Table 2.

Known KCNQ4 mutations

Family	Mutation	Protein domain	Exon	Reference
Dutch I	W276S	Pore region	5	Coucke et al20
Dutch II	G321S	S6 transmembrane domain	7	Coucke et al20
Dutch III	L274H	Pore region	5	Van Hauwe et al18
Dutch IV	W276S	Pore region	5	Van Camp et al24
Dutch V	W276S	Pore region	5	Topsakal et al23
Belgian*	Fs71X134	N-terminal cytoplasmic region	5	Coucke et al20
Japanese I	W276S	Pore region	5	Akita et al25
Japanese II	W276S	Pore region	5	Van Camp et al24
Japanese III*	Fs71X138	N-terminal cytoplasmic region	1	Kamada et al30
American I	G285C	Pore region	6	Coucke et al20
American II	L281S	Pore region	6	Talebizadeh et al27
French	G285S	Pore region	6	Kubisch et al4
Taiwanese	F182L	S3 Transmembrane domain	4	Su et al29
Spanish	G296S	Pore region	6	Mencia et al21
American III	G287A	Pore region	6	Arnett et al22
Korean	c664_del18	S4–S5 intramembrane loop	4	Baek et al17
American IV	E260K	S5 transmembrane domain	5	Hildebrand et al31
American V	D262V	S5 transmembrane domain	5	Hildebrand et al31
American VI*	W241X	S5 transmembrane domain	5	Hildebrand et al31

Note:

^*Nonsense mutations resulting in truncated peptide.