SCN5A c.2204C>T ;(p.A735V)

Variant ID: 3-38639278-G-A

NM_000335.4(SCN5A):c.2204C>T;(p.A735V)

This variant was identified in 33 publications

View GRCh38 version.




Publications:


HiPSC-derived cardiomyocyte to model Brugada syndrome: both asymptomatic and symptomatic mutation carriers reveal increased arrhythmogenicity.

Bmc Cardiovascular Disorders
Penttinen, Kirsi K; Prajapati, Chandra C; Shah, Disheet D; Rajan, Dhanesh Kattipparambil DK; Cherian, Reeja Maria RM; Swan, Heikki H; Aalto-Setälä, Katriina K
Publication Date: 2023-04-25

Variant appearance in text: SCN5A: A735V
PubMed Link: 37098502
Variant Present in the following documents:
  • 12872_2023_Article_3234.pdf
View BVdb publication page



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: 2204C>T
PubMed Link: 37047659
Variant Present in the following documents:
  • Main text
  • ijms-24-06687.pdf
View BVdb publication page



Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics
Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P
Publication Date: 2023-02-23

Variant appearance in text: SCN5A: 2204C>T; Ala735Val
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



Determining the Likelihood of Disease Pathogenicity Among Incidentally Identified Genetic Variants in Rare Dilated Cardiomyopathy-Associated Genes.

Journal Of The American Heart Association
Yang, Qixin Q; Berkman, Amy M AM; Ezekian, Jordan E JE; Rosamilia, Michael M; Rosenfeld, Jill A JA; Liu, Pengfei P; Landstrom, Andrew P AP
Publication Date: 2022-10-04

Variant appearance in text: SCN5A: 2204C>T; A735V
PubMed Link: 36129056
Variant Present in the following documents:
  • JAH3-11-e025257-s001.pdf
  • JAH3-11-e025257.pdf
View BVdb publication page



Deciphering Common Long QT Syndrome Using CRISPR/Cas9 in Human-Induced Pluripotent Stem Cell-Derived Cardiomyocytes.

Frontiers In Cardiovascular Medicine
Song, Yongfei Y; Zheng, Zequn Z; Lian, Jiangfang J
Publication Date: 2022

Variant appearance in text: SCN5A: A735V
PubMed Link: 35647048
Variant Present in the following documents:
  • fcvm-09-889519.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: A735V
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: A735V
PubMed Link: 34831398
Variant Present in the following documents:
  • Main text
View BVdb publication page



Application of the Pluripotent Stem Cells and Genomics in Cardiovascular Research-What We Have Learnt and Not Learnt until Now.

Cells
Simeon, Michael M; Dangwal, Seema S; Sachinidis, Agapios A; Doss, Michael Xavier MX
Publication Date: 2021-11-10

Variant appearance in text: Nav1.5: A735V
PubMed Link: 34831333
Variant Present in the following documents:
  • Main text
  • cells-10-03112.pdf
View BVdb publication page



Low neoantigen expression and poor T-cell priming underlie early immune escape in colorectal cancer.

Nature Cancer
Westcott, Peter M K PMK; Sacks, Nathan J NJ; Schenkel, Jason M JM; Ely, Zackery A ZA; Smith, Olivia O; Hauck, Haley H; Jaeger, Alex M AM; Zhang, Daniel D; Backlund, Coralie M CM; Beytagh, Mary C MC; Patten, J J JJ; Elbashir, Ryan R; Eng, George G; Irvine, Darrell J DJ; Yilmaz, Omer H OH; Jacks, Tyler T
Publication Date: 2021-10

Variant appearance in text: SCN5A: 2204C>T; Ala735Val
PubMed Link: 34738089
Variant Present in the following documents:
  • NIHMS1725490-supplement-Source_Data_Figure_1.xlsx, sheet 1
View BVdb publication page



Cardiac radiotherapy induces electrical conduction reprogramming in the absence of transmural fibrosis.

