Fig. 2.

The novel GUCY2D mutation: aThe c.2129C>T (p.Ala710Val) mutation in GUCY2D. Sanger sequence analysis of an affected individual and an obligate carrier. b Schematic illustration of the GC1 protein. The mutation occurs within the catalytic protein kinase domain. c The alanine at position 710 is highly conserved throughout evolution. d ConSeq analysis. Prediction of the structural and functional importance of alanine residue at position 710 was done using the ConSeq server. The ConSeq conservation grade was 9 (meaning highly conserved). Each amino acid is scored on a scale of 1–9, where 1–2, 3–5 and 6–9 signify that the protein sequence is variable, average and conserved, respectively. Predicted functional and structural residues are marked “f” or “s”, respectively. Predicted exposed and buried residues are marked “e” or “b”, respectively