KCNQ1 c.691C>T ;(p.R231C)

Variant ID: 11-2593250-C-T

NM_000218.2(KCNQ1):c.691C>T;(p.R231C)

This variant was identified in 42 publications

View GRCh38 version.




Publications:


Human Sinoatrial Node Pacemaker Activity: Role of the Slow Component of the Delayed Rectifier K+ Current, IKs.

International Journal Of Molecular Sciences
Verkerk, Arie O AO; Wilders, Ronald R
Publication Date: 2023-04-14

Variant appearance in text: KCNQ1: R231C
PubMed Link: 37108427
Variant Present in the following documents:
  • Main text
  • ijms-24-07264.pdf
View BVdb publication page



Assessing variants of uncertain significance implicated in hearing loss using a comprehensive deafness proteome.

Human Genetics
Tollefson, Mallory R MR; Gogal, Rose A RA; Weaver, A Monique AM; Schaefer, Amanda M AM; Marini, Robert J RJ; Azaiez, Hela H; Kolbe, Diana L DL; Wang, Donghong D; Weaver, Amy E AE; Casavant, Thomas L TL; Braun, Terry A TA; Smith, Richard J H RJH; Schnieders, Michael J MJ
Publication Date: 2023-04-22

Variant appearance in text: KCNQ1: 691C>T; Arg231Cys
PubMed Link: 37086329
Variant Present in the following documents:
  • 439_2023_2559_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Sex Differences and Utility of Treadmill Testing in Long-QT Syndrome.

Journal Of The American Heart Association
Yee, Lauren A LA; Han, Hui-Chen HC; Davies, Brianna B; Pearman, Charles M CM; Laksman, Zachary W M ZWM; Roberts, Jason D JD; Steinberg, Christian C; Tadros, Rafik R; Cadrin-Tourigny, Julia J; Simpson, Christopher S CS; Gardner, Martin M; MacIntyre, Ciorsti C; Arbour, Laura L; Leather, Richard R; Fournier, Anne A; Green, Martin S MS; Kimber, Shane S; Angaran, Paul P; Sanatani, Shubhayan S; Joza, Jacqueline J; Khan, Habib H; Healey, Jeffrey S JS; Atallah, Joseph J; Seifer, Colette C; Krahn, Andrew D AD
Publication Date: 2022-09-20

Variant appearance in text: KCNQ1: Arg231Cys
PubMed Link: 36102233
Variant Present in the following documents:
  • JAH3-11-e025108.pdf
  • JAH3-11-e025108-s001.pdf
View BVdb publication page



Genotype-Specific ECG-Based Risk Stratification Approaches in Patients With Long-QT Syndrome.

Frontiers In Cardiovascular Medicine
Rieder, Marina M; Kreifels, Paul P; Stuplich, Judith J; Ziupa, David D; Servatius, Helge H; Nicolai, Luisa L; Castiglione, Alessandro A; Zweier, Christiane C; Asatryan, Babken B; Odening, Katja E KE
Publication Date: 2022

Variant appearance in text: KCNQ1: Arg231Cys
PubMed Link: 35911527
Variant Present in the following documents:
  • Main text
  • fcvm-09-916036.pdf
View BVdb publication page



Mutation-Specific Differences in Kv7.1 (KCNQ1) and Kv11.1 (KCNH2) Channel Dysfunction and Long QT Syndrome Phenotypes.

International Journal Of Molecular Sciences
Kekenes-Huskey, Peter M PM; Burgess, Don E DE; Sun, Bin B; Bartos, Daniel C DC; Rozmus, Ezekiel R ER; Anderson, Corey L CL; January, Craig T CT; Eckhardt, Lee L LL; Delisle, Brian P BP
Publication Date: 2022-07-02

Variant appearance in text: KCNQ1: R231C
PubMed Link: 35806392
Variant Present in the following documents:
  • ijms-23-07389.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: KCNQ1: R231C
PubMed Link: 34831398
Variant Present in the following documents:
  • Main text
  • cells-10-03175.pdf
View BVdb publication page



Arrhythmogenic Effects of Genetic Mutations Affecting Potassium Channels in Human Atrial Fibrillation: A Simulation Study.

