Figure 5. Nucleotide and amino acid sequence of exon 13 of the GUCY2D

A: Electropherogram of the sense strand of genomic DNA from the affected proband (III-1) and his father (II-1), showing a novel heterozygous multiple missense mutation of c.2540_2542delinsTCC in exon 13 (p.Gln847_Lys848delinsLeuGln). The arrows indicate the position of the mutation. B: The mutation is absent in the proband's unaffected mother and sister (II-2 and III-2). A subcloned sequence of exon 13 of the gene from the proband (III-1) is normal. C: Another subcloned sequence of exon 13 of the gene this proband (III-1) demonstrating all three missense sequence alterations are present on the same chromosome. D: Amino acid sequence alignment of human RETGC-1, rat GC-E [20], human RETGC-2 [21], rat GC-F [20], bovine ROS-GC [22], and mouse GC-E [20]. Asterisks denote residues of identity, and the [alpha]-helical domain within this region is also indicated. Arrows indicate residues Gln847 and Lys848, which are replaced by Leu and Gln, respectively, in this family.