The KCNE genes in hypertrophic cardiomyopathy: a candidate gene study

Table 1 Genetic variants within the KCNE genes identified in a Danish HCM cohort

nucleotide	peptide	rs#	Pop rare allele frequency	HCM rare allele frequency	Disease association	Reference
KCNE1: [NM_000219.2/NP_000210.2]
c.24 G > A	p.A8A		0.000	0.005
c.112G > A	p.G38S	rs17846179	0.494	0.376	AF	[40]
c.253G > A	p.D85N	rs1805128	0.012	0.005	IVF, drug induced	[18, 35, 36]
KCNE2: [NM_172201.1/NP_751951.1]
c.22A > G	p.T8A	rs2234916	0.043	0.005	IVF, drug-induced
KCNE3: [NM_005472.4/NP_005463.1]
c.2T > C	p.M1T		0.003	0.000
c.198T > C	p.F66F	rs2270676	0.104	0.080
c.248G > A	p.R83H	rs17215437	0.003	0.011	Hypokalemia	[7, 41]
KCNE4: [NM_080671.2/NP_542402.2]
c.69C > T	p.S23S	rs12720447	0.011	0.006
c.81C > T	p.G27G	rs3795886	0.730	0.717
c.264T > C	p.P88P	rs10201907	0.949	0.933
c.422A > C	p.E141A		0.003	0.000
c.435T > G	p.D145E	rs12621643	0.712	0.724
c.471G > A	p.E157E		0.042	0.023
*c.19G > C**	3'UTR	rs10189762	0.059	0.046
KCNE5: [NM_012282.2/NP_036414.1]
c.97C > T	p.P33S	rs17003955	0.206*	0.150*	AF	[22, 42]
* gender corrected value

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