Frontiers In Physiology
Belletti, Rebecca R; Romero, Lucia L; Martinez-Mateu, Laura L; Cherry, Elizabeth M EM; Fenton, Flavio H FH; Saiz, Javier J
Publication Date: 2021

Variant appearance in text: KCNQ1: R231C
PubMed Link: 34135774
Variant Present in the following documents:
  • fphys-12-681943.pdf
View BVdb publication page



The prevalence, genetic complexity and population-specific founder effects of human autosomal recessive disorders.

Npj Genomic Medicine
Xiao, Qingyang Q; Lauschke, Volker M VM
Publication Date: 2021-06-02

Variant appearance in text: KCNQ1: 691C>T; Arg231Cys; rs199473457
PubMed Link: 34078906
Variant Present in the following documents:
  • 41525_2021_203_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Disease-linked supertrafficking of a potassium channel.

The Journal Of Biological Chemistry
Huang, Hui H; Chamness, Laura M LM; Vanoye, Carlos G CG; Kuenze, Georg G; Meiler, Jens J; George, Alfred L AL; Schlebach, Jonathan Patrick JP; Sanders, Charles R CR
Publication Date: 2021

Variant appearance in text: KCNQ1: R231C
PubMed Link: 33600800
Variant Present in the following documents:
  • Main text
  • mmc1.pdf
  • main.pdf
View BVdb publication page



Insights into Cardiac IKs (KCNQ1/KCNE1) Channels Regulation.

International Journal Of Molecular Sciences
Wu, Xiaoan X; Larsson, H Peter HP
Publication Date: 2020-12-11

Variant appearance in text: KCNQ1: R231C
PubMed Link: 33322401
Variant Present in the following documents:
  • Main text
  • ijms-21-09440.pdf
View BVdb publication page



Atrial fibrillation-a complex polygenetic disease.

European Journal Of Human Genetics : Ejhg
Andersen, Julie H JH; Andreasen, Laura L; Olesen, Morten S MS
Publication Date: 2021-07

Variant appearance in text: KCNQ1: Arg231Cys
PubMed Link: 33279945
Variant Present in the following documents:
  • 41431_2020_784_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Collision-Induced Unfolding Differentiates Functional Variants of the KCNQ1 Voltage Sensor Domain.

Journal Of The American Society For Mass Spectrometry
Fantin, Sarah M SM; Huang, Hui H; Sanders, Charles R CR; Ruotolo, Brandon T BT
Publication Date: 2020-11-04

Variant appearance in text: KCNQ1: R231C
PubMed Link: 32960579
Variant Present in the following documents:
  • Main text
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: KCNQ1: 691C>T
PubMed Link: 32893267
Variant Present in the following documents:
  • 41436_2020_946_MOESM2_ESM.xlsx, sheet 12
  • 41436_2020_946_MOESM2_ESM.xlsx, sheet 4
  • 41436_2020_946_MOESM2_ESM.xlsx, sheet 10
View BVdb publication page



A computational model of induced pluripotent stem-cell derived cardiomyocytes for high throughput risk stratification of KCNQ1 genetic variants.

Plos Computational Biology
Kernik, Divya C DC; Yang, Pei-Chi PC; Kurokawa, Junko J; Wu, Joseph C JC; Clancy, Colleen E CE
Publication Date: 2020-08

Variant appearance in text: LQT1: R231C
PubMed Link: 32797034
Variant Present in the following documents:
  • Main text
  • pcbi.1008109.pdf
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: KCNQ1: R231C
PubMed Link: 32431610
Variant Present in the following documents:
  • Main text
  • fphar-11-00550.pdf
  • Table_1.xlsx, sheet 1
View BVdb publication page



Reclassification of genetic variants in children with long QT syndrome.

Molecular Genetics & Genomic Medicine
Westphal, Dominik S DS; Burkard, Tobias T; Moscu-Gregor, Alexander A; Gebauer, Roman R; Hessling, Gabriele G; Wolf, Cordula M CM
Publication Date: 2020-09

Variant appearance in text: KCNQ1: 691C>T; Arg231Cys
PubMed Link: 32383558
Variant Present in the following documents:
  • MGG3-8-e1300-s001.xlsx, sheet 1
View BVdb publication page



REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification.

