Nucleotide Change	Amino acid Change		Mutation Type	Region	Phenotype	Reference
G27T	G9V		N-term	N-term	RW	Millat et al. 2006
C52T	R18W		Missense	N-term	RW	Tester et al 2005
G373C	V125L		Missense	N-term	RW	Tester et al 2005
C647T	S216L		Missense	N.term	SIDS	Arnestad et al 2007
G674A	R22Q5		Missense	N-term	RW	Millat et al. 2006
C733A	Q245K		Missense	DI-S4/S5	RW	Tester et al 2005
T1211A	L404Q		Missense	DI-S6	RW	Tester et al 2005
C1218A	N406K		Missense	DI-S6	RW	Tester et al 2005
G1231A	V411M		Missense	DI-S6	RW	Tester et al 2005
G1237A	A413T		Missense	DI-S6	RW	Napolitano et al 2005
C1238A	A413E		Missense	DI-S6	RW	Napolitano et al 2005
G1384A	E462K		Missense	D1-S6	RW	Tester et al 2005
C1715A	A572D		Missense	DII-S5/S6	RW(2)	Paulussen et al 2002; Choi et al 2004; Tester et al 2005
C1717G	Q573E		Missense	I-II	RW	Napolitano et al 2005
G1735A	G579R		Missense	I-II	RW	Napolitano et al 2005
G1844A	G615E		Missense	DI-DII	DITdP (4)	Yang et al 2002; Tester et al 2005
C1852T	L618F		Missense	DI-DII	DITdP (4)	Yang et al 2002; Tester et al 2005
	L619F		Missense	DI-DII	RW	Wehrens et al. 2003
G1915C	G639R		Missense	DI-DII	RW	Millat et al. 2006(1)
C1910T	P637L		Missense	DI-DII	RW	Tester et al 2005
C1943T	P648L		Missense	DI-DII	RW	Tester et al 2005
G2039A	R680H		Missense	I-II	SIDS	Arnestad et al 2007
G2066A	R689H		Missense	I-II	RW	Napolitano et al 2005
C2074A	Q692K		Missense	DII-S1	RW	Van Langen et al 2003
TC2971/2AA	S941N		Missense	DII-DIII	RW /SIDS	Schwartz et al.2000
C2911T	R971C		Missense	DII-DIII	RW	Tester et al 2005
G289T	A997S		Missense	DII-DIII	SIDS	Ackerman et al. 2001
C3206T	T1069M		Missense	DII-DIII	RW	Tester et al 2005
G3304A	D1114N		Missense	DII-DIII	RW (1)	Splawski et al. 2000
G3673A	E1225K		Missense	DIII-S1	RW(see also here)	Tester et al 2005
G3691A	E1231K		Missense	DIII-S1/S2	RW	Tester et al 2005
T3748C	F1250L		Missense	DIII-S2	DITdP (4)	Yang et al 2002
	E1295K		Missense	DIII-S4	RW	Abriel et al 2001
C3910T	T1304M		Missense	DIII-S4	RW	Wattanasirichaigoon D et al. 1999; Arnestad et al 2007
A3974G	N1325S		Missense	DIII-S4/S5	RW	Wang et al, 1995b; Tester et al 2005
G3988C	A1330P		Missense	DIII-S4/S5	RW-SIDS	Wedekind et al. 2001
G3988A	A1330T		Missense	DIII-S4/S5	RW	Van Langen et al 2003
C3995T	P1332L		Missense	DIII-S4/S5	RW+CCD	Kehl HG et al 2004
C3998A	S1333Y		Missense	DIII-S4/S5	IVF	Millat et al. 2006(1)
C4373A	S1458Y		Missense	DIII-S6	RW	Tester et al 2005
G4442A	G1481E		Missense	DIII-DIV	RW	Tester et al 2005
-	F1486L		Missense	DIII-DIV	SIDS	Arnestad et al 2007
T4493C	M1498T		Missense	DIII-DIV	RW	Napolitano et al 2005
C4501G	L1501V		Missense	DIII-DIV	RW	Splawski et al. 2000
4498-4500del	delK1500		Deletion	DIII-DIV	RW + BS + CCD	Grant AO 2002