Nature Communications
Zhang, David M DM; Navara, Rachita R; Yin, Tiankai T; Szymanski, Jeffrey J; Goldsztejn, Uri U; Kenkel, Camryn C; Lang, Adam A; Mpoy, Cedric C; Lipovsky, Catherine E CE; Qiao, Yun Y; Hicks, Stephanie S; Li, Gang G; Moore, Kaitlin M S KMS; Bergom, Carmen C; Rogers, Buck E BE; Robinson, Clifford G CG; Cuculich, Phillip S PS; Schwarz, Julie K JK; Rentschler, Stacey L SL
Publication Date: 2021-09-24

Variant appearance in text: SCN5A: A735V
PubMed Link: 34561429
Variant Present in the following documents:
  • 41467_2021_25730_MOESM3_ESM.pdf
View BVdb publication page



Human iPSCs and Genome Editing Technologies for Precision Cardiovascular Tissue Engineering.

Frontiers In Cell And Developmental Biology
Gähwiler, Eric K N EKN; Motta, Sarah E SE; Martin, Marcy M; Nugraha, Bramasta B; Hoerstrup, Simon P SP; Emmert, Maximilian Y MY
Publication Date: 2021

Variant appearance in text: SCN5A: A735V
PubMed Link: 34262897
Variant Present in the following documents:
  • fcell-09-639699.pdf
View BVdb publication page



Next generation of heart regenerative therapies: progress and promise of cardiac tissue engineering.

Npj Regenerative Medicine
Tenreiro, Miguel F MF; Louro, Ana F AF; Alves, Paula M PM; Serra, Margarida M
Publication Date: 2021-06-01

Variant appearance in text: SCN5A: A735V
PubMed Link: 34075050
Variant Present in the following documents:
  • 41536_2021_Article_140.pdf
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: 2204C>T
PubMed Link: 33802229
Variant Present in the following documents:
  • Main text
  • ijms-22-02825.pdf
View BVdb publication page



Precision Medicine and cardiac channelopathies: when dreams meet reality.

European Heart Journal
Gnecchi, Massimiliano M; Sala, Luca L; Schwartz, Peter J PJ
Publication Date: 2021-05-01

Variant appearance in text: SCN5A: A735V
PubMed Link: 33686390
Variant Present in the following documents:
  • ehab007.pdf
View BVdb publication page



hiPSC-Derived Cardiac Tissue for Disease Modeling and Drug Discovery.

International Journal Of Molecular Sciences
Li, Junjun J; Hua, Ying Y; Miyagawa, Shigeru S; Zhang, Jingbo J; Li, Lingjun L; Liu, Li L; Sawa, Yoshiki Y
Publication Date: 2020-11-24

Variant appearance in text: SCN5A: A735V
PubMed Link: 33255277
Variant Present in the following documents:
  • ijms-21-08893.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: 2204C>T; Ala735Val
PubMed Link: 32893267
Variant Present in the following documents:
  • 41436_2020_946_MOESM2_ESM.xlsx, sheet 3
View BVdb publication page



Landscape of somatic single nucleotide variants and indels in colorectal cancer and impact on survival.

