From: The KCNE genes in hypertrophic cardiomyopathy: a candidate gene study
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 | Â | 0.000 | 0.005 | Â | Â |
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 | |
KCNE2: [NM_172201.1/NP_751951.1] | ||||||
c.22A > G | p.T8A | rs2234916 | 0.043 | 0.005 | IVF, drug-induced | Â |
KCNE3: [NM_005472.4/NP_005463.1] | ||||||
c.2T > C | p.M1T | Â | 0.003 | 0.000 | Â | Â |
c.198T > C | p.F66F | rs2270676 | 0.104 | 0.080 | Â | Â |
c.248G > A | p.R83H | rs17215437 | 0.003 | 0.011 | Hypokalemia | |
KCNE4: [NM_080671.2/NP_542402.2] | ||||||
c.69C > T | p.S23S | rs12720447 | 0.011 | 0.006 | Â | Â |
c.81C > T | p.G27G | rs3795886 | 0.730 | 0.717 | Â | Â |
c.264T > C | p.P88P | rs10201907 | 0.949 | 0.933 | Â | Â |
c.422A > C | p.E141A | Â | 0.003 | 0.000 | Â | Â |
c.435T > G | p.D145E | rs12621643 | 0.712 | 0.724 | Â | Â |
c.471G > A | p.E157E | Â | 0.042 | 0.023 | Â | Â |
c.*19G > C | 3'UTR | rs10189762 | 0.059 | 0.046 | Â | Â |
KCNE5: [NM_012282.2/NP_036414.1] | ||||||
c.97C > T | p.P33S | rs17003955 | 0.206* | 0.150* | AF | |
* gender corrected value | Â | Â | Â | Â | Â |