Figure 6. DNA analysis for c.3596C>G mutation and deduced amino acids of length polymorphism region of the RP1-like protein 1 (RP1L1) gene and the pedigree of the family with RP1L1 gene mutation. A: Sequence chromatograms for this case (top) and the normal control (bottom) are shown. This case had a c.3596 C>G mutation in exon 4. B: Alignment of S1199 in the RP1L1 family proteins. Amino acid-sequence alignments of RP1L1 from 10 species reported in the NCBI database are shown. Amino acid residues of S1199 in humans and conserved residues from other species are boxed. The asterisks indicate completely conserved residues. S1199 is well conserved in all species reported. C: We confirmed that the mutation in Case 1 was segregated with the disease in one affected member and one unaffected member of the family. D: Deduced amino acids (AA) of repeated regions of the RP1L1 length polymorphism. In this case, one allele contains a 16 AA, and the other allele contains three 16 AA repeats. Variations of amino acids from reference sequence of RP1L1 are shown in red. Those variations are within normal limits.