Characterization of the novel heterozygous <i>SCN5A</i> genetic variant Y739D associated with Brugada syndrome.

Zaytseva, Anastasia K; Kiselev, Artem M; Boitsov, Alexander S; Fomicheva, Yulia V; Pavlov, Georgii S; Zhorov, Boris S; Kostareva, Anna A

Characterization of the novel heterozygous SCN5A genetic variant Y739D associated with Brugada syndrome.

Zaytseva, Anastasia K; Kiselev, Artem M; Boitsov, Alexander S; Fomicheva, Yulia V; Pavlov, Georgii S; Zhorov, Boris S; Kostareva, Anna A.

Afiliação

Zaytseva AK; Almazov National Medical Research Centre, St. Petersburg, 197341, Russia.
Kiselev AM; Sechenov Institute of Evolutionary Physiology & Biochemistry, Russian Academy of Sciences, St. Petersburg, 194223, Russia.
Boitsov AS; Almazov National Medical Research Centre, St. Petersburg, 197341, Russia.
Fomicheva YV; Institute of Cytology, Russian Academy of Sciences, Saint Petersburg, Russia.
Pavlov GS; Almazov National Medical Research Centre, St. Petersburg, 197341, Russia.
Zhorov BS; Almazov National Medical Research Centre, St. Petersburg, 197341, Russia.
Kostareva AA; Almazov National Medical Research Centre, St. Petersburg, 197341, Russia.

Biochem Biophys Rep ; 30: 101249, 2022 Jul.

Article em En | MEDLINE | ID: mdl-35300108

Palavras-chave

BrS, Brugada syndrome; Brugada syndrome; Homology modeling; INa, Sodium current; MC, Monte Carlo; MCM, MC-minimization; Nav, Voltage gated sodium channels; P-loops, Membrane-diving extracellular loops between helices S5 and S6; P1 and P2, P-loop helices N- and C-terminal, respectively, to the selectivity filter residues; S1-S6, transmembrane helices in Nav1.5; SCN5A; Sodium channel; Sodium channelopathies; VSD, Voltage-Sensing Domain; hNav1.5, human Nav1.5; rNav1.5, rat Nav1.5

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Risk_factors_studies Idioma: En Revista: Biochem Biophys Rep Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Federação Russa

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