SCN5A c.677C>T ;(p.A226V)

Variant ID: 3-38655260-G-A

NM_000335.4(SCN5A):c.677C>T;(p.A226V)

This variant was identified in 30 publications

View GRCh38 version.




Publications:


Automated Patch-Clamp and Induced Pluripotent Stem Cell-Derived Cardiomyocytes: A Synergistic Approach in the Study of Brugada Syndrome.

International Journal Of Molecular Sciences
Melgari, Dario D; Calamaio, Serena S; Frosio, Anthony A; Prevostini, Rachele R; Anastasia, Luigi L; Pappone, Carlo C; Rivolta, Ilaria I
Publication Date: 2023-04-03

Variant appearance in text: SCN5A: 677C>T
PubMed Link: 37047659
Variant Present in the following documents:
  • Main text
  • ijms-24-06687.pdf
View BVdb publication page



Exome sequencing in fetuses with short long bones detected by ultrasonography: A retrospective cohort study.

Frontiers In Genetics
Huang, Yanlin Y; Liu, Chang C; Ding, Hongke H; Wang, Yunan Y; Yu, Lihua L; Guo, Fangfang F; Li, Fake F; Shi, Xiaomei X; Zhang, Yan Y; Yin, Aihua A
Publication Date: 2023

Variant appearance in text: SCN5A: 677C>T; Ala226Val
PubMed Link: 36923788
Variant Present in the following documents:
  • Table3.xlsx, sheet 1
View BVdb publication page



Genomic findings of hypertrophic and dilated cardiomyopathy characterized in a Thai clinical genetics service.

Plos One
Trachoo, Objoon O; Yingchoncharoen, Teerapat T; Ngernsritrakul, Tawai T; Iemwimangsa, Nareenart N; Panthan, Bhakbhoom B; Klumsathian, Sommon S; Srisukh, Sasima S; Mukdadilok, Anucha A; Phusanti, Sithakom S; Charoenyingwattana, Angkana A; Chareonsirisuthigul, Takol T; Chantratita, Wasun W; Tangcharoen, Tarinee T
Publication Date: 2022

Variant appearance in text: SCN5A: 677C>T; Ala226Val
PubMed Link: 36166435
Variant Present in the following documents:
  • Main text
  • pone.0267770.s002.pdf
  • pone.0267770.pdf
View BVdb publication page



Endophenotype effect sizes support variant pathogenicity in monogenic disease susceptibility genes.

Nature Communications
Halford, Jennifer L JL; Morrill, Valerie N VN; Choi, Seung Hoan SH; Jurgens, Sean J SJ; Melloni, Giorgio G; Marston, Nicholas A NA; Weng, Lu-Chen LC; Nauffal, Victor V; Hall, Amelia W AW; Gunn, Sophia S; Austin-Tse, Christina A CA; Pirruccello, James P JP; Khurshid, Shaan S; Rehm, Heidi L HL; Benjamin, Emelia J EJ; Boerwinkle, Eric E; Brody, Jennifer A JA; Correa, Adolfo A; Fornwalt, Brandon K BK; Gupta, Namrata N; Haggerty, Christopher M CM; Harris, Stephanie S; Heckbert, Susan R SR; Hong, Charles C CC; Kooperberg, Charles C; Lin, Henry J HJ; Loos, Ruth J F RJF; Mitchell, Braxton D BD; Morrison, Alanna C AC; Post, Wendy W; Psaty, Bruce M BM; Redline, Susan S; Rice, Kenneth M KM; Rich, Stephen S SS; Rotter, Jerome I JI; Schnatz, Peter F PF; Soliman, Elsayed Z EZ; Sotoodehnia, Nona N; Wong, Eugene K EK; , ; Sabatine, Marc S MS; Ruff, Christian T CT; Lunetta, Kathryn L KL; Ellinor, Patrick T PT; Lubitz, Steven A SA
Publication Date: 2022-08-30

Variant appearance in text: SCN5A: 677C>T; Ala226Val; rs199473561
PubMed Link: 36042188
Variant Present in the following documents:
  • 41467_2022_32009_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Genetic variants in Chinese patients with sporadic dilated cardiomyopathy: a cross-sectional study.

