KCNQ1 c.817C>T ;(p.L273F)

Variant ID: 11-2594112-C-T

NM_000218.2(KCNQ1):c.817C>T;(p.L273F)

This variant was identified in 34 publications

View GRCh38 version.




Publications:


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: 817C>T; Leu273Phe
PubMed Link: 37086329
Variant Present in the following documents:
  • 439_2023_2559_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Shared and distinct ultra-rare genetic risk for diverse epilepsies: A whole-exome sequencing study of 54,423 individuals across multiple genetic ancestries.

Medrxiv : The Preprint Server For Health Sciences
, ; Chen, Siwei S; Neale, Benjamin M BM; Berkovic, Samuel F SF
Publication Date: 2023-02-24

Variant appearance in text: KCNQ1: 817C>T; Leu273Phe
PubMed Link: 36865150
Variant Present in the following documents:
  • media-2.xlsx, sheet 9
View BVdb publication page



Assessment of absolute risk of life-threatening cardiac events in long QT syndrome patients.

Frontiers In Cardiovascular Medicine
Wang, Meng M; Peterson, Derick R DR; Pagan, Eleonora E; Bagnardi, Vincenzo V; Mazzanti, Andrea A; McNitt, Scott S; Rich, David Q DQ; Seplaki, Christopher L CL; Kutyifa, Valentina V; Polonsky, Bronislava B; Barsheshet, Alon A; Kukavica, Deni D; Rosero, Spencer S; Goldenberg, Ilan I; Priori, Silvia S; Zareba, Wojciech W
Publication Date: 2022

Variant appearance in text: LQT1: L273F
PubMed Link: 36277779
Variant Present in the following documents:
  • Data_Sheet_1.pdf
View BVdb publication page



Overlap phenotypes of the left ventricular noncompaction and hypertrophic cardiomyopathy with complex arrhythmias and heart failure induced by the novel truncated DSC2 mutation.

Orphanet Journal Of Rare Diseases
Lin, Yubi Y; Huang, Jiana J; Zhu, Zhiling Z; Zhang, Zuoquan Z; Xian, Jianzhong J; Yang, Zhe Z; Qin, Tingfeng T; Chen, Linxi L; Huang, Jingmin J; Huang, Yin Y; Wu, Qiaoyun Q; Hu, Zhenyu Z; Lin, Xiufang X; Xu, Geyang G
Publication Date: 2021-11-24

Variant appearance in text: KCNQ1: 817C>T; L273F
PubMed Link: 34819141
Variant Present in the following documents:
  • Main text
View BVdb publication page



Overlap phenotypes of the left ventricular noncompaction and hypertrophic cardiomyopathy with complex arrhythmias and heart failure induced by the novel truncated DSC2 mutation.

Orphanet Journal Of Rare Diseases
Lin, Yubi Y; Huang, Jiana J; Zhu, Zhiling Z; Zhang, Zuoquan Z; Xian, Jianzhong J; Yang, Zhe Z; Qin, Tingfeng T; Chen, Linxi L; Huang, Jingmin J; Huang, Yin Y; Wu, Qiaoyun Q; Hu, Zhenyu Z; Lin, Xiufang X; Xu, Geyang G
Publication Date: 2021-11-24

Variant appearance in text: KCNQ1: 817C>T; L273F
PubMed Link: 34819141
Variant Present in the following documents:
  • Main text
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: 817C>T; Leu273Phe; rs120074180
PubMed Link: 34078906
Variant Present in the following documents:
  • 41525_2021_203_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Antiepileptic rufinamide and QTc interval shortening in a patient with long QT syndrome: case report.

European Heart Journal. Case Reports
Mondal, Tapas T; Sullivan, Kristen K; Divakaramenon, Syam S; Hamilton, Robert M RM
Publication Date: 2020-12

Variant appearance in text: KCNQ1: Leu273Phe
PubMed Link: 33442618
Variant Present in the following documents:
  • Main text
  • ytaa336.pdf
View BVdb publication page



Neurological Disorders and Risk of Arrhythmia.

