Table 3.
The genes and associated coding variants that have been found to be associated with drug-induced arrhythmias
Genes | Associated phenotype | Variants | Functional assessment | Studies |
---|---|---|---|---|
SCN5A | LQT3 | S1102Y | Yes | Splawski et al., 2002 23 |
G1844A, C1852T, T3748C | Yes | Yang et al., 2002 25 | ||
KCNH2 | LQT2 | C2350T | Yes | Yang et al., 2002 25 |
P347S | Yes | Paulussen et al., 2004 26 | ||
R1033W | No | Ramirez et al., 2012 30 | ||
KCNQ1 | LQT1 | C1747T | Yes | Yang et al., 2002 25 |
Y315C | Yes | Napolitano et al., 2000 24 | ||
KCNE1 | LQT5 | D85N | Yes | Paulussen et al., 2004 26 and Kaab et al., 2011 4 |
KCNE2 | LQT6 | T8A | Yes | Paulussen et al., 2004 26, Sesti et al., 2000 21, Abbott et al., 1999 22 |
NOS1AP | QT interval | rs10919035† | Yes | Jamshidi et al., 2012 42 |
CACNA1C | LQT8 | A1733V | No | Ramirez et al., 2012 30 |
AKAP9 | LQT11 | Q3531E | No | Ramirez et al., 2012 30 |
SNTA1 | LQT12 | T147N | No | Ramirez et al., 2012 30 |
KCND3 | Brugada syndrome | R566C | No | Ramirez et al., 2012 30 |
GPD1L | Brugada syndrome | V249M | No | Ramirez et al., 2012 30 |
RYR2 | Catecholaminergic polymorphic ventricular tachycardia | L555V, L2607P, E4361Q | No | Ramirez et al., 2012 30 |
CACNB2 | Short QT syndrome | M1V, I170V | No | Ramirez et al., 2012 30 |
KCNN3 | Atrial fibrillation | F315L | No | Ramirez et al., 2012 30 |
PPP2R3A | F1000L | No | Ramirez et al., 2012 30 | |
AKAP7 | Q112R | No | Ramirez et al., 2012 30 | |
APLP2 | R504L | No | Ramirez et al., 2012 30 | |
ATP2A2 | S184C | No | Ramirez et al., 2012 30 | |
AKAP6 | V839A | No | Ramirez et al., 2012 30 | |
ZFHX3 | K3689E, T3640M, H3611Y, L741F, G117S | No | Ramirez et al., 2012 30 | |
JPH3 | R656W | No | Ramirez et al., 2012 30 | |
CALR | D165G | No | Ramirez et al., 2012 30 | |
JPH2 | V345L, T286A | No | Ramirez et al., 2012 30 |
LQTX, subtype of the congenital long QT syndrome;
Non-coding variant associated with dLQTS.