SCN5A c.1058C>T ;(p.T353I)

Variant ID: 3-38648242-G-A

NM_000335.4(SCN5A):c.1058C>T;(p.T353I)

This variant was identified in 20 publications

View GRCh38 version.




Publications:


Plant and fungi derived analgesic natural products targeting voltage-gated sodium and calcium channels.

Channels (Austin, Tex.)
Calderon-Rivera, Aida A; Loya-Lopez, Santiago S; Gomez, Kimberly K; Khanna, Rajesh R
Publication Date: 2022-12

Variant appearance in text: SCN5A: T353I
PubMed Link: 36017978
Variant Present in the following documents:
  • Main text
  • KCHL_16_2103234.pdf
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Genomic and Non-Genomic Regulatory Mechanisms of the Cardiac Sodium Channel in Cardiac Arrhythmias.

International Journal Of Molecular Sciences
Daimi, Houria H; Lozano-Velasco, Estefanía E; Aranega, Amelia A; Franco, Diego D
Publication Date: 2022-01-26

Variant appearance in text: SCN5A: T353I
PubMed Link: 35163304
Variant Present in the following documents:
  • ijms-23-01381.pdf
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Genomic and Non-Genomic Regulatory Mechanisms of the Cardiac Sodium Channel in Cardiac Arrhythmias.

International Journal Of Molecular Sciences
Daimi, Houria H; Lozano-Velasco, Estefanía E; Aranega, Amelia A; Franco, Diego D
Publication Date: 2022-01-26

Variant appearance in text: SCN5A: T353I
PubMed Link: 35163304
Variant Present in the following documents:
  • ijms-23-01381.pdf
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Gene variant effects across sodium channelopathies predict function and guide precision therapy.

Brain : A Journal Of Neurology
Brunklaus, Andreas A; Feng, Tony T; Brünger, Tobias T; Perez-Palma, Eduardo E; Heyne, Henrike H; Matthews, Emma E; Semsarian, Christopher C; Symonds, Joseph D JD; Zuberi, Sameer M SM; Lal, Dennis D; Schorge, Stephanie S
Publication Date: 2022-01-17

Variant appearance in text: SCN5A: T353I
PubMed Link: 35037686
Variant Present in the following documents:
  • awac006_Supplementary_Data.pdf
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L-Type Calcium Channel: Predicting Pathogenic/Likely Pathogenic Status for Variants of Uncertain Clinical Significance.

Membranes
Tarnovskaya, Svetlana I SI; Kostareva, Anna A AA; Zhorov, Boris S BS
Publication Date: 2021-08-07

Variant appearance in text: SCN5A: T353I
PubMed Link: 34436362
Variant Present in the following documents:
  • Main text
  • membranes-11-00599.pdf
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Enhancing rare variant interpretation in inherited arrhythmias through quantitative analysis of consortium disease cohorts and population controls.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Walsh, Roddy R; Lahrouchi, Najim N; Tadros, Rafik R; Kyndt, Florence F; Glinge, Charlotte C; Postema, Pieter G PG; Amin, Ahmad S AS; Nannenberg, Eline A EA; Ware, James S JS; Whiffin, Nicola N; Mazzarotto, Francesco F; Škorić-Milosavljević, Doris D; Krijger, Christian C; Arbelo, Elena E; Babuty, Dominique D; Barajas-Martinez, Hector H; Beckmann, Britt M BM; Bézieau, Stéphane S; Bos, J Martijn JM; Breckpot, Jeroen J; Campuzano, Oscar O; Castelletti, Silvia S; Celen, Candan C; Clauss, Sebastian S; Corveleyn, Anniek A; Crotti, Lia L; Dagradi, Federica F; de Asmundis, Carlo C; Denjoy, Isabelle I; Dittmann, Sven S; Ellinor, Patrick T PT; Ortuño, Cristina Gil CG; Giustetto, Carla C; Gourraud, Jean-Baptiste JB; Hazeki, Daisuke D; Horie, Minoru M; Ishikawa, Taisuke T; Itoh, Hideki H; Kaneko, Yoshiaki Y; Kanters, Jørgen K JK; Kimoto, Hiroki H; Kotta, Maria-Christina MC; Krapels, Ingrid P C IPC; Kurabayashi, Masahiko M; Lazarte, Julieta J; Leenhardt, Antoine A; Loeys, Bart L BL; Lundin, Catarina C; Makiyama, Takeru T; Mansourati, Jacques J; Martins, Raphaël P RP; Mazzanti, Andrea A; Mörner, Stellan S; Napolitano, Carlo C; Ohkubo, Kimie K; Papadakis, Michael M; Rudic, Boris B; Molina, Maria Sabater MS; Sacher, Frédéric F; Sahin, Hatice H; Sarquella-Brugada, Georgia G; Sebastiano, Regina R; Sharma, Sanjay S; Sheppard, Mary N MN; Shimamoto, Keiko K; Shoemaker, M Benjamin MB; Stallmeyer, Birgit B; Steinfurt, Johannes J; Tanaka, Yuji Y; Tester, David J DJ; Usuda, Keisuke K; van der Zwaag, Paul A PA; Van Dooren, Sonia S; Van Laer, Lut L; Winbo, Annika A; Winkel, Bo G BG; Yamagata, Kenichiro K; Zumhagen, Sven S; Volders, Paul G A PGA; Lubitz, Steven A SA; Antzelevitch, Charles C; Platonov, Pyotr G PG; Odening, Katja E KE; Roden, Dan M DM; Roberts, Jason D JD; Skinner, Jonathan R JR; Tfelt-Hansen, Jacob J; van den Berg, Maarten P MP; Olesen, Morten S MS; Lambiase, Pier D PD; Borggrefe, Martin M; Hayashi, Kenshi K; Rydberg, Annika A; Nakajima, Tadashi T; Yoshinaga, Masao M; Saenen, Johan B JB; Kääb, Stefan S; Brugada, Pedro P; Robyns, Tomas T; Giachino, Daniela F DF; Ackerman, Michael J MJ; Brugada, Ramon R; Brugada, Josep J; Gimeno, Juan R JR; Hasdemir, Can C; Guicheney, Pascale P; Priori, Silvia G SG; Schulze-Bahr, Eric E; Makita, Naomasa N; Schwartz, Peter J PJ; Shimizu, Wataru W; Aiba, Takeshi T; Schott, Jean-Jacques JJ; Redon, Richard R; Ohno, Seiko S; Probst, Vincent V; , ; Behr, Elijah R ER; Barc, Julien J; Bezzina, Connie R CR
Publication Date: 2021-01

