Figure 3. Location of the NR3C1 gene mutations that cause primary generalized glucocorticoid resistance syndrome†. Currently, 36 independent mutations are reported. The mutations identified in the coding sequence of LBD, HR, DBD and NTD are shown in a light green, green, yellow and red box, respectively. Miss-sense mutations, non-sense mutations and frame-shift mutations are shown with black, purple and blue letters, respectively. Two mutations identified in the intronic sequence are shown with red letters. Homozygous mutations are shown with underlines. †: The 1201G>T D410H mutation causes mild glucocorticoid hypersensitivity; *: The same miss-sense mutation but found in unrelated subjects/families; $: Prediction only (the mutated hGR protein was not biologically identified); #: These two mutations were found as compound heterozygous in one affected subject. Numbers of nucleotides and amino acids are based on the transcription initiation site and the first methionine of the hGR protein, respectively. DBD: DNA-binding domain; HR: hinge region; LBD: ligand-binding domain; NTD: N-terminal domain