Table 1. Disease causing point mutations at analogous phosphoinositide (PIP) binding residues in Naᵥ subtypes (described in the UniProt database).
| Naᵥ1.4 residue # | Analogous residue # | Subtype | Disease information; mechanism |
|---|---|---|---|
| K1330 | K1505N | Naᵥ1.5 | Long QT3 syndrome; unknown significance |
| R1463 | K1641N | Naᵥ1.2 | Benign familial infantile seizure; unknown significance |
| R1469 | R1657C | Naᵥ1.1 | Generalized epilepsy with febrile seizures plus; depolarizing shift in voltage dependence of activation, reduced current, accelerated recovery from slow inactivation |
| R1642C | Naᵥ1.3 | Developmental epileptic encephalopathy; accelerated recovery from inactivation | |
| R1644C R1644H | Naᵥ1.5 | Long QT3 syndrome Brugada syndrome |