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. 2019 Mar 6;3(5):865–881. doi: 10.1210/js.2019-00028

Figure 1.

Figure 1.

Schematic representation of NR3C1 gene organization and localization of the six missense variants in the NTD of the GRα protein. The NR3C1 gene is located in chromosome 5 in humans and contains at least 10 exons (exon 9β is not illustrated). The first one is an untranslated exon. Exon 2, the first translated exon, encodes the entire NTD (aa 1–420) composed of the activation function 1 (AF1) domain (aa 77–262), which encompasses the tau core 1 (τ1) domain (aa 187–244). Exons 3 and 4 encode the two zinc fingers of the DNA-binding domain (DBD; aa 421–487), whereas exons 5 to 9 encode the hinge region (HR; aa 488–526) and the ligand-binding domain (LBD; aa 527–777) of the GRα protein. All six missense genetic variants (arrows) discovered by NGS are located in the NTD.