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. 2024 Mar 11;12:RP91218. doi: 10.7554/eLife.91218

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