Scientific Reports
Tian, Yuan Y; Pesaran, Tina T; Chamberlin, Adam A; Fenwick, R Bryn RB; Li, Shuwei S; Gau, Chia-Ling CL; Chao, Elizabeth C EC; Lu, Hsiao-Mei HM; Black, Mary Helen MH; Qian, Dajun D
Publication Date: 2019-09-04

Variant appearance in text: KCNQ1: 691C>T; R231C
PubMed Link: 31484976
Variant Present in the following documents:
  • 41598_2019_49224_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Investigating the Complex Arrhythmic Phenotype Caused by the Gain-of-Function Mutation KCNQ1-G229D.

Frontiers In Physiology
Zhou, Xin X; Bueno-Orovio, Alfonso A; Schilling, Richard J RJ; Kirkby, Claire C; Denning, Chris C; Rajamohan, Divya D; Burrage, Kevin K; Tinker, Andrew A; Rodriguez, Blanca B; Harmer, Stephen C SC
Publication Date: 2019

Variant appearance in text: KCNQ1: R231C
PubMed Link: 30967788
Variant Present in the following documents:
  • Main text
  • fphys-10-00259.pdf
View BVdb publication page



An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.

Database : The Journal Of Biological Databases And Curation
Famiglietti, M L ML; Estreicher, A A; Breuza, L L; Poux, S S; Redaschi, N N; Xenarios, I I; Bridge, A A; ,
Publication Date: 2019-01-01

Variant appearance in text: KCNQ1: 691C>T
PubMed Link: 30937429
Variant Present in the following documents:
  • famiglietti_supplementarytables1_rev_baz040.xlsx, sheet 1
View BVdb publication page



Epilepsy-associated mutations in the voltage sensor of KCNQ3 affect voltage dependence of channel opening.

The Journal Of General Physiology
Barro-Soria, Rene R
Publication Date: 2019-02-04

Variant appearance in text: KCNQ1: R231C
PubMed Link: 30578330
Variant Present in the following documents:
  • Main text
  • JGP_201812221.pdf
View BVdb publication page



High-Throughput Functional Evaluation of KCNQ1 Decrypts Variants of Unknown Significance.

Circulation. Genomic And Precision Medicine
Vanoye, Carlos G CG; Desai, Reshma R RR; Fabre, Katarina L KL; Gallagher, Shannon L SL; Potet, Franck F; DeKeyser, Jean-Marc JM; Macaya, Daniela D; Meiler, Jens J; Sanders, Charles R CR; George, Alfred L AL
Publication Date: 2018-11

Variant appearance in text: KCNQ1: R231C
PubMed Link: 30571187
Variant Present in the following documents:
  • Main text
View BVdb publication page



Pore- and voltage sensor-targeted KCNQ openers have distinct state-dependent actions.

The Journal Of General Physiology
Wang, Caroline K CK; Lamothe, Shawn M SM; Wang, Alice W AW; Yang, Runying Y RY; Kurata, Harley T HT
Publication Date: 2018-12-03

Variant appearance in text: KCNQ1: R231C
PubMed Link: 30373787
Variant Present in the following documents:
  • Main text
View BVdb publication page



Long QT Syndrome and Sinus Bradycardia-A Mini Review.

Frontiers In Cardiovascular Medicine
Wilders, Ronald R; Verkerk, Arie O AO
Publication Date: 2018

Variant appearance in text: KCNQ1: R231C
PubMed Link: 30123799
Variant Present in the following documents:
  • Main text
  • fcvm-05-00106.pdf
View BVdb publication page



The Role of KCNQ1 Mutations and Maternal Beta Blocker Use During Pregnancy in the Growth of Children With Long QT Syndrome.

Frontiers In Endocrinology
Huttunen, Heta H; Hero, Matti M; Lääperi, Mitja M; Känsäkoski, Johanna J; Swan, Heikki H; Hirsch, Joel A JA; Miettinen, Päivi J PJ; Raivio, Taneli T
Publication Date: 2018

Variant appearance in text: LQT1: Arg231Cys
PubMed Link: 29740400
Variant Present in the following documents:
  • Main text
  • fendo-09-00194.pdf
View BVdb publication page



Effects of protein-protein interactions and ligand binding on the ion permeation in KCNQ1 potassium channel.

