Table 1 Characterization of the four ionic currents present in the Tox-Database.net
Ion | Type | Current | Phase | Channel | Gene | Subunit | Mutations and polymorphisms | Disorders associated with mutations | Source |
|---|---|---|---|---|---|---|---|---|---|
Na+ | Voltage-gated | INa (fast sodium current) | 0 | Nav1.5 | SCN5A | alfa | H558R, S216L, del AL 586-587, R680H, R1193Q, T1304M, F1486L, V1951L, F2004L P2006A, S1103Y, R190G, A572D | - Long QT syndrome type 3 | |
- Sudden cardiac death | |||||||||
- Risk Factor for Atrial Fibrillation | |||||||||
- Brugada syndrome | |||||||||
- Idiopathic ventricular fibrillation | |||||||||
- Heart rhythm disorders | |||||||||
- Romano-Ward syndrome | |||||||||
- SIDS (Sudden infant death syndrome) | |||||||||
Ca 2+ | Voltage-gated | ICaL (L-type calcium current) | 2 | CaV1.2 | CACNA1C | alfa 1 C | G406R, G402S | - Timothy syndrome | |
K+ | Voltage-gated | IKr (rapid delayed rectifier potassium current) | 3 | Kv11.1 | KCNH2 (hERG) | alfa | P347S, R1047L, A1116V, K897T, P967L, Q1068R, R181Q, G187S, GAG187-189del, A190T, A203T, N257H, T367S, G873S, P910L, R1035W, A1058E, N33T, R176W, V215G, H254Q, C723R, P917L, L1023del, A915V, P251A, G965R, R1055Q, L1108V, G1154S, T875M, R273Q, V279M, R885C, S1040G, G294V, A190T, N588K | - Long QT syndrome type 2 | |
- Romano-Ward syndrome | |||||||||
- SIDS | |||||||||
- Short QT syndrome | |||||||||
MiRP1 | KCNE2 | beta | Q9E, A66V, T8A, R27C | - Long QT syndrome type 6 | |||||
- Familial atrial fibrillation | |||||||||
- Romano-Ward syndrome | |||||||||
- SIDS | |||||||||
IKs (slow delayed rectifier potassium current) | 3 | KvLQT1 (Kv7.1) | KCNQ1 | alfa | IAP54-56dup, V129I, V207M, G297S, F335L, P408A, P448R, R451Q, G621S, G643S, V648I, V110I, K393N, D428G, R519H, P441S, G119D, I274V, G460S, V307L, T600M, V648I | - Long QT syndrome type 1 | |||
- Atrial fibrillation | |||||||||
- Jervell and Lange-Nielsen syndrome - Romano-Ward syndrome | |||||||||
- SIDS | |||||||||
MinK | KCNE1 | beta | G38S, G52A, K69R, D85N, V109I, V14I | - Long QT syndrome type 5 | |||||
- Jervell and Lange-Nielsen syndrome | |||||||||
- Romano-Ward syndrome |