Nature Communications
Zaidi, Syed H SH; Harrison, Tabitha A TA; Phipps, Amanda I AI; Steinfelder, Robert R; Trinh, Quang M QM; Qu, Conghui C; Banbury, Barbara L BL; Georgeson, Peter P; Grasso, Catherine S CS; Giannakis, Marios M; Adams, Jeremy B JB; Alwers, Elizabeth E; Amitay, Efrat L EL; Barfield, Richard T RT; Berndt, Sonja I SI; Borozan, Ivan I; Brenner, Hermann H; Brezina, Stefanie S; Buchanan, Daniel D DD; Cao, Yin Y; Chan, Andrew T AT; Chang-Claude, Jenny J; Connolly, Charles M CM; Drew, David A DA; Farris, Alton Brad AB; Figueiredo, Jane C JC; French, Amy J AJ; Fuchs, Charles S CS; Garraway, Levi A LA; Gruber, Steve S; Guinter, Mark A MA; Hamilton, Stanley R SR; Harlid, Sophia S; Heisler, Lawrence E LE; Hidaka, Akihisa A; Hopper, John L JL; Huang, Wen-Yi WY; Huyghe, Jeroen R JR; Jenkins, Mark A MA; Krzyzanowski, Paul M PM; Lemire, Mathieu M; Lin, Yi Y; Luo, Xuemei X; Mardis, Elaine R ER; McPherson, John D JD; Miller, Jessica K JK; Moreno, Victor V; Mu, Xinmeng Jasmine XJ; Nishihara, Reiko R; Papadopoulos, Nickolas N; Pasternack, Danielle D; Quist, Michael J MJ; Rafikova, Adilya A; Reid, Emma E G EEG; Shinbrot, Eve E; Shirts, Brian H BH; Stein, Lincoln D LD; Teney, Cherie D CD; Timms, Lee L; Um, Caroline Y CY; Van Guelpen, Bethany B; Van Tassel, Megan M; Wang, Xiaolong X; Wheeler, David A DA; Yung, Christina K CK; Hsu, Li L; Ogino, Shuji S; Gsur, Andrea A; Newcomb, Polly A PA; Gallinger, Steven S; Hoffmeister, Michael M; Campbell, Peter T PT; Thibodeau, Stephen N SN; Sun, Wei W; Hudson, Thomas J TJ; Peters, Ulrike U
Publication Date: 2020-07-20

Variant appearance in text: SCN5A: A735V
PubMed Link: 32686686
Variant Present in the following documents:
  • 41467_2020_17386_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



mTOR Signaling and SREBP Activity Increase FADS2 Expression and Can Activate Sapienate Biosynthesis.

Cell Reports
Triki, Mouna M; Rinaldi, Gianmarco G; Planque, Melanie M; Broekaert, Dorien D; Winkelkotte, Alina M AM; Maier, Carina R CR; Janaki Raman, Sudha S; Vandekeere, Anke A; Van Elsen, Joke J; Orth, Martin F MF; Grünewald, Thomas G P TGP; Schulze, Almut A; Fendt, Sarah-Maria SM
Publication Date: 2020-06-23

Variant appearance in text: SCN5A: A735V
PubMed Link: 32579932
Variant Present in the following documents:
  • mmc5.xlsx, sheet 3
View BVdb publication page



Modeling Cardiac Disease Mechanisms Using Induced Pluripotent Stem Cell-Derived Cardiomyocytes: Progress, Promises and Challenges.

International Journal Of Molecular Sciences
Parrotta, Elvira Immacolata EI; Lucchino, Valeria V; Scaramuzzino, Luana L; Scalise, Stefania S; Cuda, Giovanni G
Publication Date: 2020-06-19

Variant appearance in text: SCN5A: A735V
PubMed Link: 32575374
Variant Present in the following documents:
  • ijms-21-04354.pdf
View BVdb publication page



hiPSCs Derived Cardiac Cells for Drug and Toxicity Screening and Disease Modeling: What Micro- Electrode-Array Analyses Can Tell Us.

Cells
Kussauer, Sophie S; David, Robert R; Lemcke, Heiko H
Publication Date: 2019-10-28

Variant appearance in text: LQT3: A735V
PubMed Link: 31661896
Variant Present in the following documents:
  • Main text
  • cells-08-01331.pdf
View BVdb publication page



Comparing human iPSC-cardiomyocytes versus HEK293T cells unveils disease-causing effects of Brugada mutation A735V of NaV1.5 sodium channels.

