Fig. 2
From: LDLR c.415G > A causes familial hypercholesterolemia by weakening LDLR binding to LDL
Sequencing results and in silico analysis of pathogenic variants. (A) Whole-exome sequencing results visualized using Integrative Genomics Viewer (IGV). (B) Chromosomal location of LDLR c.415G > A and Sanger sequencing results. LDLR c.415G > A is shown by the red arrow. The bimodal distribution indicates that the variant is heterozygous. (C) Examination of interspecific conservation of homologous proteins. The red box indicates that amino acids are affected by LDLR c.415G > A. Amino acids with conservation greater than 90% are highlighted in yellow. (D) Differences in interatomic interactions between wild-type and variant LDLR. Wild-type and variant residues are light green and are shown as sticks with adjacent residues involved in the interaction