Plos One
Jalily Hasani, Horia H; Ganesan, Aravindhan A; Ahmed, Marawan M; Barakat, Khaled H KH
Publication Date: 2018

Variant appearance in text: KCNQ1: R231C
PubMed Link: 29444113
Variant Present in the following documents:
  • pone.0191905.s001.pdf
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: KCNQ1: 691C>T; Arg231Cys
PubMed Link: 28569743
Variant Present in the following documents:
  • gim201760x7.xlsx, sheet 2
View BVdb publication page



Short QT and atrial fibrillation: A KCNQ1 mutation-specific disease. Late follow-up in three unrelated children.

Heartrhythm Case Reports
Sarquella-Brugada, Georgia G; Campuzano, Oscar O; Iglesias, Anna A; Grueso, Josefina J; Bradley, David J DJ; Kerst, Gunter G; Shmorhun, Daniel D; Brugada, Josep J; Brugada, Ramon R
Publication Date: 2015-07

Variant appearance in text: KCNQ1: R231c
PubMed Link: 28491547
Variant Present in the following documents:
  • main.pdf
View BVdb publication page



Computational analysis of the human sinus node action potential: model development and effects of mutations.

The Journal Of Physiology
Fabbri, Alan A; Fantini, Matteo M; Wilders, Ronald R; Severi, Stefano S
Publication Date: 2017-04-01

Variant appearance in text: KCNQ1: R231C
PubMed Link: 28185290
Variant Present in the following documents:
  • Main text
View BVdb publication page



Molecular Pathophysiology of Congenital Long QT Syndrome.

Physiological Reviews
Bohnen, M S MS; Peng, G G; Robey, S H SH; Terrenoire, C C; Iyer, V V; Sampson, K J KJ; Kass, R S RS
Publication Date: 2017-01

Variant appearance in text: LQT1: R231C
PubMed Link: 27807201
Variant Present in the following documents:
  • Main text
View BVdb publication page



Molecular pathogenesis of long QT syndrome type 1.

Journal Of Arrhythmia
Wu, Jie J; Ding, Wei-Guang WG; Horie, Minoru M
Publication Date: 2016-10

Variant appearance in text: KCNQ1: R231C
PubMed Link: 27761162
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



Cardiac Delayed Rectifier Potassium Channels in Health and Disease.

Cardiac Electrophysiology Clinics
Chen, Lei L; Sampson, Kevin J KJ; Kass, Robert S RS
Publication Date: 2016-06

Variant appearance in text: KCNQ1: R231C
PubMed Link: 27261823
Variant Present in the following documents:
  • Main text
View BVdb publication page



Bayesian models for syndrome- and gene-specific probabilities of novel variant pathogenicity.

Genome Medicine
Ruklisa, Dace D; Ware, James S JS; Walsh, Roddy R; Balding, David J DJ; Cook, Stuart A SA
Publication Date: 2015

Variant appearance in text: KCNQ1: 691C>T
PubMed Link: 25649125
Variant Present in the following documents:
  • 13073_2014_120_MOESM1_ESM.pdf
View BVdb publication page



Atrial fibrillation: the role of common and rare genetic variants.

European Journal Of Human Genetics : Ejhg
Olesen, Morten S MS; Nielsen, Morten W MW; Haunsø, Stig S; Svendsen, Jesper H JH
Publication Date: 2014-03

Variant appearance in text: KCNQ1: Arg231Cys
PubMed Link: 23838598
Variant Present in the following documents:
  • Main text
View BVdb publication page



Polymorphisms but not mutations of the KCNQ1 gene are associated with lone atrial fibrillation in the Chinese Han population.

Thescientificworldjournal
Chu, Hui-min HM; Feng, Ming-jun MJ; Li, Yi-gang YG; Zhang, Yi-xin YX; Ma, Ji-fang JF; He, Bin B; Yu, Yi-bo YB; Liu, Jing J; Chen, Xiao-min XM
Publication Date: 2013

Variant appearance in text: KCNQ1: R231C
PubMed Link: 23710137
Variant Present in the following documents:
  • Main text
View BVdb publication page



Atrial Fibrillation and Long QT Syndrome Presenting in a 12-Year-Old Girl.