Scientific Reports
de la Roche, Jeanne J; Angsutararux, Paweorn P; Kempf, Henning H; Janan, Montira M; Bolesani, Emiliano E; Thiemann, Stefan S; Wojciechowski, Daniel D; Coffee, Michelle M; Franke, Annika A; Schwanke, Kristin K; Leffler, Andreas A; Luanpitpong, Sudjit S; Issaragrisil, Surapol S; Fischer, Martin M; Zweigerdt, Robert R
Publication Date: 2019-08-01

Variant appearance in text: SCN5A: A735V
PubMed Link: 31371804
Variant Present in the following documents:
  • Main text
  • 41598_2019_47632_MOESM1_ESM.pdf
  • 41598_2019_Article_47632.pdf
View BVdb publication page



Sudden Unexplained Nocturnal Death Syndrome: The Hundred Years' Enigma.

Journal Of The American Heart Association
Zheng, Jingjing J; Zheng, Da D; Su, Terry T; Cheng, Jianding J
Publication Date: 2018-03-03

Variant appearance in text: SCN5A: A735V
PubMed Link: 29502107
Variant Present in the following documents:
  • Main text
View BVdb publication page



Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S
Publication Date: 2017-10

Variant appearance in text: SCN5A: 2204C>T; Ala735Val
PubMed Link: 28569743
Variant Present in the following documents:
  • gim201760x7.xlsx, sheet 2
View BVdb publication page



IRX3 variant as a modifier of Brugada syndrome with frequent ventricular fibrillation.

Heartrhythm Case Reports
Kimura, Yoshitaka Y; Aiba, Takeshi T; Sasano, Tetsuo T; Furukawa, Tetsushi T; Kusano, Kengo K; Shimizu, Wataru W
Publication Date: 2016-11

Variant appearance in text: SCN5A: A735V
PubMed Link: 28491738
Variant Present in the following documents:
  • Main text
  • main.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: A735V
PubMed Link: 28150151
Variant Present in the following documents:
  • Main text
  • 13238_2017_Article_372.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: 2204C>T; A735V
PubMed Link: 27397505
Variant Present in the following documents:
  • mmc3.xlsx, sheet 2
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: SCN5A: A735V
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
View BVdb publication page



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: A735V
PubMed Link: 26283144
Variant Present in the following documents:
  • Main text
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: A735V
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 5
View BVdb publication page



Enhanced Classification of Brugada Syndrome-Associated and Long-QT Syndrome-Associated Genetic Variants in the SCN5A-Encoded Na(v)1.5 Cardiac Sodium Channel.

Circulation. Cardiovascular Genetics
Kapplinger, Jamie D JD; Giudicessi, John R JR; Ye, Dan D; Tester, David J DJ; Callis, Thomas E TE; Valdivia, Carmen R CR; Makielski, Jonathan C JC; Wilde, Arthur A AA; Ackerman, Michael J MJ
Publication Date: 2015-08

Variant appearance in text: SCN5A: A735V
PubMed Link: 25904541
Variant Present in the following documents:
  • Main text
View BVdb publication page



Multiple lithium-dependent Brugada syndrome unmasking events in a bipolar patient.

Clinical Case Reports
Crawford, Rebecca R RR; Higdon, Ashlee N AN; Casey, David B DB; Good, David E DE; Mungrue, Imran N IN
Publication Date: 2015-01

Variant appearance in text: rs137854611
PubMed Link: 25678966
Variant Present in the following documents:
  • Main text
  • ccr30003-0014.pdf
View BVdb publication page



Characterization of N-terminally mutated cardiac Na(+) channels associated with long QT syndrome 3 and Brugada syndrome.

Frontiers In Physiology
Gütter, Christian C; Benndorf, Klaus K; Zimmer, Thomas T
Publication Date: 2013

Variant appearance in text: SCN5A: A735V
PubMed Link: 23805106
Variant Present in the following documents:
  • Main text
  • fphys-04-00153.pdf
View BVdb publication page