Supplemental table.
Literature search for evidence of disease causation of the 39 LQTS associated variants identified in ESP
Level of LQTS evidence
Amino
References
Gene
Family
acid
Functional data
Co-segregation
A178T
Equivocal
No data available (Tanaka et al., 1997) - Described as GCC>ACC A49T
Yes, but incomplete
V205M
Loss of function (Arbour et al., 2008)
penetrance
P320H
Yes
Loss of function (Thomas et al., 2010)
R397W No data available No data available (Moss et al., 2007)
R451Q
No data available No data available (W. Shimizu et al., 2004)
R452W No data available No data available (Tester, Will, Haglund, & Ackerman, 2005)
KCNQ1
K526E
No data available No data available (Tester et al., 2005)
D611N
No data available No data available (Hedley et al., 2009)
Yes, but incomplete
G643S
Loss of function (Kubota et al., 2001)
penetrance
P347S
Equivocal
Loss of function (Saenen et al., 2007)
K638E
No data available No data available (Splawski et al., 2000)
KCNH2
R885C
No data available
No effect
(Rhodes et al., 2008)
R887H
No data available No data available (Tester et al., 2005)
T983I
No data available No data available (Tester et al., 2005)
S216L
No data available
Gain of function (P. Wang et al., 2010)
E462K
No data available No data available (Tester et al., 2005)
A572D
No
Gain of function (Albert et al., 2008), (A. Paulussen et al., 2003)
Gain of function
G615E
No data available
(Albert et al., 2008), (P. Yang et al., 2002)
/ No effect
L618F
No data available
No effect
(P. Yang et al., 2002)
L619F
Equivocal
Gain of function (Wehrens et al., 2003)
R689H
No data available No data available (Napolitano et al., 2005)
Q692K
No data available No data available (Van Langen et al., 2003)
SCN5A R1193Q No data available
Gain of function (Q. Wang et al., 2004)
T1304M
Yes
Gain of function (P. Wang et al., 2010),(Wattanasirichaigoon et al., 1999)
T1779M No data available No data available (Tester et al., 2005)
S1787N No data available
Gain of function (Tan et al., 2011)
S1904L
Equivocal
Gain of function (Bankston et al., 2007)
(P. Wang et al., 2010), (Shim, Ito, Maher, & Milunsky,
V1951L No data available
Gain of function
2005)
R1958Q No data available No data available (Tester et al., 2005)
Yes, but incomplete
(P. Wang et al., 2010), (Shim et al., 2005), (Skinner et al.,
P2006A
Gain of function
penetrance
2011)
ANK2
(Nishio et al., 2009), (Westenskow, Splawski, Timothy,
KCNE1
D85N
No data available
Loss of function
Keating, & Sanguinetti, 2004)
V109I
Equivocal
Loss of function (Schulze-Bahr et al., 2001)
T8A
No data available
Loss of function (Sesti et al., 2000)
M54T
No data available
Loss of function (Abbott et al., 1999), (Sesti et al., 2000)
(Abbott et al., 1999), (Tinel, Diochot, Borsotto,
KCNE2
No effect /
I57T
Equivocal
Lazdunski, & Barhanin, 2000), (P J Schwartz, Moss,
Loss of function
Vincent, & Crampton, 1993), (Sesti et al., 2000)
R77W
No data available
No effect
(Chevalier et al., 2007)
KCNJ2
CACNA1C
CAV3
T78M
No data available
Gain of function (Cronk et al., 2007), (Vatta et al., 2006)
SCN4B
AKAP9
S1570L
Yes
Loss of function (L. Chen et al., 2007)
SNTA1
A390V
No data available
Gain of function (Ueda et al., 2008)
KCNJ55
-
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