Annals Of Translational Medicine
Shen, Cheng C; Xu, Lei L; Sun, Xiaoning X; Sun, Aijun A; Ge, Junbo J
Publication Date: 2022-02

Variant appearance in text: SCN5A: A226V; rs199473561
PubMed Link: 35284542
Variant Present in the following documents:
  • Main text
  • atm-10-03-129-supplementary.pdf
  • atm-10-03-129.pdf
View BVdb publication page



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: A226V
PubMed Link: 35037686
Variant Present in the following documents:
  • awac006_Supplementary_Data.pdf
View BVdb publication page



Inherited and Acquired Rhythm Disturbances in Sick Sinus Syndrome, Brugada Syndrome, and Atrial Fibrillation: Lessons from Preclinical Modeling.

Cells
Iop, Laura L; Iliceto, Sabino S; Civieri, Giovanni G; Tona, Francesco F
Publication Date: 2021-11-15

Variant appearance in text: SCN5A: A226V
PubMed Link: 34831398
Variant Present in the following documents:
  • Main text
  • cells-10-03175.pdf
View BVdb publication page



Genetic Characteristics and Transcriptional Regulation of Sodium Channel Related Genes in Chinese Patients With Brugada Syndrome.

Frontiers In Cardiovascular Medicine
Zhang, Ziguan Z; Chen, Hongwei H; Chen, Wenbo W; Zhang, Zhenghao Z; Li, Runjing R; Xu, Jiajia J; Yang, Cui C; Chen, Minwei M; Liu, Shixiao S; Li, Yanling Y; Wang, TzungDau T; Tu, Xin X; Huang, Zhengrong Z
Publication Date: 2021

Variant appearance in text: SCN5A: A226V
PubMed Link: 34422936
Variant Present in the following documents:
  • Main text
  • fcvm-08-714844.pdf
View BVdb publication page



Cardiomyopathy and Death Following Chikungunya Infection: An Increasingly Common Outcome.

Tropical Medicine And Infectious Disease
Traverse, Elizabeth M EM; Hopkins, Hannah K HK; Vaidhyanathan, Vedana V; Barr, Kelli L KL
Publication Date: 2021-06-22

Variant appearance in text: SCN5A: A226V
PubMed Link: 34206332
Variant Present in the following documents:
  • Main text
  • tropicalmed-06-00108.pdf
View BVdb publication page



Patient-specific induced pluripotent stem cells as "disease-in-a-dish" models for inherited cardiomyopathies and channelopathies - 15 years of research.

World Journal Of Stem Cells
Micheu, Miruna Mihaela MM; Rosca, Ana-Maria AM
Publication Date: 2021-04-26

Variant appearance in text: SCN5A: A226V
PubMed Link: 33959219
Variant Present in the following documents:
  • Main text
View BVdb publication page



iPSC-Cardiomyocyte Models of Brugada Syndrome-Achievements, Challenges and Future Perspectives.

International Journal Of Molecular Sciences
Nijak, Aleksandra A; Saenen, Johan J; Labro, Alain J AJ; Schepers, Dorien D; Loeys, Bart L BL; Alaerts, Maaike M
Publication Date: 2021-03-10

Variant appearance in text: SCN5A: 677C>T
PubMed Link: 33802229
Variant Present in the following documents:
  • Main text
  • ijms-22-02825.pdf
View BVdb publication page



Territory-wide cohort study of Brugada syndrome in Hong Kong: predictors of long-term outcomes using random survival forests and non-negative matrix factorisation.

Open Heart
Lee, Sharen S; Zhou, Jiandong J; Li, Ka Hou Christien KHC; Leung, Keith Sai Kit KSK; Lakhani, Ishan I; Liu, Tong T; Wong, Ian Chi Kei ICK; Mok, Ngai Shing NS; Mak, Chloe C; Jeevaratnam, Kamalan K; Zhang, Qingpeng Q; Tse, Gary G
Publication Date: 2021-02

Variant appearance in text: SCN5A: 677C>T; A226V
PubMed Link: 33547222
Variant Present in the following documents:
  • openhrt-2020-001505supp001.pdf
View BVdb publication page



Disease Phenotypes and Mechanisms of iPSC-Derived Cardiomyocytes From Brugada Syndrome Patients With a Loss-of-Function SCN5A Mutation.

