Figure 1. Pedigree and chromatogram of novel mutation Gly485Arg. A: Pedigree obtained from family 11. B: Pedigree obtained from family 52. C: Normal genotype from control samples. D: Heterozygous genotype from unaffected father (V:3), mother (VI:1), maternal grandmother (V:2), and first younger sister (VII:2). E: Mutant genotype from both Probands (V:1) and (VII:1) from family 11 and 52. F: Evolutionary conservation of Gly485Arg among the other related mammalian species. The amino acid residue glycine in the 485th position shown in red are evolutionary conserved.