Table 1.
GENE | LOCUS | PROTEIN |
Long QT Syndrome | ||
Major LQTS Genes KCNQ1 (LQT1) KCNH2 (LQT2) SCN5A (LQT3) |
11p15.5 7q35-36 3p21-p24 |
IKs potassium channel α subunit (KvLQT1, Kv7.1) IKr potassium channel α subunit (HERG, Kv11.1) Cardiac sodium channel α subunit (Nav1.5) |
Minor LQTS Genes (listed alphabetically) AKAP9 CACNA1C CALM1 CALM2 CAV3 KCNE1 KCNE2 KCNJ5 SCN4B SNTA1 |
7q21-q22 12p13.3 14q32.11 2p21 3p25 21q22.1 21q22.1 11q24.3 11q23.3 20q11.2 |
Yotiao Voltage gated L-type calcium channel (Cav1.2) Calmodulin Calmodulin Caveolin-3 Kv7.1 potassium channel beta subunit (MinK) Kv11.1 potassium channel beta subunit (MiRP1) Potassium inwardly-rectifying channel (Kir3.4) Sodium channel beta 4 subunit Syntrophin-alpha 1 |
Ankyrin-B Syndrome | ||
ANK2 | 4q25-q27 | Ankyrin B |
Andersen-Tawil Syndrome | ||
KCNJ2 (ATS1) | 17q23 | IK1 potassium channel (Kir2.1) |
Timothy Syndrome | ||
CACNA1C | 12p13.3 | Voltage gated L-type calcium channel (CaV1.2) |