4511-4519del	delKPQ1505-1507		Deletion	DIII-DIV	RW	Wang et al, 1995, Wang et al, 1995b;Splawski et al. 2000; Tester et al 2005
4519-4528	delQKP1507-1509		Deletion	DIII-DIV	RW	Keller et al. 2003
C4826G	S1609W		Missense	DIV/S3	FAM-SD	Millat et al. 2006(1)
4850-4852del	del F1617		Deletion	DIV-S3/S4	RW	Splawski et al. 2000
G4868A	R1623Q		Missense	DIV- S4	RW	Kambouris et al, 1998, Makita et al, 1998; Miller et al 2004 (5)
G4868T	R1623L		Missense	DIV-S4	RW	Splawski et al. 2000; Tester et al 2005
G4868A	R1623Q		Missense	DIV/S4	RW	Millat et al. 2006(1)
G4877C	R1626P		Missense	DIV-S4	RW	Napolitano et al 2005
G4877C	R1626P		Missense	DIV-S4	RW	Napolitano et al 2005
C4930T	R1644C		Missense	DIV-S4	RW	Napolitano et al 2005
G4931A	R1644H		Missense	DIV- S4	RW	Splawski et al. 2000; Tester et al 2005
C4934T	T1645M		Missense	DIV-S4	RW	Wattanasirichaigoon, et al.
A4978G	I1660V		Missense	DIV-S5	RW	Napolitano et al 2005
G4999A	V1667I		Missense	DIV-S5	RW	Tester et al 2005
G5284A	V1762M		Missense	DIV-S6	RW	Shim et al 2005
G5289A	V1763M		Missense	DIV-S6	RW+AV block	Chang et al. 2004;Tester et al 2005
-	M1766L		Missense	DIV-S6	RW/AV block/SIDS	Valdivia et al. 2002;
A5300G	Y1767C		Missense	DIV-S6	RW	Napolitano et al 2005
A5302G	I1768V		Missense	DIV-S6	RW	Rivolta et al 2002; Van Langen et al 2003
G5328A	V1777M		Missense	C-term	RW+AVblock (3)	Lupoglazof et al. 2001; Tester et al 2005
C5336T	T1779M		Missense	C-term	RW	Tester et al 2005
G5349A	E1784K		Missense	C-term	RW(1)	Wei et al, 1999; Splawski et al. 2000; Tester et al 2005
G5360A	S1787N		Missense	C-term	RW	Splawski et al. 2000
A5369G	D1790G		Missense	C-term	RW	An et al. 1998
5385 insTGA	1795 insD		Insertion	C-term	RW/BS	Bezzina et al. 1999; Van Langen et al 2003
	Y1795C		Missense	C-term	RW	Rivolta et al.; Tester et al 2005
T5474C	L1825P		Missense	C-term	DITdP (4)	Makita et al 2002
G5477A	R1826H		Missense	C-term	SIDS	Ackerman et al. 2001
A5516G	D1840G		Missense	C-term	RW	Benhorin et al. 1998
A5726G	Q1909R		Missense	C-term	RW	Tester et al 2005
G5738A	R1913H		Missense	C-term	RW	Napolitano et al 2005
G5845T	A1949S		Missense	C-term	RW	Tester et al 2005
G5848C	V1950L		Missense	C-term	RW	Shim et al 2005
G5873A	R1958Q		Missense	C-term	RW	Tester et al 2005
C6013G	P2005A (6)		Missense	C.term	RW+AVblock	Shim et al 2005

RW=Romano Ward syndrome SIDS=Sudden Infant Death Syndrome; IVF= Idiopathic Ventricular Fibrillation; (2) Compound heterozygous with KCNQ1 V254M - no-cosegregation with LQT phenotype. (3) Homozygous mutation associated with rate-dependent 2:1 AV block. (4) DITdP = drug-induced Torsades de Pointes and QT interval prolongation. (5) Found in sudden infant death and parental mosaicism; . (6) Found in infant with long QT and 2:1 AV block see here