Table 1

Characterization of the four ionic currents present in the
Ion Type Current Phase Channel Gene Subunit Mutations and polymorphisms Disorders associated with mutations Source
Na+ Voltage-gated


(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 [13-25]
- 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 [19,22,26,27]
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 [13,14,17-20,22,23,28-37]
- Romano-Ward syndrome
- Short QT syndrome
MiRP1 KCNE2 beta Q9E, A66V, T8A, R27C - Long QT syndrome type 6 [13,14,17-20,22,23,25,28,31,33,36,38]
- Familial atrial fibrillation
- Romano-Ward syndrome


(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 [13,14,17,19,20,23,31,39,40]
- Atrial fibrillation

- Jervell and Lange-Nielsen  syndrome

- Romano-Ward  syndrome

MinK KCNE1 beta G38S, G52A, K69R, D85N, V109I, V14I - Long QT syndrome type 5 [13,14,17-20,22,23,31,34,36,41]
- Jervell and Lange-Nielsen syndrome
- Romano-Ward syndrome

Polak et al.

Polak et al. BMC Pharmacology and Toxicology 2012 13:6   doi:10.1186/2050-6511-13-6

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