TABLE 3.

Glut1 pathogenic mutants, resulting in DS-GLUT1 phenotype in humans

Mutation	Nucleotides	Location	Reference
S66F	TCC→TTC	Helix 2	Klepper et al. (1999)
G91D	GGC→GAC	Loop 2–3	Klepper et al. (2001)
R126H	CGC→CAC	Helix 4	Brockmann et al. (2001)
R126L	CGC→CTC	Helix 4	Wang et al. (2000)
R126C	CGC→CGT	Helix 4	Pascual et al. (2002)
E146K	GAA→AAA	Helix 4	Wang et al. (2000)
E247D	GAA→CAA	Loop 6–7	Pascual et al. (2002)
K256V	AAG→GTG	Loop 6–7	Pascual et al. (2002)
T310I	ACC→ATC	Helix 8	Klepper et al. (1999)
R333W	CGG→TGG	Loop 8–9	Wang et al. (2000)