TABLE 2.

Twenty-four different mutations of the SLC2A1 gene in 27 Chinese patients with GLUT1-DS.

Mutation	Pt.	Exon	Nucleotide	Location	Mutation origin
Missense
R333W	2, 22	8	c. 997C>T	Cytoplasmic loop 8–9	De novo
E247K	5	6	c.741G > A	Cytoplasmic loop 6–7	De novo
P383H	8	9	c.1148C > A	TMD10	De novo
R400C	9	9	c.1198C > T	Cytoplasmic loop 10–11	De novo
N/A	14#	8	N/A	N/A	De novo
R126C	16	4	376G > A	Extracellular loop 3–4	De novo
R126H	17	4	377G > A	Extracellular loop 3–4	De novo
S66Y	19	3	197C > A	Extracellular loop 1–2	De novo
R153C	20	4	457C>T	Cytoplasmic loop 4–5	De novo
Nonsense
Q25X	28–30	2	73C > T	TMD1	Paternal
Frameshift
c.240delC	1	2	240delC	TMD2	N/A
c.599delA	6	5	599delA	TMD6	De novo
c.761delA	7	6	761delA	Cytoplasmic loop 6–7	N/A
c.787_791del5	15	6	787_791del TTCCG	Cytoplasmic loop 6–7	De novo
c.688_689insT	18	6	688_689insT	Cytoplasmic loop 6–7	De novo
c.715dupC	21	6	715dupC	Cytoplasmic loop 6–7	De novo
c.1094_1095ins25	23	9	1094_1095insAACAGGAGC AGCTACCCTGGATGTC	Extracellular loop 9–10	De novo
c.908dupT	26	7	908dupT	Extracellular loop 7–8	N/A
c.164_165delinsTTCA	27	3	164_165delinsTTCA	Extracellular loop 1–2	De novo
Large fragment deletion
Large fragment deletion	4	2	exon 2 large fragment deletion	-	De novo
c.350_385del	13	4	350_385del	-	De novo
Large fragment deletion	24#	N/A	chr1:43392702–43409002	-	De novo
Splice site		Intron
c.972+1G > C	11	7	972+1G > C	-	N/A
c.516+2T > G	12	4	516+2T > G	-	De novo

Two patients (Pt. 14 and Pt. 24) only showed limited information of mutations. One patient (Pt. 10) negative for SLC2A1 gene mutation and two (Pt. 3 and Pt. 25) without available mutation data were not presented here.