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The GLUT1 protein structure consisting of 12 transmembrane domains and intracellular amino- and carboxy-termini (Mueckler et al., 1985). GLUT1 DS (Klepper and Leiendecker, 2007) and PED/epilepsy mutations are marked on this figure (yellow colored circles). The PED/epilepsy mutations are boxed. The solid bars indicate the locations of the intron–exon boundaries in the GLUT1 gene. Splice site mutations are indicated at these solid bars with asterisk.
