Table 2: Genetic variation detected within SEZ6.

Amplicon/exonPositionAmino acid changeFebrile seizure frequency (%)
Control frequency (%)

Rare nonsynonymous missense substitutions

2.1c.142 C>AP48T0.50.5
7c.1568 G>AR523H1.10.5

Common nonsynonymous missense substitutions

8c.1636 A>G *T546A22.417.6
12c.2417 T>C **M806T10.615.6

Rare synonymous missense substitutions (benign)

2.1c.213 G>AP71P0.50.0
2.2c.384 G>AA128A0.50.0
5c.1209 C>TP403P0.50.5
7c.1557 C>TG519G0.50.5

Common synonymous missense substitutions (benign)

8c.1737 C>TD579D21.317.0

Common intronic insertion

5IVS5+10-11insC51.657.3

 *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.