Variant appearance in text: SCN5A: Thr353Ile
PubMed Link: 32893267
Variant Present in the following documents:
  • 41436_2020_946_MOESM2_ESM.xlsx, sheet 13
View BVdb publication page



Profiling and Pharmacokinetic Studies of Alkaloids in Rats After Oral Administration of Zanthoxylum nitidum Decoction by UPLC-Q-TOF-MS/MS and HPLC-MS/MS.

Molecules (Basel, Switzerland)
Huang, Aihua A; Chi, Yuguang Y; Liu, Jiawei J; Wang, Mincun M; Qin, Jialiang J; Ou, Lijuan L; Chen, Weiwen W; Zhao, Zhongxiang Z; Zhan, Ruoting R; Xu, Hui H
Publication Date: 2019-02-07

Variant appearance in text: SCN5A: T353I
PubMed Link: 30736390
Variant Present in the following documents:
  • molecules-24-00585.pdf
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Multiple mechanisms underlie increased cardiac late sodium current.

Heart Rhythm
Kroncke, Brett M BM; Yang, Tao T; Roden, Dan M DM
Publication Date: 2019-07

Variant appearance in text: LQT3: T353I
PubMed Link: 30677491
Variant Present in the following documents:
  • Main text
View BVdb publication page



Brugada syndrome: a fatal disease with complex genetic etiologies - still a long way to go.

Forensic Sciences Research
Wu, Yeda Y; Ai, Mei M; Bardeesi, Adham Sameer A ASA; Xu, Lunwu L; Zheng, Jingjing J; Zheng, Da D; Yin, Kun K; Wu, Qiuping Q; Zhang, Liyong L; Huang, Lei L; Cheng, Jianding J
Publication Date: 2017

Variant appearance in text: SCN5A: T353I
PubMed Link: 30483629
Variant Present in the following documents:
  • Main text
  • tfsr-2-1333203.pdf
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Key Role of the Membrane Trafficking of Nav1.5 Channel Protein in Antidepressant-Induced Brugada Syndrome.

Frontiers In Physiology
Chen, Xi X; Zhu, Chao C; Zhou, Hao H; Zhang, Yu Y; Cai, Zhongqi Z; Wu, Honglin H; Ren, Xiaomeng X; Gao, Lei L; Zhang, Jiancheng J; Li, Yang Y
Publication Date: 2018

Variant appearance in text: Nav1.5: T353I
PubMed Link: 30233406
Variant Present in the following documents:
  • Main text
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Predicting changes to INa from missense mutations in human SCN5A.

