Schematic diagram of glut1. A schematic diagram of glut1 is shown, the membrane spans are based on the model shown in Figure 2A. Mutations (reading frame shifts, sites of insertions or substitutions) associated with glut1DS are highlighted in blue.^12,26-29,31  Glut1DS is also associated with splice site mutations and deletions (not shown). Mutations associated with PED are highlighted in light green.³⁰  Deletion of “QQLS” associated with PED and echinocytic anemia is highlighted in dark green.⁹  Mutations associated with sdCHC are highlighted in red. The 24 amino acids with a bold outline are totally conserved residues across all glucose transporter isoforms and all species (supplemental Figures 1-2, available on the Blood Web site; see the Supplemental Materials link at the top of the online article).