Frontiers In Cell And Developmental Biology
Li, Wener W; Stauske, Michael M; Luo, Xiaojing X; Wagner, Stefan S; Vollrath, Meike M; Mehnert, Carola S CS; Schubert, Mario M; Cyganek, Lukas L; Chen, Simin S; Hasheminasab, Sayed-Mohammad SM; Wulf, Gerald G; El-Armouche, Ali A; Maier, Lars S LS; Hasenfuss, Gerd G; Guan, Kaomei K
Publication Date: 2020

Variant appearance in text: SCN5A: A226V
PubMed Link: 33195263
Variant Present in the following documents:
  • Main text
  • fcell-08-592893.pdf
View BVdb publication page



Identification of Novel SCN5A Single Nucleotide Variants in Brugada Syndrome: A Territory-Wide Study From Hong Kong.

Frontiers In Physiology
Tse, Gary G; Lee, Sharen S; Liu, Tong T; Yuen, Ho Chuen HC; Wong, Ian Chi Kei ICK; Mak, Chloe C; Mok, Ngai Shing NS; Wong, Wing Tak WT
Publication Date: 2020

Variant appearance in text: SCN5A: 677C>T; A226V
PubMed Link: 33071830
Variant Present in the following documents:
  • Main text
  • fphys-11-574590.pdf
View BVdb publication page



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: Ala226Val
PubMed Link: 32893267
Variant Present in the following documents:
  • 41436_2020_946_MOESM2_ESM.xlsx, sheet 13
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: A226V
PubMed Link: 32431610
Variant Present in the following documents:
  • Main text
  • Table_1.xlsx, sheet 1
View BVdb publication page



The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.

Cell Research
Cao, Yanan Y; Li, Lin L; Xu, Min M; Feng, Zhimin Z; Sun, Xiaohui X; Lu, Jieli J; Xu, Yu Y; Du, Peina P; Wang, Tiange T; Hu, Ruying R; Ye, Zhen Z; Shi, Lixin L; Tang, Xulei X; Yan, Li L; Gao, Zhengnan Z; Chen, Gang G; Zhang, Yinfei Y; Chen, Lulu L; Ning, Guang G; Bi, Yufang Y; Wang, Weiqing W; ,
Publication Date: 2020-09

Variant appearance in text: SCN5A: 677C>T; Ala226Val; rs199473561
PubMed Link: 32355288
Variant Present in the following documents:
  • 41422_2020_322_MOESM14_ESM.xlsx, sheet 1
View BVdb publication page



Structure of the Cardiac Sodium Channel.

Cell
Jiang, Daohua D; Shi, Hui H; Tonggu, Lige L; Gamal El-Din, Tamer M TM; Lenaeus, Michael J MJ; Zhao, Yan Y; Yoshioka, Craig C; Zheng, Ning N; Catterall, William A WA
Publication Date: 2020-01-09

Variant appearance in text: LQT3: A226V
PubMed Link: 31866066
Variant Present in the following documents:
  • Main text
View BVdb publication page



Experimental Models of Brugada syndrome.

International Journal Of Molecular Sciences
Sendfeld, Franziska F; Selga, Elisabet E; Scornik, Fabiana S FS; Pérez, Guillermo J GJ; Mills, Nicholas L NL; Brugada, Ramon R
Publication Date: 2019-04-29

Variant appearance in text: SCN5A: A226V
PubMed Link: 31032819
Variant Present in the following documents:
  • Main text
View BVdb publication page



Impact of Ancestral Differences and Reassessment of the Classification of Previously Reported Pathogenic Variants in Patients With Brugada Syndrome in the Genomic Era: A SADS-TW BrS Registry.

