Table 1.
Mutations observed in patients with both sinus bradycardia and LQTSa.
| LQTS type | Gene | Protein | Patient groups | Mutations |
|---|---|---|---|---|
| LQT1 | KCNQ1 | KV7.1 | Single patient | c.387-5 T>A, R174H, L175fsX, G179S, G325R, S338F, F339S, F339del, A344V, K422fsX, T587M, A590T |
| Multiple single patients | R231C, A341V, D611Y | |||
| LQT2 | KCNH2 | KV11.1 | Single patient | R534C, A561V |
| Small family | K638del | |||
| LQT3 | SCN5A | NaV1.5 | Small family | QKP1507–1509del |
| Large family | 1795insD | |||
| Multiple families | KPQ1505–1507del (ΔKPQ), E1784K | |||
| LQT4 | ANK2 | Ankyrin-B | Single patient | I1855R |
| Multiple single patients | R1788W | |||
| Multiple families | E1425G | |||
| LQT5 | KCNE1 | KCNE1 (minK) | Single patient | A8V, D85N, R98W |
| Multiple single patients | D85N | |||
| Small family | D85N | |||
| LQT6 | KCNE2 | KCNE2 (MirP1) | Multiple single patients | M54T |
| LQT7 | KCNJ2 | Kir2.1 | – | – |
| LQT8 | CACNA1C | CaV1.2 | Single patient | A582D, P857R, R858H |
| LQT9 | CAV3 | Caveolin-3 | Multiple single patients | T78M |
| LQT10 | SCN4B | NaVβ4 | Single patient | L179F |
| LQT11 | AKAP9 | Yotiao | – | – |
| LQT12 | SNTA1 | α1-syntrophin | – | – |
| LQT13 | KCNJ5 | Kir3.4 (GIRK4) | – | – |
| LQT14 | CALM1 | Calmodulin | Single patient | E105A |
| Multiple single patients | F142L | |||
| LQT15 | CALM2 | Calmodulin | Single patient | D96V, N98I, D132H |
| LQT16 | CALM3 | Calmodulin | Single patient | D96H, F142L |