Research Article

Medium-Chain Acyl-CoA Deficiency: Outlines from Newborn Screening, In Silico Predictions, and Molecular Studies

Figure 1

(a), (b) MCAD three-dimensional structure highlighting positions of the mutations. PDB structure 1EGE (ref. Pubmed ID 8823176) was downloaded and visualized in UCSF Chimera (ref. Pubmed ID 15264254). Sidechains of all amino acids with heavy atoms within 4 angstroms were displayed on a ribbon backbone. In (a), valine 119 is shown in its environment, whereas (b) shows glycine 85 in its environment. The positions of the mutations are shown in violet. (c) Electrostatic surface potential of the wild-type form (on the left) and of the p.Gly85Arg mutant form (on the right). The electrostatic surface potential is indicated in red (negative charge), white (uncharged), and blue (positive charge). The figure is generated using the PyMOL Molecular Graphics System, Version Schrödinger, LLC.