Publications:

E1784K, the most common Brugada syndrome and long-QT syndrome type 3 mutant, disrupts sodium channel inactivation through two separate mechanisms.

The Journal Of General Physiology

Peters, Colin H CH; Watkins, Abeline R AR; Poirier, Olivia L OL; Ruben, Peter C PC

Publication Date: 2020-09-07

Variant appearance in text: Nav1.5: K1492E

PubMed Link: 32569350

Variant Present in the following documents:

• Main text
• JGP_202012595.pdf

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An interaction between the III-IV linker and CTD in NaV1.5 confers regulation of inactivation by CaM and FHF.

The Journal Of General Physiology

Gade, Aravind R AR; Marx, Steven O SO; Pitt, Geoffrey S GS

Publication Date: 2020-02-03

Variant appearance in text: LQT3: K1492E

PubMed Link: 31865383

Variant Present in the following documents:

• Main text
• JGP_201912434.pdf

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The voltage-gated sodium channel EF-hands form an interaction with the III-IV linker that is disturbed by disease-causing mutations.

Scientific Reports

Gardill, Bernd R BR; Rivera-Acevedo, Ricardo E RE; Tung, Ching-Chieh CC; Okon, Mark M; McIntosh, Lawrence P LP; Van Petegem, Filip F

Publication Date: 2018-03-14

Variant appearance in text: Nav1.5: K1492E

PubMed Link: 29540853

Variant Present in the following documents:

• 41598_2018_22713_MOESM1_ESM.pdf

View BVdb publication page