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. 2019 Mar 4;68(5):1084–1093. doi: 10.2337/db17-0821

Figure 1.

Figure 1

SLC19A2 mutation in a family with autosomal dominant diabetes. A: Sequence chromatograms showing heterozygosis for the SLC19A2 p.Lys355Gln mutation. Primer sequences for amplification of the genomic region flanking the p.Lys355Gln mutation and for Sanger sequencing are provided in Supplementary Table 5. B: Pedigree structure of the family with the SLC19A2 p.Lys355Gln mutation. Filled and open symbols represent individuals with diabetes and individuals without diabetes, respectively; half-filled symbol represents individuals with prediabetes, and symbols with a red dash border represent individuals with clinical features related to TRMA. NM indicates presence of the p.Lys355Gln mutation; NN indicates absence of the mutation. The age at examination or the age at diagnosis is shown along with the current treatment under the genotypes; I, insulin; O, oral hypoglycemic agents. C: Multiple amino acid alignments of THTR1 across species. The asterisk indicates the mutated amino acid. Residues residing in transmembrane, cytosolic, and extracellular domains are highlighted in blue, yellow, and pink, respectively.