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Fig. 3 | BMC Medical Genomics

Fig. 3

From: Identification of two novel pathogenic variants of the NR1H4 gene in intrahepatic cholestasis of pregnancy patients

Fig. 3

The genetic features of NR1H4. A The distribution of the NR1H4 variants. NR1H4 is a 486-amino acid protein containing two DBD regions and one LBD region. Schematic representation of NR1H4 NM_001206993.1 cDNA and protein showing the locations of two novel possible pathogenic variants p.S145F and p.M185L detected in two out of 197 patients with ICP disease. Effects of NR1H4 p.S145F. B and p.M185L variants. C on the protein structure. The three-dimensional models of reference and modified (p.S145F and p.M185L) NR1H4 showed gold and blue rounded structures, respectively. The enlarged portion showed that the two DBD regions have small changes in the chemical bond lengths. DBD: DNA-binding domain; LBD: ligand-binding domain. D Comparison of the expression level of the NR1H4 gene between two healthy pregnant women and 4 patients with ICP. The expression level of NR1H4 was higher in the ICP group than in the healthy group. The difference did not reach the significance level (P = 0.22)

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