Allele frequencies of the uncommon variant are reported for polymorphisms  

Nucleotide Change	Aminoacid Change		Mutation Type	Protein Domain	Allele Frequency	Phenotype	References
9_12delGTCT	L3fs+4X		Frame shift	N-term			Kapplinger et al 2009
Ins13T	5X		Insertion	Extracellular		JNLS	Schulze-Bahr et al.
13InsT	S4fs+0X		Frame shift	N-term			Kapplinger et al 2009
C20T	T7I		Missense	Extracellular		JNLS	Schulze-Bahr et al. (1997)
C23T	A8V		Missense	N-term			Kapplinger et al 2009
C29T	T10M		Missense	N-term			Kapplinger et al 2009
G50A	W17X		Nonsense	N-term			Kapplinger et al 2009
n.d.	D (11-38)		Deletion#	Extracellular		-	Abitbol et al., (1999)
IVS2 -129t>c	-		SNP	Extracellular	0.41	-	Aydin et al 2004
IVS2 -128g>a	-		SNP	Extracellular	0.402	-	Aydin et al 2004
IVS2 -59t>c	-		SNP	Extracellular	0.01	-	Aydin et al 2004
C83T	S28L		Missense	Extracellular		RW+AVblock	Shim et al 2005
G84A	S28S (1)		SNP	Extracellular	0.02(2) / 0.01(3)	-	Jongbloed et al. 2002; Aydin et al 2004
G95A	R32H		Missense	Extracellular		RWS	Splawki et al. 2000
G107A	R36H		Missense	Extracellular		RWS	Napolitano et al 2005
A112G	S38G		SNP	Extracellular	0.69(2,3) / 0.38 for S38G (3)	-	Lai et al. (1994); Aydin et al 2004
n.d.	D (39-43)		Deletion#	Extracellular		-	Abitbol et al., (1999)
n.d.	D39N		Missense#	Extracellular		-	Abitbol et al., (1999)
n.d.	D (L42)		Deletion#	Extracellular		-	Abitbol et al., (1999)
n.d.	E43N		Missense#	Extracellular		-	Abitbol et al., (1999)
n.d.	V47H-L51H		Missense#	Transmembrane		JLNS	Bianchi et al. (1999)
G154A	G52R		Missense	Transmembrane		RWS	Ma et al. 2003
G155C	G52A		SNP	Transmembrane	Black 0.3 Asian 0.0 White 0.0 Hispanic 0.0	N	Ackerman et al 2003
T158C	F53S		Missense	Transmembrane			Napolitano et al 2005
n.d.	T59P-L60P		Missense	Transmembrane		JLNS	Tyson et al. (1997)
n.d.	S68T		Missense#	Cytoplasmatic		-	Abitbol et al., (1999)
G163A	G55S		Missense	Transmembrane			Kapplinger et al 2009
A172C	T58P		Missense	Transmembrane			Kapplinger et al 2009
T176C	L59P		Missense	Transmembrane			Kapplinger et al 2009
A206G	K69R		Polymoprhism	Transmembrane	Black 0.3 Asian 0.0 White 0.0 Hispanic 0.0	N	Ackerman et al 2003
	K70N		Missense	Transmembrane		RWS	Lai et al. 2005
C199T	R67C		Missense	C-term			Kapplinger et al 2009
G200A	R67H		Missense	C-term			Kapplinger et al 2009
A209T	K70M		Missense	C-term			Kapplinger et al 2009
C221T	S74L		Missense#	Cytoplasmatic		RWS	Splawski et al. (1997)
n.d.	S74A		Missense#	Cytoplasmatic		-	Abitbol et al., (1999)
G226A	D76N		Missense	Cytoplasmatic		RWS/JLNS	Schulze-Bahr et al. (1997); Splawski et al. (1997); Duggal et al., 1997
G247A	E83K		Missense	C-term			Kapplinger et al 2009
277_229delACC insTCTA	N75fs+34X		Frameshift	C-term			Kapplinger et al 2009
n.d.	N79D		Missense#	Cytoplasmatic		-	Abitbol et al., (1999)
	Y81C		Missense	Cytoplasnatuc		RWS	Lai et al. 2005
n.d.	Y81F		Missense#	Cytoplasmatic		-	Abitbol et al., (1999)
T259C	W87R		Missense#	Cytoplasmatic		RWS	Bianchi et al. (1999)
n.d.	D (80-129)		Deletion#	Cytoplasmatic		-	Abitbol et al., (1999)
n.d.	D (73-79)		Deletion#	Cytoplasmatic		-	Abitbol et al., (1999)
n.d.	D (73-129)		Deletion#	Cytoplasmatic		-	Abitbol et al., (1999)
G253A	D85N		SNP	Cytoplasmatic	0.03(2,5)/ 0.01 (3)	-	Tesson et al. (1996); Aydin et al 2004
C292A	R98W		Missense	C-term		RWS	Splawski et al. 2000
	V109I		Missense	C-term	(6)	RWS	Schulze-Bahr 2001
-	115X		Deletion	C-term		JLNS	Schulze-Bahr et al
C349T	Q117X		Nonsense	C-term			Kapplinger et al 2009
C374T	T125M		Missense	C-term			Kapplinger et al 2009
C379A	P127T		Missense	C-term		RWS	Splawski et al. 2000
C*124 a>g	-		SNP	3'UTR	0.5	-	Aydin et al 2004
C*132 a>g	-		SNP	3'UTR	0.03	-	Aydin et al 2004
C*456 c>t	-		SNP	3'UTR	0.05		Aydin et al 2004

(1) compound heterozygous with KCNH2 A561T
(2) Allele frequency of the heterozygotes reported by Jongbloed et al 2002
(3) Reported by Aydin et al 2004. Ethnic origin not specified;
(4) Allele frequencies of G38S according to Ackerman et al: Black 36.1; Asian 16.4; White 44.9; Hispanic 48.5
(5) Allele frequencies of D85N according to Ackerman et al: Black 0.7; Asian 0.7; White 1.1; Hispanic 0.0
(6) Allele frequency reported by Ackerman et al 2003 among Black people: 0.3

Other links for KCNE1:

• cDNA[KCNE1],
• Genomic[KCNE1], Genomic[KCNE1]
• GenBank[KCNE1]

# The mutation has been expressed byin-vitro analysis.

- The mutation has been generated forin-vitro expression experiments, but has not been found in patients yet.

n.d. not determined; N = NORMAL

RWS Romano-Ward syndrome

JLNS Jervell and Lange-Nielsen syndrome

aLQTS Acquired long-QT syndrome

 

Contributor: Eric Schulze-Bahr, M.D.