The Role of Seizure-Related SEZ6 as a Susceptibility Gene in Febrile Seizures
Table 2
Genetic variation detected within SEZ6.
Amplicon/exon
Position
Amino acid change
Febrile seizure frequency (%)
Control frequency (%)
Rare nonsynonymous missense substitutions
2.1
c.142 C>A
P48T
0.5
0.5
7
c.1568 G>A
R523H
1.1
0.5
Common nonsynonymous missense substitutions
8
c.1636 A>G
*T546A
22.4
17.6
12
c.2417 T>C
**M806T
10.6
15.6
Rare synonymous missense substitutions (benign)
2.1
c.213 G>A
P71P
0.5
0.0
2.2
c.384 G>A
A128A
0.5
0.0
5
c.1209 C>T
P403P
0.5
0.5
7
c.1557 C>T
G519G
0.5
0.5
Common synonymous missense substitutions (benign)
8
c.1737 C>T
D579D
21.3
17.0
Common intronic insertion
5
IVS5+10-11insC
51.6
57.3
*rs1976165; **rs12941884. Numbering of variants in this table is based on the mRNA sequence for SEZ6 transcript variant 1 (NM_178860), with the A of the initiation codon numbered as nucleotide 1.
