SCN5A c.1118G>A ;(p.C373Y)

Variant ID: 3-38648182-C-T

NM_000335.4(SCN5A):c.1118G>A;(p.C373Y)

This variant was identified in 10 publications

View GRCh38 version.




Publications:


Depolarization of the conductance-voltage relationship in the NaV1.5 mutant, E1784K, is due to altered fast inactivation.

Plos One
Peters, Colin H CH; Yu, Alec A; Zhu, Wandi W; Silva, Jonathan R JR; Ruben, Peter C PC
Publication Date: 2017

Variant appearance in text: LQT3: C373Y
PubMed Link: 28898267
Variant Present in the following documents:
  • Main text
  • pone.0184605.pdf
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Regulation of Na+ channel inactivation by the DIII and DIV voltage-sensing domains.

The Journal Of General Physiology
Hsu, Eric J EJ; Zhu, Wandi W; Schubert, Angela R AR; Voelker, Taylor T; Varga, Zoltan Z; Silva, Jonathan R JR
Publication Date: 2017-03-06

Variant appearance in text: SCN5A: C373Y
PubMed Link: 28232510
Variant Present in the following documents:
  • Main text
View BVdb publication page



Calmodulin limits pathogenic Na+ channel persistent current.

The Journal Of General Physiology
Yan, Haidun H; Wang, Chaojian C; Marx, Steven O SO; Pitt, Geoffrey S GS
Publication Date: 2017-02

Variant appearance in text: LQT3: C373Y
PubMed Link: 28087622
Variant Present in the following documents:
  • Main text
  • JGP_201611721.pdf
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α1-Syntrophin Variant Identified in Drug-Induced Long QT Syndrome Increases Late Sodium Current.

Plos One
Choi, Jong-Il JI; Wang, Chaojian C; Thomas, Matthew J MJ; Pitt, Geoffrey S GS
Publication Date: 2016

Variant appearance in text: SCN5A: C373Y
PubMed Link: 27028743
Variant Present in the following documents:
  • Main text
  • pone.0152355.pdf
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A novel NaV1.5 voltage sensor mutation associated with severe atrial and ventricular arrhythmias.

Journal Of Molecular And Cellular Cardiology
Wang, Hong-Gang HG; Zhu, Wandi W; Kanter, Ronald J RJ; Silva, Jonathan R JR; Honeywell, Christina C; Gow, Robert M RM; Pitt, Geoffrey S GS
Publication Date: 2016-03

Variant appearance in text: SCN5A: C373Y
PubMed Link: 26801742
Variant Present in the following documents:
  • Main text
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Direct Measurement of Cardiac Na+ Channel Conformations Reveals Molecular Pathologies of Inherited Mutations.

Circulation. Arrhythmia And Electrophysiology
Varga, Zoltan Z; Zhu, Wandi W; Schubert, Angela R AR; Pardieck, Jennifer L JL; Krumholz, Arie A; Hsu, Eric J EJ; Zaydman, Mark A MA; Cui, Jianmin J; Silva, Jonathan R JR
Publication Date: 2015-10

Variant appearance in text: SCN5A: C373Y
PubMed Link: 26283144
Variant Present in the following documents:
  • Main text
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Brugada syndrome disease phenotype explained in apparently benign sodium channel mutations.

Circulation. Cardiovascular Genetics
Hoshi, Malcolm M; Du, Xi X XX; Shinlapawittayatorn, Krekwit K; Liu, Haiyan H; Chai, Sam S; Wan, Xiaoping X; Ficker, Eckhard E; DeschĂȘnes, Isabelle I
Publication Date: 2014-04

Variant appearance in text: SCN5A: C373Y
PubMed Link: 24573164
Variant Present in the following documents:
  • Main text
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Proton sensors in the pore domain of the cardiac voltage-gated sodium channel.

The Journal Of Biological Chemistry
Jones, David K DK; Peters, Colin H CH; Allard, Charlene R CR; Claydon, Tom W TW; Ruben, Peter C PC
Publication Date: 2013-02-15

Variant appearance in text: Nav1.5: C373Y
PubMed Link: 23283979
Variant Present in the following documents:
  • Main text
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Ca2+/calmodulin-dependent protein kinase II-based regulation of voltage-gated Na+ channel in cardiac disease.

Circulation
Koval, Olha M OM; Snyder, Jedidiah S JS; Wolf, Roseanne M RM; Pavlovicz, Ryan E RE; Glynn, Patric P; Curran, Jerry J; Leymaster, Nicholas D ND; Dun, Wen W; Wright, Patrick J PJ; Cardona, Natalia N; Qian, Lan L; Mitchell, Colleen C CC; Boyden, Penelope A PA; Binkley, Philip F PF; Li, Chenglong C; Anderson, Mark E ME; Mohler, Peter J PJ; Hund, Thomas J TJ
Publication Date: 2012-10-23

Variant appearance in text: SCN5A: C373Y
PubMed Link: 23008441
Variant Present in the following documents:
  • Main text
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Expression of skeletal but not cardiac Na+ channel isoform preserves normal conduction in a depolarized cardiac syncytium.

Cardiovascular Research
Protas, Lev L; Dun, Wen W; Jia, Zhiheng Z; Lu, Jia J; Bucchi, Annalisa A; Kumari, Sindhu S; Chen, Ming M; Cohen, Ira S IS; Rosen, Michael R MR; Entcheva, Emilia E; Robinson, Richard B RB
Publication Date: 2009-02-15

Variant appearance in text: Nav1.5: C373Y
PubMed Link: 18977767
Variant Present in the following documents:
  • Main text
View BVdb publication page