Table 3.

Variants identified in the 82 patients (75 GLUT1DS1-like patients and 7 AHC) screened for SLC2A3 mutation

Gene location	Sequence change	Protein change	SNP ID (dbSNP)	Number of heterozygous alleles/164	Number of homozygous alleles/164	Number of total alleles/164	Observed frequency of minor allele	Known frequency of HapMap CEU population
Exon 3	c.163T>A	p.Ser55Thr	Unknown	1	0	1	0.6 %	Unreported
Intron 3	c.269+36A>G	?	rs2541279	27	3	33	20.1 %	27 %
Exon 6	c.774A>G	p.Leu258=	rs17847967	18	5	28	17.1 %	15.8 %
Intron 7	c.966+100T>C	?	Unknown	1	0	1	0.6 %	Unreported
Intron 8	c.1069-65T>C	?	rs741361	39	7	53	32.3 %	36 %
Intron 9	c.1273+131G>A	?	rs9668489	21	60	141	17.1 %	10.4 %
Exon 10	c.1308C>T	p.Thr436=	rs25684	38	20	78	47.5 %	40 %