SCN5A c.1226T>C ;(p.L409P)

Variant ID: 3-38647554-A-G

NM_000335.4(SCN5A):c.1226T>C;(p.L409P)

This variant was identified in 12 publications

View GRCh38 version.




Publications:


Induced Pluripotent Stem Cell-Derived Cardiomyocytes with SCN5A R1623Q Mutation Associated with Severe Long QT Syndrome in Fetuses and Neonates Recapitulates Pathophysiological Phenotypes.

Biology
Hayama, Emiko E; Furutani, Yoshiyuki Y; Kawaguchi, Nanako N; Seki, Akiko A; Nagashima, Yoji Y; Okita, Keisuke K; Takeuchi, Daiji D; Matsuoka, Rumiko R; Inai, Kei K; Hagiwara, Nobuhisa N; Nakanishi, Toshio T
Publication Date: 2021-10-18

Variant appearance in text: Nav1.5: L409P
PubMed Link: 34681161
Variant Present in the following documents:
  • Main text
  • biology-10-01062.pdf
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Reengineering an Antiarrhythmic Drug Using Patient hiPSC Cardiomyocytes to Improve Therapeutic Potential and Reduce Toxicity.

Cell Stem Cell
McKeithan, Wesley L WL; Feyen, Dries A M DAM; Bruyneel, Arne A N AAN; Okolotowicz, Karl J KJ; Ryan, Daniel A DA; Sampson, Kevin J KJ; Potet, Franck F; Savchenko, Alex A; Gómez-Galeno, Jorge J; Vu, Michelle M; Serrano, Ricardo R; George, Alfred L AL; Kass, Robert S RS; Cashman, John R JR; Mercola, Mark M
Publication Date: 2020-11-05

Variant appearance in text: SCN5A: L409P
PubMed Link: 32931730
Variant Present in the following documents:
  • Main text
View BVdb publication page



Structures Illuminate Cardiac Ion Channel Functions in Health and in Long QT Syndrome.

Frontiers In Pharmacology
Brewer, Kathryn R KR; Kuenze, Georg G; Vanoye, Carlos G CG; George, Alfred L AL; Meiler, Jens J; Sanders, Charles R CR
Publication Date: 2020

Variant appearance in text: SCN5A: L409P
PubMed Link: 32431610
Variant Present in the following documents:
  • Main text
  • Table_1.xlsx, sheet 1
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Complex and Novel Arrhythmias Precede Stillbirth in Fetuses With De Novo Long QT Syndrome.

Circulation. Arrhythmia And Electrophysiology
Strand, Sarah S; Strasburger, Janette F JF; Cuneo, Bettina F BF; Wakai, Ronald T RT
Publication Date: 2020-05

Variant appearance in text: SCN5A: L409P
PubMed Link: 32421437
Variant Present in the following documents:
  • Main text
View BVdb publication page



Heritable arrhythmia syndromes associated with abnormal cardiac sodium channel function: ionic and non-ionic mechanisms.

Cardiovascular Research
Rivaud, Mathilde R MR; Delmar, Mario M; Remme, Carol Ann CA
Publication Date: 2020-07-15

Variant appearance in text: SCN5A: L409P
PubMed Link: 32251506
Variant Present in the following documents:
  • Main text
  • cvaa082.pdf
View BVdb publication page



The congenital long QT syndrome Type 3: An update.

Indian Pacing And Electrophysiology Journal
Pérez-Riera, Andrés Ricardo AR; Barbosa-Barros, Raimundo R; Daminello Raimundo, Rodrigo R; da Costa de Rezende Barbosa, Marianne Penachini MP; Esposito Sorpreso, Isabel Cristina IC; de Abreu, Luiz Carlos LC
Publication Date: 2018

Variant appearance in text: SCN5A: L409P
PubMed Link: 29101013
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



Switch From Fetal to Adult SCN5A Isoform in Human Induced Pluripotent Stem Cell-Derived Cardiomyocytes Unmasks the Cellular Phenotype of a Conduction Disease-Causing Mutation.

Journal Of The American Heart Association
Veerman, Christiaan C CC; Mengarelli, Isabella I; Lodder, Elisabeth M EM; Kosmidis, Georgios G; Bellin, Milena M; Zhang, Miao M; Dittmann, Sven S; Guan, Kaomei K; Wilde, Arthur A M AAM; Schulze-Bahr, Eric E; Greber, Boris B; Bezzina, Connie R CR; Verkerk, Arie O AO
Publication Date: 2017-07-24

Variant appearance in text: SCN5A: L409P
PubMed Link: 28739862
Variant Present in the following documents:
  • Main text
  • JAH3-6-e005135.pdf
View BVdb publication page



Sodium channel biophysics, late sodium current and genetic arrhythmic syndromes.

Pflugers Archiv : European Journal Of Physiology
Chadda, Karan R KR; Jeevaratnam, Kamalan K; Lei, Ming M; Huang, Christopher L-H CL
Publication Date: 2017-06

Variant appearance in text: SCN5A: L409P
PubMed Link: 28265756
Variant Present in the following documents:
  • Main text
  • 424_2017_Article_1959.pdf
View BVdb publication page



In utero diagnosis of long QT syndrome by magnetocardiography.

Circulation
Cuneo, Bettina F BF; Strasburger, Janette F JF; Yu, Suhong S; Horigome, Hitoshi H; Hosono, Takayoshi T; Kandori, Akihiko A; Wakai, Ronald T RT
Publication Date: 2013-11-12

Variant appearance in text: SCN5A: L409P
PubMed Link: 24218437
Variant Present in the following documents:
  • Main text
View BVdb publication page



Arrhythmia phenotype during fetal life suggests long-QT syndrome genotype: risk stratification of perinatal long-QT syndrome.

Circulation. Arrhythmia And Electrophysiology
Cuneo, Bettina F BF; Etheridge, Susan P SP; Horigome, Hitoshi H; Sallee, Denver D; Moon-Grady, Anita A; Weng, Hsin-Yi HY; Ackerman, Michael J MJ; Benson, D Woodrow DW
Publication Date: 2013-10

Variant appearance in text: SCN5A: L409P
PubMed Link: 23995044
Variant Present in the following documents:
  • Main text
View BVdb publication page



Enhanced impact of SCN5A mutation associated with long QT syndrome in fetal splice isoform.

Heart Rhythm
Wang, Tiannan T; Wehrens, Xander H T XH
Publication Date: 2012-04

Variant appearance in text: Nav1.5: L409P
PubMed Link: 22138134
Variant Present in the following documents:
  • Main text
  • nihms661770.pdf
View BVdb publication page



Developmentally regulated SCN5A splice variant potentiates dysfunction of a novel mutation associated with severe fetal arrhythmia.

Heart Rhythm
Murphy, Lisa L LL; Moon-Grady, Anita J AJ; Cuneo, Bettina F BF; Wakai, Ronald T RT; Yu, Suhong S; Kunic, Jennifer D JD; Benson, D Woodrow DW; George, Alfred L AL
Publication Date: 2012-04

Variant appearance in text: SCN5A: L409P
PubMed Link: 22064211
Variant Present in the following documents:
  • Main text
View BVdb publication page