Potassium channel gene mutations rarely cause atrial fibrillation

BMC Medical Genetics

Table 2 Observed polymorphisms in potassium channels.

Gene	Exon	Polymorphism	Allele frequency	Reference
KCNE1	1	G84A, S28S	0.0052	[17]
	1	G112A, G38S	0.24	[18]
	1	C158T, F53F	0.11
	1	C240T, V80V	0.021	[19]
	1	G253A, D85N	0.021	[15], [20]
	1	G37A, Q13Q	0.0052
KCNE3	1	T198C, F66F	0.09	[21]
	1	G248A, R83H	0.016	[16]
KCNE4	1	T81C, G27G	0.31
	1	G69A, S23S	0.005
	1	C264T, P88P	0.098
	1	G435T, E145D	0.32
	1	G471A, E157E	0.031
	1	3'+18, G>C	0.073
KCNE5	1	C97T, P33S	0.25
	1	C207T, F69F	0.021
KCNJ2	3	C1146T, L383L	0.13

These are numbered based on the ATG using the cDNA sequence KCNE1 (BC046224), KCNE2 (AF302095), KCNE3 (NM005472.3), KCNE4 (NM080671), KCNE5 (NM012282), KCNJ2 (AF153820). Lower case letters refer to intronic base pairs and are located with respect to the corresponding intron-exon boundaries (5' or 3' +/- number of basepairs). Upper case letters refer to exonic polymorphisms. Polymorphisms that change the coding sequnce are indicated in bold. No polymorphisms were identified in KCNE2.

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