Figure 2. Sequence analysis of the CERKL gene. The sequencing chromatograms show the forward strand of CERKL exon 2 from a normal control and the affected proband. Depicted is a single nucleotide change C>A (shown by the arrow) in the DNA of the affected proband, which creates a missense change in the protein sequence replacing an arginine (Arg) with a serine (Ser) residue.