International Journal Of Molecular Sciences
Bernardi, Joyce J; Aromolaran, Kelly A KA; Aromolaran, Ademuyiwa S AS
Publication Date: 2020-12-27

Variant appearance in text: KCNQ1: L273F
PubMed Link: 33375447
Variant Present in the following documents:
  • Main text
  • ijms-22-00188.pdf
View BVdb publication page



Exome sequencing and characterization of 49,960 individuals in the UK Biobank.

Nature
Van Hout, Cristopher V CV; Tachmazidou, Ioanna I; Backman, Joshua D JD; Hoffman, Joshua D JD; Liu, Daren D; Pandey, Ashutosh K AK; Gonzaga-Jauregui, Claudia C; Khalid, Shareef S; Ye, Bin B; Banerjee, Nilanjana N; Li, Alexander H AH; O'Dushlaine, Colm C; Marcketta, Anthony A; Staples, Jeffrey J; Schurmann, Claudia C; Hawes, Alicia A; Maxwell, Evan E; Barnard, Leland L; Lopez, Alexander A; Penn, John J; Habegger, Lukas L; Blumenfeld, Andrew L AL; Bai, Xiaodong X; O'Keeffe, Sean S; Yadav, Ashish A; Praveen, Kavita K; Jones, Marcus M; Salerno, William J WJ; Chung, Wendy K WK; Surakka, Ida I; Willer, Cristen J CJ; Hveem, Kristian K; Leader, Joseph B JB; Carey, David J DJ; Ledbetter, David H DH; , ; Cardon, Lon L; Yancopoulos, George D GD; Economides, Aris A; Coppola, Giovanni G; Shuldiner, Alan R AR; Balasubramanian, Suganthi S; Cantor, Michael M; , ; Nelson, Matthew R MR; Whittaker, John J; Reid, Jeffrey G JG; Marchini, Jonathan J; Overton, John D JD; Scott, Robert A RA; Abecasis, Gonçalo R GR; Yerges-Armstrong, Laura L; Baras, Aris A
Publication Date: 2020-10

Variant appearance in text: KCNQ1: 817C>T; Leu273Phe; rs120074180
PubMed Link: 33087929
Variant Present in the following documents:
  • 41586_2020_2853_MOESM11_ESM.xlsx, sheet 1
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: 817C>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



Gating and Regulation of KCNQ1 and KCNQ1 + KCNE1 Channel Complexes.

Frontiers In Physiology
Wang, Yundi Y; Eldstrom, Jodene J; Fedida, David D
Publication Date: 2020

Variant appearance in text: KCNQ1: L273F
PubMed Link: 32581825
Variant Present in the following documents:
  • Main text
  • fphys-11-00504.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: L273F
PubMed Link: 32431610
Variant Present in the following documents:
  • Main text
View BVdb publication page



Two-stage electro-mechanical coupling of a KV channel in voltage-dependent activation.

Nature Communications
Hou, Panpan P; Kang, Po Wei PW; Kongmeneck, Audrey Deyawe AD; Yang, Nien-Du ND; Liu, Yongfeng Y; Shi, Jingyi J; Xu, Xianjin X; White, Kelli McFarland KM; Zaydman, Mark A MA; Kasimova, Marina A MA; Seebohm, Guiscard G; Zhong, Ling L; Zou, Xiaoqin X; Tarek, Mounir M; Cui, Jianmin J
Publication Date: 2020-02-03

Variant appearance in text: KCNQ1: L273F
PubMed Link: 32015334
Variant Present in the following documents:
  • 41467_2020_14406_MOESM1_ESM.pdf
  • 41467_2020_Article_14406.pdf
View BVdb publication page



Systematic Review of Genotype-Phenotype Correlations in Noncompaction Cardiomyopathy.

Journal Of The American Heart Association
van Waning, Jaap I JI; Moesker, Joost J; Heijsman, Daphne D; Boersma, Eric E; Majoor-Krakauer, Danielle D
Publication Date: 2019-12-03

Variant appearance in text: KCNQ1: 817C>T
PubMed Link: 31771441
Variant Present in the following documents:
  • JAH3-8-e012993.pdf
  • JAH3-8-e012993-s001.pdf
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: 817C>T; L273F
PubMed Link: 31484976
Variant Present in the following documents:
  • 41598_2019_49224_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.

