above the diagram. The G that is substituted in one allele in the patient is indicated in bold. The cryptic splice site used as a result of the mutation is underlined with a dashed line and the shaded area corresponds to the mRNA sequence deleted in the mutant transcript. Beneath the genomic sequence the cDNA sequence derived from the mutant allele is displayed, showing the resulting frameshift and premature termination of the translation product.