Scientific Reports
Clerx, Michael M; Heijman, Jordi J; Collins, Pieter P; Volders, Paul G A PGA
Publication Date: 2018-08-24

Variant appearance in text: SCN5A: T353I
PubMed Link: 30143662
Variant Present in the following documents:
  • 41598_2018_30577_MOESM1_ESM.pdf
View BVdb publication page



Therapeutic Strategies Targeting Inherited Cardiomyopathies.

Current Heart Failure Reports
Varian, Kenneth K; Tang, W H Wilson WHW
Publication Date: 2017-08

Variant appearance in text: SCN5A: T353I
PubMed Link: 28660543
Variant Present in the following documents:
  • Main text
View BVdb publication page



Structure-based assessment of disease-related mutations in human voltage-gated sodium channels.

Protein & Cell
Huang, Weiyun W; Liu, Minhao M; Yan, S Frank SF; Yan, Nieng N
Publication Date: 2017-06

Variant appearance in text: LQT3: T353I
PubMed Link: 28150151
Variant Present in the following documents:
  • Main text
  • 13238_2017_Article_372.pdf
View BVdb publication page



Effects of allocryptopine on outward potassium current and slow delayed rectifier potassium current in rabbit myocardium.

Journal Of Geriatric Cardiology : Jgc
Fu, Yi-Cheng YC; Zhang, Yu Y; Tian, Liu-Yang LY; Li, Nan N; Chen, Xi X; Cai, Zhong-Qi ZQ; Zhu, Chao C; Li, Yang Y
Publication Date: 2016-05

Variant appearance in text: SCN5A: T353I
PubMed Link: 27403141
Variant Present in the following documents:
  • jgc-13-04-316.pdf
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Physiological and Pathophysiological Insights of Nav1.4 and Nav1.5 Comparison.

Frontiers In Pharmacology
Loussouarn, Gildas G; Sternberg, Damien D; Nicole, Sophie S; Marionneau, Céline C; Le Bouffant, Francoise F; Toumaniantz, Gilles G; Barc, Julien J; Malak, Olfat A OA; Fressart, Véronique V; Péréon, Yann Y; Baró, Isabelle I; Charpentier, Flavien F
Publication Date: 2015

Variant appearance in text: Nav1.5: T353I
PubMed Link: 26834636
Variant Present in the following documents:
  • Main text
  • fphar-06-00314.pdf
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Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One
Holehouse, Alex S AS; Naegle, Kristen M KM
Publication Date: 2015

Variant appearance in text: SCN5A: T353I
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
View BVdb publication page



GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics
Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J
Publication Date: 2015-07-25

Variant appearance in text: SCN5A: T353I
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 5
View BVdb publication page



A novel missense mutation, I890T, in the pore region of cardiac sodium channel causes Brugada syndrome.

Plos One
Tarradas, Anna A; Selga, Elisabet E; Beltran-Alvarez, Pedro P; Pérez-Serra, Alexandra A; Riuró, Helena H; Picó, Ferran F; Iglesias, Anna A; Campuzano, Oscar O; Castro-Urda, Víctor V; Fernández-Lozano, Ignacio I; Pérez, Guillermo J GJ; Scornik, Fabiana S FS; Brugada, Ramon R
Publication Date: 2013

Variant appearance in text: SCN5A: T353I
PubMed Link: 23308164
Variant Present in the following documents:
View BVdb publication page



A novel strategy using cardiac sodium channel polymorphic fragments to rescue trafficking-deficient SCN5A mutations.

Circulation. Cardiovascular Genetics
Shinlapawittayatorn, Krekwit K; Dudash, Lynn A LA; Du, Xi X XX; Heller, Lisa L; Poelzing, Steven S; Ficker, Eckhard E; Deschênes, Isabelle I
Publication Date: 2011-10

Variant appearance in text: SCN5A: T353I
PubMed Link: 21840964
Variant Present in the following documents:
  • Main text
View BVdb publication page



Emerging concepts in the pharmacogenomics of arrhythmias: ion channel trafficking.

Expert Review Of Cardiovascular Therapy
Harkcom, William T WT; Abbott, Geoffrey W GW
Publication Date: 2010-08

Variant appearance in text: SCN5A: T353I
PubMed Link: 20670193
Variant Present in the following documents:
  • Main text
View BVdb publication page



A sodium channel pore mutation causing Brugada syndrome.

Heart Rhythm
Pfahnl, Arnold E AE; Viswanathan, Prakash C PC; Weiss, Raul R; Shang, Lijuan L LL; Sanyal, Shamarendra S; Shusterman, Vladimir V; Kornblit, Cari C; London, Barry B; Dudley, Samuel C SC
Publication Date: 2007-01

Variant appearance in text: SCN5A: T353I
PubMed Link: 17198989
Variant Present in the following documents:
  • Main text
View BVdb publication page