List of CPVT mutations examined in this study
| Position . | Age at diagnosis (yr), gender (arrhythmic event) . | Domain . | Reference . |
|---|---|---|---|
| V2321M | 22, F (SUD) | Helical domain, helix 5a | Nishio et al. (2008) |
| R2474S | 8, M (syncope)a; 7, M (SUD)a | Helical domain, helix 7a | Priori et al. (2001, 2002) |
| D3638A | 2, M (SCD) | Central domain, helix 1 | Kawamura et al. (2013) |
| Q4201R | 14, M; 23, M; 29, M; 27, F (SCD); 46–74, 2F and 1M (asymptomatic) | Central domain, just after helix 23 (U-motif) | Laitinen et al. (2001) |
| K4392R | 26, F; mother is not affected | Divergent region 1 (not conserved) | Arakawa et al. (2015) |
| R4497C | 30, F (palpitation); 14, F, 16, F (SCD); 28, 36 (biVT on exercise test); 59, F (asymptomatic) | S1′ | Priori et al. (2001) and Tester et al. (2004) |
| K4751Q | 6, F (CPVT and AF) | Joint region between S4 and S4–S5 linker | Kawamura et al. (2013) and Uehara et al. (2017) |
| H4762P | 13, F (VT)b; mother and two children are clinically unaffected | S4–S5 linker | Postma et al. (2005) |
| K4805R | 2, F | Pore forming loop | Medeiros-Domingo et al. (2009) and Lieve et al. (2019) |
| I4867M | 9, M | S6 | Priori et al. (2002) |
| Position . | Age at diagnosis (yr), gender (arrhythmic event) . | Domain . | Reference . |
|---|---|---|---|
| V2321M | 22, F (SUD) | Helical domain, helix 5a | Nishio et al. (2008) |
| R2474S | 8, M (syncope)a; 7, M (SUD)a | Helical domain, helix 7a | Priori et al. (2001, 2002) |
| D3638A | 2, M (SCD) | Central domain, helix 1 | Kawamura et al. (2013) |
| Q4201R | 14, M; 23, M; 29, M; 27, F (SCD); 46–74, 2F and 1M (asymptomatic) | Central domain, just after helix 23 (U-motif) | Laitinen et al. (2001) |
| K4392R | 26, F; mother is not affected | Divergent region 1 (not conserved) | Arakawa et al. (2015) |
| R4497C | 30, F (palpitation); 14, F, 16, F (SCD); 28, 36 (biVT on exercise test); 59, F (asymptomatic) | S1′ | Priori et al. (2001) and Tester et al. (2004) |
| K4751Q | 6, F (CPVT and AF) | Joint region between S4 and S4–S5 linker | Kawamura et al. (2013) and Uehara et al. (2017) |
| H4762P | 13, F (VT)b; mother and two children are clinically unaffected | S4–S5 linker | Postma et al. (2005) |
| K4805R | 2, F | Pore forming loop | Medeiros-Domingo et al. (2009) and Lieve et al. (2019) |
| I4867M | 9, M | S6 | Priori et al. (2002) |