Figure 2. Novel UBIAD1 mutation in the study family. A: Pedigree of the study family. In the family tree, squares indicate male and circles indicate female of the family members. Slash denote family member who was deceased, whereas heavy shading means the individual who was affected by SCCD. Arrow indicates proband. B: Sequence chromatogram of the proband and her father showing heterozygous mutation G98S in exon 1, forward reading. C: Reverse reading of the same mutation, showing G98S. D: Normal sequence of UBIAD1 near codon 98, forward reading. E: Normal sequence of UBIAD1 near the mutation in antisense strands detected in a healthy control. F: Sequence alignment of UBIAD1 around the amino acid residues of the mutation detected in the present study and in other species.