American Journal Of Human Genetics
Wright, Caroline F CF; West, Ben B; Tuke, Marcus M; Jones, Samuel E SE; Patel, Kashyap K; Laver, Thomas W TW; Beaumont, Robin N RN; Tyrrell, Jessica J; Wood, Andrew R AR; Frayling, Timothy M TM; Hattersley, Andrew T AT; Weedon, Michael N MN
Publication Date: 2019-02-07

Variant appearance in text: KCNQ1: L273F; rs120074180
PubMed Link: 30665703
Variant Present in the following documents:
  • mmc3.xlsx, sheet 1
View BVdb publication page



Inactivation gating of Kv7.1 channels does not involve concerted cooperative subunit interactions.

Channels (Austin, Tex.)
Meisel, Eshcar E; Tobelaim, William W; Dvir, Meidan M; Haitin, Yoni Y; Peretz, Asher A; Attali, Bernard B
Publication Date: 2018-01-01

Variant appearance in text: Kv7.1: L273F
PubMed Link: 29451064
Variant Present in the following documents:
  • Main text
  • kchl-12-01-1441649.pdf
View BVdb publication page



Inactivation of KCNQ1 potassium channels reveals dynamic coupling between voltage sensing and pore opening.

Nature Communications
Hou, Panpan P; Eldstrom, Jodene J; Shi, Jingyi J; Zhong, Ling L; McFarland, Kelli K; Gao, Yuan Y; Fedida, David D; Cui, Jianmin J
Publication Date: 2017-11-23

Variant appearance in text: KCNQ1: L273F
PubMed Link: 29167462
Variant Present in the following documents:
  • Main text
  • 41467_2017_1911_MOESM2_ESM.pdf
  • 41467_2017_Article_1911.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: 817C>T; Leu273Phe
PubMed Link: 28569743
Variant Present in the following documents:
  • gim201760x7.xlsx, sheet 2
View BVdb publication page



Potassium Channels and Human Epileptic Phenotypes: An Updated Overview.

Frontiers In Cellular Neuroscience
Villa, Chiara C; Combi, Romina R
Publication Date: 2016

Variant appearance in text: KCNQ1: Leu273Phe
PubMed Link: 27064559
Variant Present in the following documents:
  • Main text
  • fncel-10-00081.pdf
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: LQT1: L273F
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: KCNQ1: L273F
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 5
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: 817C>T
PubMed Link: 25649125
Variant Present in the following documents:
  • 13073_2014_120_MOESM1_ESM.pdf
View BVdb publication page



Mutations in Danish patients with long QT syndrome and the identification of a large founder family with p.F29L in KCNH2.

Bmc Medical Genetics
Christiansen, Michael M; Hedley, Paula L PL; Theilade, Juliane J; Stoevring, Birgitte B; Leren, Trond P TP; Eschen, Ole O; Sørensen, Karina M KM; Tybjærg-Hansen, Anne A; Ousager, Lilian B LB; Pedersen, Lisbeth N LN; Frikke-Schmidt, Ruth R; Aidt, Frederik H FH; Hansen, Michael G MG; Hansen, Jim J; Bloch Thomsen, Poul E PE; Toft, Egon E; Henriksen, Finn L FL; Bundgaard, Henning H; Jensen, Henrik K HK; Kanters, Jørgen K JK
Publication Date: 2014-03-07

Variant appearance in text: KCNQ1: L273F
PubMed Link: 24606995
Variant Present in the following documents:
  • Main text
  • 1471-2350-15-31.pdf
View BVdb publication page



Tuning of EAG K(+) channel inactivation: molecular determinants of amplification by mutations and a small molecule.

The Journal Of General Physiology
Garg, Vivek V; Sachse, Frank B FB; Sanguinetti, Michael C MC
Publication Date: 2012-09

Variant appearance in text: KCNQ1: L273F
PubMed Link: 22930803
Variant Present in the following documents:
  • Main text
  • JGP_201210826.pdf
View BVdb publication page



Pore helix-S6 interactions are critical in governing current amplitudes of KCNQ3 K+ channels.

Biophysical Journal
Choveau, Frank S FS; Bierbower, Sonya M SM; Shapiro, Mark S MS
Publication Date: 2012-06-06

Variant appearance in text: KCNQ1: L273F
PubMed Link: 22713565
Variant Present in the following documents:
  • Main text
View BVdb publication page



Unexplained drownings and the cardiac channelopathies: a molecular autopsy series.

