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Fig. 1 | BMC Medical Genetics

Fig. 1

From: An unexpected, mild phenotype of glucocorticoid resistance associated with glucocorticoid receptor gene mutation case report and review of the literature

Fig. 1

Sanger sequencing and three dimensional model of the Arg and Gln at postion 714 of the GR gene. Chromatogram showing the heterozygous c.2141G➔A mutation of exon 8 of the GR gene in the index patient and her clinically unaffected sister (panel a); Arginine at position 714 sits on the surface of the domain. The amino acid change from arginine to glutamine may disturb the structure and charge distribution. The GR ligand binding domain coordinates are from PDB structure 4UDC. The domain backbone represented as ribbon. The aminoacid 714 and the surrounding residues are represented with sphere and colored CPK. Arginine side change carbon atoms are colored with light sea green (panel b), while glutamine side change carbon atoms are colored with forest green (panel c)

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