A Chinese Family with Familial Dysalbuminemic Hyperthyroxinemia (FDH) due to R242H Mutation on Human Albumin Gene: Reevaluating the Role of FDH in Patients with Asymptomatic Hyperthyroxinemia

Figure 2

Gene sequencing of the proband. (a) Part of the genomic sequences on chromosome 4 within the human albumin gene compared with a normal control. The green point indicated the deviation from the reference genome at exon 7 (c.725G > A), and this codon mutation would replace arginine with a histidine in the peptide chain (R242H). (b) Confirmed results by the direct Sanger sequencing of the point mutation on the human albumin gene compared with the reference sequence. The codon CGC was substituted with CAC which further verified the R242H amino acid replacement. Ala: alanine, Arg: arginine, Leu: leucine, and His: histidine.