Nucleotide Change	Amino Acid Change		Mutation Type	cDNA/Protein Domain	Allele Frequency (polymorphisms)	Phenotype	References
-77 GA	-		SNP	5'UTR	0.08	-	Aydin et al 2004
-28AG	-		SNP		A:0.982; G:0.018(1) - 0.10(2)	- -	Larsen et al. 2001
IVS1 -44 c>t	-		SNP	-	0.18	-	Aydin et al 2004
IVS1 -16 a>g	-		SNP	-	0.05	-	Aydin et al 2004
A22G	T8A		cSNP#	Extracellular	0.03(2, 3) / 0.01(5)	RWS, aLQTS	Abbott et al. (1999) ; Sesti et al 2000 ; Aydin et al 2004
C25G	Q9E		Missense#	Extracellular	1 (4)	aLQTS ; SIDS	Abbott et al. (1999) ; nonsyn. SNP
C79T	R27C		Missense	Extracellular	-	Atrial Fibrillation	Yang et al 2004
156-161del	52-54del.YLM>X		Deletion	Transmembrane		RWS	Napolitano et al 2005
T161C	M54T		Missense#	Transmembrane	1	RWS/aLQTS	Abbott et al. (1999) ;Sesti et al 2000
A166G+169InsATG	M56V/57InsM		Missense/Insertion	Transmembrane			Napolitano et al 2005
T170C	I57T		Missense#	Transmembrane	1	RWS/aLQTS	Abbott et al. (1999) ;Sesti et al 2000
C176T	F60L		Missense	Transemembrane		TdP/RW	Millat et al. 2006(1)
C197T	A66V		Missense#	Transmembrane	(4)	-	Ackerman et al 2003
C229T	R77W		Missense	Transmembrane		-	Millat et al. 2006(1)
G139A	V65M		Missense#	Transmembrane	2	RWS	Isbrandt et al. 2002
-	A116V		Missense#	Intracellular	1	aLQTS	Sesti et al 2000

⁽¹⁾ Larsen et al; ⁽²⁾ Jongbloed et al. 2002. ⁽³⁾ Found in 1.1% of White people by Ackerman et al 2003.
⁽⁴⁾ Found in 3% of Black people by Ackerman et al 2003. ; Frequency reported by Aydin et al 2004

# The mutation has been expressed by in-vitro analysis. cSNP = conding single nucleotide polymorphism

n.d. not determined

RWS Romano-Ward syndrome; JLNS Jervell and Lange-Nielsen syndrome; aLQTS Acquired long-QT syndrome SIDS = Sudden Infant Death Syndrome
 

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