Frontiers In Genetics
Chen, Ching-Yu Julius CJ; Lu, Tzu-Pin TP; Lin, Lian-Yu LY; Liu, Yen-Bin YB; Ho, Li-Ting LT; Huang, Hui-Chun HC; Lai, Ling-Ping LP; Hwang, Juey-Jen JJ; Yeh, Shih-Fan Sherri SS; Wu, Cho-Kai CK; Juang, Jyh-Ming Jimmy JJ; Antzelevitch, Charles C
Publication Date: 2018

Variant appearance in text: SCN5A: A226V; rs199473561
PubMed Link: 30662450
Variant Present in the following documents:
  • Main text
  • fgene-09-00680.pdf
View BVdb publication page



SCN5A Variants: Association With Cardiac Disorders.

Frontiers In Physiology
Li, Wenjia W; Yin, Lei L; Shen, Cheng C; Hu, Kai K; Ge, Junbo J; Sun, Aijun A
Publication Date: 2018

Variant appearance in text: SCN5A: 677C>T
PubMed Link: 30364184
Variant Present in the following documents:
  • Main text
View BVdb publication page



Identification of an INa-dependent and Ito-mediated proarrhythmic mechanism in cardiomyocytes derived from pluripotent stem cells of a Brugada syndrome patient.

Scientific Reports
Ma, Dongrui D; Liu, Zhenfeng Z; Loh, Li Jun LJ; Zhao, Yongxing Y; Li, Guang G; Liew, Reginald R; Islam, Omedul O; Wu, Jianjun J; Chung, Ying Ying YY; Teo, Wee Siong WS; Ching, Chi Keong CK; Tan, Boon Yew BY; Chong, Daniel D; Ho, Kah Leng KL; Lim, Paul P; Yong, Rita Yu Yin RYY; Panama, Brian K BK; Kaplan, Aaron D AD; Bett, Glenna C L GCL; Ware, James J; Bezzina, Connie R CR; Verkerk, Arie O AO; Cook, Stuart A SA; Rasmusson, Randall L RL; Wei, Heming H
Publication Date: 2018-07-26

Variant appearance in text: SCN5A: 677C>T
PubMed Link: 30050137
Variant Present in the following documents:
  • Main text
  • 41598_2018_Article_29574.pdf
View BVdb publication page



Dysfunctional Nav1.5 channels due to SCN5A mutations.

Experimental Biology And Medicine (Maywood, N.J.)
Han, Dan D; Tan, Hui H; Sun, Chaofeng C; Li, Guoliang G
Publication Date: 2018-06

Variant appearance in text: SCN5A: A226V
PubMed Link: 29806494
Variant Present in the following documents:
  • Main text
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: A226V
PubMed Link: 28739862
Variant Present in the following documents:
  • Main text
  • JAH3-6-e005135.pdf
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: A226V
PubMed Link: 28150151
Variant Present in the following documents:
  • Main text
  • 13238_2017_Article_372.pdf
View BVdb publication page



In silico study on anti-Chikungunya virus activity of hesperetin.

Peerj
Oo, Adrian A; Hassandarvish, Pouya P; Chin, Sek Peng SP; Lee, Vannajan Sanghiran VS; Abu Bakar, Sazaly S; Zandi, Keivan K
Publication Date: 2016

Variant appearance in text: HB2: A226V
PubMed Link: 27812412
Variant Present in the following documents:
  • peerj-04-2602.pdf
View BVdb publication page



A Landscape of Pharmacogenomic Interactions in Cancer.

Cell
Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ
Publication Date: 2016-07-28

Variant appearance in text: SCN5A: 677C>T; A226V
PubMed Link: 27397505
Variant Present in the following documents:
  • mmc3.xlsx, sheet 3
View BVdb publication page



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: LQT3: A226V
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: A226V
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 5
View BVdb publication page



Paralogue annotation identifies novel pathogenic variants in patients with Brugada syndrome and catecholaminergic polymorphic ventricular tachycardia.

Journal Of Medical Genetics
Walsh, Roddy R; Peters, Nicholas S NS; Cook, Stuart A SA; Ware, James S JS
Publication Date: 2014-01

Variant appearance in text: SCN5A: 677C>T; A226V
PubMed Link: 24136861
Variant Present in the following documents:
  • jmedgenet-2013-101917-s1.pdf
View BVdb publication page