Table 1.
SNP | Allele frequency (%) | Population | Reference | Location | Comments |
---|---|---|---|---|---|
R176W | <1 | White American | Ackerman et al. (2003) N-terminus | N-terminus | Also found in internal screening of 9 terodiline induced TdP cases (Ford et al. (2000). Found in LQTS patients (Laitinen et al., 2000) |
R181Q | <1 | Black American | Ackerman et al. (2003) | N-terminus | |
Del187-189 | <1 | Black American | Ackerman et al. (2003) N-terminus P347S | N-terminus | |
P347S | <1 2 <1 | White American Caucasian Caucasian | Ackerman et al. (2003),Splawski et al. (2000) N-terminus | N-terminus | Identified in subject with cisapride/clarithromycin induced QT prolongation (Paulussen et al., 2004) |
K897T | 16.5 4.2 4 3 | White American Black American Asian Hispanic | Ackerman et al. (2003) C-terminus | C-terminus | Associated with increased risk of cardiac mortality (Linna et al. (2006). Proposed to modify clinical expression of A1116V SNP (Crotti et al., 2005) |
A915V | 2.2 | Asian | Ackerman et al. (2003) C-terminus P917L | C-terminus | |
P917L | <1 <1 | White American Caucasian | Ackerman et al. (2003) C-terminus | C-terminus | Identified in LQTS population (Splawski et al., 2000) |
R1047L | 3 1.8 <1 | Caucasian White American Black American | Ackerman et al. (2003) AstraZeneca, unpublished observation | C-terminus | Association with Dofetilide induced TdP described (Sun et al., 2004) |
A1116V | <1 | Caucasian | AstraZeneca, unpublished observation | C-terminus | Also identified in case study of cardiac arrest caused by ventricular fibrillation (Crotti et al., 2005) |
LQTS, long QT syndrome; SNP, single nucleotide polymorphism; TdP, Torsades de Pointes; WT, wild-type.