POLYMORPHISMS TABLE

Nucleotide Change	Aminoacid Change		Mutation Type	Region	Allele Frequency	Phenotype	Reference
IVS2+27 g>c	-		Intrronic variant	Intron 2	0.01(1)	N	Jongbloed et al. 2002
A98C	N33T see also		cSNP	N.term	Black 0.0 Asian 0.0 White 0.5 Hispanic 0.0	N	Ackerman et al 2003
473-34 a>g	-		Intronic variant	-	-	(may cause allelic dropout)	Tester et al 2006
C526T	R176W		cSNP	N.term	Black 0.0 Asian 0.0 White 0.05/0.03 Hispanic 0.0	N	Ackerman et al 2003; Mank-Seymour 2006
G542A	R181Q		cSNP	N-term	Black 1.3 Asian 0.0 White 0.0 Hispanic 0.0	N	Ackerman et al 2003
G559A	G187S		cSNP	N-term	Black 0.3 Asian 0.0 White 0.0 Hispanic 0.0	N	Ackerman et al 2003
559-567del	187-189GAGdel		Deletion (in frame)	N-term	Black 1.0 Asian 0.0 White 0.0 Hispanic 0.0	N	Ackerman et al 2003
G568A	A190T		cSNP	N-term	Black 0.3 Asian 0.0 White 0.0 Hispanic 0.0	N	Ackerman et al 2003
G607A	A203T		cSNP	N-term	Black 0.3 Asian 0.0 White 0.0 Hispanic 0.0	N	Ackerman et al 2003
T644G	V215G		cSNP	N-term	Black 0.0 Asian 0.0 White 0.5 Hispanic 0.0	N	Ackerman et al 2003
C751G	P251A		cSNP	N-term	Black 0.0 Asian 0.0 White 0.0 Hispanic 0.8	N	Ackerman et al 2003
C762G	H254Q		cSNP	N-term	Black 0.0 Asian 0.0 White 0.5 Hispanic 0.0	N	Ackerman et al 2003
A769C	N257H		cSNP	N-term	Black 0.3 Asian 0.0 White 0.0 Hispanic 0.0	N	Ackerman et al 2003
C1039T	P347S		cSNP	N-term	Black 0.0 Asian 0.0 White 0.5 Hispanic 0.0	N	Ackerman et al 2003
A1099T	T367S		cSNP	N-term	Black 0.3 Asian 0.0 White 0.0 Hispanic 0.0	N	Ackerman et al 2003
C1056T	NA		SNP	N-term	C: 0.995/T: 0.005	N	Larsen et al. 2001
C1467T	I489I		SNP	S2-S3	0.33(2)/0.45(1)/0.19(2)	N	Akimoto et al, 1997; Iwasa et al 2000; Larsen et al. 2001;Jongbloed et al. 2002; Aydin et al 2004(2);
					C:0.82/T:0.18
C1539T	F513F		SNP	S3	0.28(2)/0.43(1)/0.19(2)	N	Akimoto et al, 1997; Iwasa et al 2000; Larsen et al. 2001; Jongbloed et al. 2002; Aydin et al 2004
					C:0.82/T:0.18
A1692G	L564L		SNP	S5	0.06 (2)/0.50(1)	N	Akimoto et al, 1997;Iwasa et al 2000; Larsen et al. 2001
					A:0.58/G:0.42
T1956C	Y652Y		SNP	S6	0.12(2)/0.65(1)/0.43(2)	N	Larsen et al. 1999 ; Iwasa et al 2000; Larsen et al. 2001; Jongbloed et al. 2002
					C:0.62/T:0.38
2146 -61a>g	-		SNP		A:0.50/G:0.50	N (may cause allelic dropoout)	Larsen et al. 2001; Tester et al 2006
IVS8 +39 g>a	-		SNP	-	0.28	N	Aydin et al 2004
IVS8 +40 g>a	-		SNP	-	0.28	N	Aydin et al 2004
T2167C	C723R		cSNP	C-term	Black 0.0 Asian 0.0 White 0.5 Hispanic 0.0	N	Ackerman et al 2003
2965 +22 a>g	Intron 12		SNP	C-term	0.22	N	Iwasa et al 2000
G2617A	G873S		cSNP	C-term	Black 0.3 Asian 0.0 White 0.0 Hispanic 0.0	N	Ackerman et al 2003
C2624T	T875M		cSNP	C-term	-	N	Koo et al 2006
	R887H		cSNP	C-term		N	Mank-Seymour 2006
A2690C	K897T(3)	and comments	cSNP	C-term	0.02-0.21(4,5) 0.41(1)/0.25(2)	Silent	Iwasa et al 2000; Yang et al 2002(2); Aydin et al 2004;Mank-Seymour 2006
IVS13 +12c>a	Intron 13		SNP	C-term	A:0.01/C:0.99	N	Larsen et al. 2001
C2729T	P910L		cSNP	C-term	Black 0.3 Asian 0.0 White 0.0 Hispanic 0.0	N	Ackerman et al 2003
C2744T	A915V		cSNP	C-term	Black 0.0 Asian 4.5 White 0.0 Hispanic 0.0	N	Ackerman et al 2003
C2750T	P917L		cSNP	C-term	Black 0.0 Asian 0.0 White 1.6 Hispanic 0.0	N	Ackerman et al 2003; Mank-Seymour 2006.
G2893A	G965R		cSNP	C-term			Koo et al 2006
C2900T	P967L		cSNP	C-term	Black 0.3 Asian 0.0 White 0.0 Hispanic 0.0	N	Ackerman et al 2003
3067-3069del	L1023del		Deletion	C-term	Black 0.0 Asian 0.0 White 0.5 Hispanic 0.0	N	Ackerman et al 2003
C3103T	R1035W		cSNP	C-term	Black 0.3 Asian 0.0 White 0.0 Hispanic 0.0	N	Ackerman et al 2003
G3140T	R1047L		cSNP	C-term	R:0.96/L:0.04(6)	N	Larsen et al. 2001; Mank-Seymour 2006.
IVS13 +22a>g	Intron 13		SNP-Intronic	C-term	A:0.10/G:0.90 /0.48(1)	N	Larsen et al. 2001; Jongbloed et al. 2002
G3164A	R1055Q		cSNP	C-term			Koo et al 2006
C3173A	A1058E		cSNP	C-term	Black 0.3 Asian 0.0 White 0.0 Hispanic 0.0	N	Ackerman et al 2003
A3203G	Q1068R		cSNP	C-term	Black 0.3 Asian 0.0 White 0.0 Hispanic 0.0	N	Ackerman et al 2003
C3322G	L1108V		cSNP	C-term			Koo et al 2006
G3460A	G1154S		cSNP	C-term			Koo et al 2006

N.A. = not available; cSNP = coding SNP (i.e. polymoprhism having and effect on protein sequence)
(1) frequency of heterozygotes
(2) Frequency of the minor allele has been reported by Iwasa et al. only for Japanese population.. Aditional data reported by Aydin et al 2004:
(3) Associated with variations in QTc interval duration (see EP data)
(4) Minor allele frequencies, in drug-induced Torsade de Pointes by Yang et al.and by Mank-Seymour 2006. Functional assays not performed. (2) Allelic frequency of 0.14 in patients with drug-induced QT interval prolongation (Yang et al 2002).
(5) Allele frequencies of K897T according to Ackerman et al: Black 8.2; Asian 7.5; White 33.1; Hispanic 6.8
(6) Allele frequencies of R1047T according to Ackerman et al: Black 0.3; Asian 0.0; White 3.7; Hispanic 0.0