Nucleotide Change	Aminoacid Change		Mutation type	Region	Allele Frequency	Reference
G87A	A29A		SNP	N-term	0.17(6,7)	Takahata 2003; Chen et al. 2004; Aydin et al 2005
C100T	R34C		cSNP	N-term	0.04/ 0.048 (3)	Yang et al. 2002; Mank-Seymour 2006
T360G	V120I(1)		cSNP	DI-S1	n.a.	Takahata 2003
	A180G(1)		cSNP	DI-S2	n.a.	Takahata 2003
1141-3 c>a			SNP, intronic variant			Gouas et al. 2005
1339-24 g>a	-		SNP, intronic variant			Mank-Seymour 2006
T840C	C280C		cSNP	N-term	n.a.	Takahata 2003
	N291H		cSNP	N-term	0.016(8)	Mank-Seymour 2006
C1017T	Y339Y		SNP		?	Wattanasirichaigoon et al., 1999
C1654G	R552G(1)		cSNP	DI-DII	n.a.	Takahata 2003
IVS9 -3 c>a	-		SNP, intronic variant		0.14	Aydin et al 2005
IVS10 -24 g>a	-		SNP, intronic variant		0.15	Aydin et al 2005
A1673G	H558R		cSNP	DI-DII	0.08-0.16/ 0.20(6,7, 8, 9)	Iwasa et al 2000; Yang et al 2002; Takahata 2003; Aydin et al 2005; Mank-Seymour 2006 ; Chen et al 2007;
	A572D		cSNP	DI-DII	0.015(8)	Mank-Seymour 2006
C1917G	G639G		SNP	DI-DII	n.a.	Takahata 2003
A2010C	T670T		SNP	DI-DII	n.a.	Takahata 2003
G2182A	V728I		cSNP	DII S1	n.a.	Priori et al unpublished
A2667C	L889L		SNP	DII-S5-S6	n.a.	Takahata 2003
C2961G	H987Q		cSNP	DII-DIII	n.a.	Takahata 2003
A3080G	Q1027R		cSNP	DII-DIII	n.a.	Takahata 2003
G3183A	E1061E		SNP	DII-DIII	0.12	Aydin et al 2005
exon 18 alternative aceptor site	Q1077del(2)		Splice variant		60% of the 400 allele tested	Makielski et al. 2003
C3269T	P1090L		cSNP	DII-DIII	0.04	Iwasa et al 2000
	S1103Y	and comments	cSNP	DII-DIII	YY:0.0 SY:0.13 SS:0.87	Splawski et al. 2002; Chen et al. 2004
G3578A	R1193Q(4)		cSNP (functional effect shown)	DII-DIII	n.a.	Takahata 2003; Arnestad et al 2007
T3723C	Y1241Y		SNP	DII-S5-S6	n.a.	Takahata 2003
G3873A	L1291L		SNP		?	Wattanasirichaigoon et al., 1999
4245+82 a>g	L1291L		SNP, intronic variant		0.328	Chen et al. 2004
4299 +53 t>c	Intron 12		SNP, intronic variant		0.27	Iwasa et al 2000
G4500T	K1500N		SNP	DIII-DIV	?	Wattanasirichaigoon et al., 1999
C4509T	S1503S		SNP	DIII-DIV	?	Wattanasirichaigoon et al., 1999
IVS24+53 t>c	-		SNP, intronic variant	-	0.05	Aydin et al 2005
IVS24 +114 g>a	-		SNP, intronic variant	-	0.12	Aydin et al 2005
C5454T	A1818A		SNP	C-term	n.a.	Wattanasirichaigoon et al., 1999
C5457T	D1819D		SNP	C-term	0.01-0.46(7)	Wang et al, 1995a, Wattanasirichaigoon et al., 1999;Iwasa et al 2000; Chen et al. 2004
C5607T	D1839D		SNP	C-term	n.a.	Shin et al 2004
G5851T	V1951L		cSNP	C-term	0.005(5)	Iwasa et al 2000
	F2004L		cSNP	C-term	n.a.	Arnestad et al 2007
C6017T	P2006L		cSNP	C-term	n.a.	Arnestad et al 2007
G6174A	3' UTR		SNP		0.449	Chen et al. 2004

cSNP = coding SNP, non synonimous nucletotide change: n.a.= not available; (1) -Homozygous change in all patients and controls --> possible ethnic-specific variant. (2) Q1077 is not present in cDNA NM_000335 which has 2015 amino acids but it is present in cDNA AC137587 (2016AA); (3) - Allele frequency in african american- (4) -Found in one Brugada syndrome patient and one healthy japanese subject. This amino acid substitution has also been associated with LQTS. The pathophysiological role is still debated (5) - functional effectcs not reported found in apparently normal individual but the allele frequency is low. (6) - allele frequency reported by Aydin et al 2005;(7) in chinese population allele frequency reported by Chen et al. 2004 : allele frequency of 0.31 among caucasians by Gouas et al. 2005 . (8) Found in patients with drug-induced TdP by Mank-Seymour 2006