PubMed 18503232

Referenced in Channelpedia wiki pages of: none

Automatically associated channels: Nav1.5

Title: Absence of a trafficking defect in R1232W/T1620M, a double SCN5A mutant responsible for Brugada syndrome.

Authors: Naomasa Makita, Naoki Mochizuki, Hiroyuki Tsutsui

Journal, date & volume: Circ. J., 2008 Jun , 72, 1018-9

PubMed link:

A trafficking defect of mutant cardiac Na-channels (SCN5A) has been implicated in Brugada syndrome. Although R1232W polymorphism and T1620M mutation by themselves have little effect on Na-channel function, their combination has been reported to disrupt membrane trafficking, resulting in a non-functioning Na channel.Contrary to previous findings, patch-clamp recordings of heterologously expressed R1232W/T1620M showed robust Na currents and confocal microscopy exhibited predominant expression in the plasma membrane, similar to the wild-type channel.It is unlikely that an intragenic interaction between R1232W and T1620M of SCN5A causes a trafficking defect leading to a non-functioning Na channel.