Case Reports In Pediatrics
Knoche, Jonathan W JW; Orland, Kate M KM; January, Craig T CT; Maginot, Kathleen R KR
Publication Date: 2012

Variant appearance in text: KCNQ1: R231C
PubMed Link: 23193492
Variant Present in the following documents:
  • Main text
  • CRIM.PEDIATRICS2012-124838.pdf
View BVdb publication page



Vagal reflexes following an exercise stress test: a simple clinical tool for gene-specific risk stratification in the long QT syndrome.

Journal Of The American College Of Cardiology
Crotti, Lia L; Spazzolini, Carla C; Porretta, Alessandra P AP; Dagradi, Federica F; Taravelli, Erika E; Petracci, Barbara B; Vicentini, Alessandro A; Pedrazzini, Matteo M; La Rovere, Maria Teresa MT; Vanoli, Emilio E; Goosen, Althea A; Heradien, Marshall M; George, Alfred L AL; Brink, Paul A PA; Schwartz, Peter J PJ
Publication Date: 2012-12-18

Variant appearance in text: KCNQ1: R231C
PubMed Link: 23158531
Variant Present in the following documents:
  • Main text
View BVdb publication page



KCNQ1 channels do not undergo concerted but sequential gating transitions in both the absence and the presence of KCNE1 protein.

The Journal Of Biological Chemistry
Meisel, Eshcar E; Dvir, Meidan M; Haitin, Yoni Y; Giladi, Moshe M; Peretz, Asher A; Attali, Bernard B
Publication Date: 2012-10-05

Variant appearance in text: KCNQ1: R231C
PubMed Link: 22908235
Variant Present in the following documents:
  • Main text
View BVdb publication page



Pathophysiological role of omega pore current in channelopathies.

Frontiers In Pharmacology
Jurkat-Rott, Karin K; Groome, James J; Lehmann-Horn, Frank F
Publication Date: 2012

Variant appearance in text: KCNQ1: R231C
PubMed Link: 22701429
Variant Present in the following documents:
  • Main text
  • fphar-03-00112.pdf
View BVdb publication page



Allosteric gating mechanism underlies the flexible gating of KCNQ1 potassium channels.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Osteen, Jeremiah D JD; Barro-Soria, Rene R; Robey, Seth S; Sampson, Kevin J KJ; Kass, Robert S RS; Larsson, H Peter HP
Publication Date: 2012-05-01

Variant appearance in text: KCNQ1: R231C
PubMed Link: 22509038
Variant Present in the following documents:
  • Main text
View BVdb publication page



R231C mutation in KCNQ1 causes long QT syndrome type 1 and familial atrial fibrillation.

Heart Rhythm
Bartos, Daniel C DC; Duchatelet, Sabine S; Burgess, Don E DE; Klug, Didier D; Denjoy, Isabelle I; Peat, Rachel R; Lupoglazoff, Jean-Marc JM; Fressart, Véronique V; Berthet, Myriam M; Ackerman, Michael J MJ; January, Craig T CT; Guicheney, Pascale P; Delisle, Brian P BP
Publication Date: 2011-01

Variant appearance in text: LQT1: Arg231Cys
PubMed Link: 20850564
Variant Present in the following documents:
  • Main text
View BVdb publication page



KCNE peptides differently affect voltage sensor equilibrium and equilibration rates in KCNQ1 K+ channels.

The Journal Of General Physiology
Rocheleau, Jessica M JM; Kobertz, William R WR
Publication Date: 2008-01

Variant appearance in text: KCNQ1: R231C
PubMed Link: 18079560
Variant Present in the following documents:
  • Main text
  • jgp1310059.pdf
View BVdb publication page



KCNE1 and KCNE3 stabilize and/or slow voltage sensing S4 segment of KCNQ1 channel.

The Journal Of General Physiology
Nakajo, Koichi K; Kubo, Yoshihiro Y
Publication Date: 2007-09

Variant appearance in text: KCNQ1: R231C
PubMed Link: 17698596
Variant Present in the following documents:
  • Main text
View BVdb publication page