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. 2024 May 15;11(6):1615–1629. doi: 10.1002/acn3.52079

Figure 2.

Figure 2

Effects of identified variants. (A) qPCR analysis showing relative COASY mRNA expression in control (Ctr, n = 3) and patients (Pt) fibroblasts. Mean of three independent experiments ± SD is shown. **p < 0.01; ***p < 0.001 (one‐way ANOVA). (B) Immunoblot analysis of COASY protein in fibroblast from controls (Ctr) and patients (Pt). An antibody against GAPDH was used as control. (C) Changes in vibrational entropy energy caused by Glu408Lys variant. Red portion represents a gain in flexibility upon mutation. The predicted change in free energy (ΔΔG) and vibrational entropy (ΔΔSVib) is shown. (D–F) Analysis of contact mediated by residues around mutation sites for (D) Glu408Lys, (E) Arg499Cys, and (F) Arg377Leu. Wild‐type (up) and variant (down) residues are colored in turquoise. H‐bonds are shown in red, Van der Waals (VdW) contacts in gray, hydrophobic‐VdW clashes in green, and polar‐VdW clashes in orange.