Mutational Spectrum Analysis of Seven Genes Associated with Thyroid Dyshormonogenesis

Figure 2

Location of detected missense or indel variants in TG and DUOX2 proteins. (a) Four mutations in TG. The repetitive units (types 1, 2, and 3) and ACHE-like domain are represented by boxes [19]. (b) Nineteen variants, including two functional SNPs, in DUOX2. The relative positions of the transmembrane domain, heme peroxidase-like domain, calcium-binding (EF-hand), flavine adenine dinucleotide- (FAD-) binding, and reduced nicotinamide adenine dinucleotide phosphate- (NADPH-) binding motifs are indicated [46]. Labeled variants (top) represent previously reported variants. Variants previously reported in the literature are shown in black, and those reported only in public population databases are shown in gray. Labeled variants (bottom) are novel variants identified in the present study.

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