Fig. 2

Novel VSX1 coding variants in KC families A, B: Comparison of DNA sequence chromatogram of an unaffected individual (top) with an affected (bottom). A: Patients DNA from KC–01, KC–02 revealed heterozygous T-to-A (c.803 T > A) transition (black arrow) in exon 4 of VSX1, resulting in a leucine 268 (CTC) to histidine (CAC) change (p. Leu268His). B: Affected individuals from family KC–03 shows a heterozygous T > A (c.751 T > A) nucleotide change in exon 4 of VSX1, which altered the serine 251 (TCC) to theronine (ACC) amino acid change (p. Ser251Thr). C: Amino acid sequence alignment of the human VSX1 protein (amino acids from 234–274) with other species. The Ser 251 and Leu 268 are shown in red