Figure 4.
Details of the SLC39A4:c.1057G>C, p.Gly353Arg variant. (a) Representative electropherograms of three cats with different genotypes are shown. The variable position is indicated by an arrow and the amino acid translations are shown. (b) Model of SLC39A4 membrane topology, modified from [39]. The positions of six functionally characterized missense variants identified in human AE patients are indicated. The position of the feline p.Gly353Arg variant identified in the investigated cat is indicated in red. (c) Multiple-species alignment of the SLC39A4 amino acid sequences in the region harboring the p.Gly353Arg variant. The variant affects a highly conserved glycine residue. The sequence of the first transmembrane domain is underlined.