Mayo Clinic Proceedings
Tester, David J DJ; Medeiros-Domingo, Argelia A; Will, Melissa L ML; Ackerman, Michael J MJ
Publication Date: 2011-10

Variant appearance in text: KCNQ1: L273F
PubMed Link: 21964171
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: LQT1: L273F
PubMed Link: 20670193
Variant Present in the following documents:
  • Main text
View BVdb publication page



Epidemiologic, molecular, and functional evidence suggest A572D-SCN5A should not be considered an independent LQT3-susceptibility mutation.

Heart Rhythm
Tester, David J DJ; Valdivia, Carmen C; Harris-Kerr, Carole C; Alders, Marielle M; Salisbury, Benjamin A BA; Wilde, Arthur A M AA; Makielski, Jonathan C JC; Ackerman, Michael J MJ
Publication Date: 2010-07

Variant appearance in text: LQT1: L273F
PubMed Link: 20403459
Variant Present in the following documents:
  • Main text
View BVdb publication page



Determinants within the turret and pore-loop domains of KCNQ3 K+ channels governing functional activity.

Biophysical Journal
Zaika, Oleg O; Hernandez, Ciria C CC; Bal, Manjot M; Tolstykh, Gleb P GP; Shapiro, Mark S MS
Publication Date: 2008-12

Variant appearance in text: KCNQ1: L273F
PubMed Link: 18790849
Variant Present in the following documents:
  • Main text
View BVdb publication page



Tl+-induced micros gating of current indicates instability of the MaxiK selectivity filter as caused by ion/pore interaction.

The Journal Of General Physiology
Schroeder, Indra I; Hansen, Ulf-Peter UP
Publication Date: 2008-04

Variant appearance in text: KCNQ1: L273F
PubMed Link: 18378799
Variant Present in the following documents:
  • jgp1310365.pdf
View BVdb publication page



An inactivation gate in the selectivity filter of KCNQ1 potassium channels.

Biophysical Journal
Gibor, Gilad G; Yakubovich, Daniel D; Rosenhouse-Dantsker, Avia A; Peretz, Asher A; Schottelndreier, Hella H; Seebohm, Guiscard G; Dascal, Nathan N; Logothetis, Diomedes E DE; Paas, Yoav Y; Attali, Bernard B
Publication Date: 2007-12-15

Variant appearance in text: KCNQ1: L273F
PubMed Link: 17704175
Variant Present in the following documents:
  • Main text
View BVdb publication page



Clinical aspects of type-1 long-QT syndrome by location, coding type, and biophysical function of mutations involving the KCNQ1 gene.

Circulation
Moss, Arthur J AJ; Shimizu, Wataru W; Wilde, Arthur A M AA; Towbin, Jeffrey A JA; Zareba, Wojciech W; Robinson, Jennifer L JL; Qi, Ming M; Vincent, G Michael GM; Ackerman, Michael J MJ; Kaufman, Elizabeth S ES; Hofman, Nynke N; Seth, Rahul R; Kamakura, Shiro S; Miyamoto, Yoshihiro Y; Goldenberg, Ilan I; Andrews, Mark L ML; McNitt, Scott S
Publication Date: 2007-05-15

Variant appearance in text: KCNQ1: L273F
PubMed Link: 17470695
Variant Present in the following documents:
  • Main text
View BVdb publication page



Mutation of colocalized residues of the pore helix and transmembrane segments S5 and S6 disrupt deactivation and modify inactivation of KCNQ1 K+ channels.

The Journal Of Physiology
Seebohm, Guiscard G; Westenskow, Peter P; Lang, Florian F; Sanguinetti, Michael C MC
Publication Date: 2005-03-01

Variant appearance in text: KCNQ1: L273F
PubMed Link: 15649981
Variant Present in the following documents:
  • Main text
View BVdb publication page



Modulation of homomeric and heteromeric KCNQ1 channels by external acidification.

The Journal Of Physiology
Peretz, Asher A; Schottelndreier, Hella H; Aharon-Shamgar, Liora Ben LB; Attali, Bernard B
Publication Date: 2002-12-15

Variant appearance in text: KCNQ1: L273F
PubMed Link: 12482884
Variant Present in the following documents:
  • Main text
View BVdb publication page