. 2018 May 31;8:8443. doi: 10.1038/s41598-018-26723-8

Table 1.

Summary of polymorphisms detected in the present study.

Gene	Nucleotide change	Amino acid change	Position within protein	Exon	Number of carriers		Frequency in control group	P-value
Gene	Nucleotide change	Amino acid change	Position within protein	Exon	NPS (n = 10)	MP (n = 10)	Frequency in control group	P-value
KCNQ1 (LQT1)	C435T	I145I	S1-S2	2	1 (Case N-9)	1 (Case M-2)	0.11	0.9919
	G1638A	S546S	C-terminus	13	1 (Case N-5)	1 (Case M-8)	0.56	0.0009
	G1927A	G643S	C-terminus	16	6 (Case N-2, 3, 5, 7, 8, 10)	1 (Case M-9)	0.11	0.0002
KCNH2 (LQT2)	T1467C	I489I	S2-S3	6	8 (Case N-2, 3, 4, 5, 6, 7, 8, 10)	6 (Case M-1, 2, 3, 5, 6, 9)	0.41	0.2952
	T1539C	F513F	S3	6	8 (Case N-2, 3, 4, 5, 6, 7, 8, 10)	6 (Case M-1, 2, 3, 5, 6, 9)	0.37	0.1613
	G1692A	L564L	S5	7	0	1 (Case M-2)	0.03	0.4151
	A2690C	K897T	C-terminus	11	1 (Case N-10)	1 (Case M-5)	0.06	0.8071
	G2732C	G911G	C-terminus	12	2 (Case N-4, 7)	1 (Case M-8)	0.27	0.4615

Nucleotide numbering begins from the ATG start codon. NCBI GenBank accession numbers: AF000571 (KCNQ1) and AF363636 (KCNH2).

The control group comprised 100 Japanese individuals without LQTS (ref.¹⁹).

P-values < 0.05 were considered statistically significant.