Fig. 1.

Three-dimensional structure of human GLUT1 (PDB ID: 5EQI) in the membrane plane depicting the positions of LOF pathogenic genetic mutations triggering GLUT-DS. The positions of intracellular helices (ICH) and several natural mutations (N34S, S66F, G76D, G91D, R126H/L, E146K, L156R/N, R218H, K256V, T310I, or R333W) in ball-and-stick model are highlighted. The structure was analyzed in a PyMol computer modeling program (http://www.pymol.org/). For clarity, two side views (a and b) are shown to depict the positions of genetic mutations with regard to the membrane plane (highlighted in light green)