Figure 2.

(A) Analysis of the SLC10A7 mutation: Pedigree of the AI patient and DNA sequencing chromatograms of the whole family. Parents and other children were heterozygous and the patient was homozygous for the mutation. An arrow points to the mutation. (B) Multiple sequence alignment of SLC10A7 last transmembrane domain (TM10). The largely conserved sequence of the proteins last transmembrane domain is represented by the dark bar. The amino-acid affected by the missense mutation in the patient (red square) is conserved from human to yeast. (C) Human SLC10A7 mutations in the literature. The SLC10A7 gene contains 12 exons. The mutations described in Dubail et al. (2018) are represented by blue arrows and those reported in Ashikov et al., 2018 by red arrows. Our mutation is the only mutation located at the end of the gene (exon 11) and is represented by a green arrow.