KCNQ1 c.1772G>A ;(p.R591H)

Variant ID: 11-2799245-G-A

NM_000218.2(KCNQ1):c.1772G>A;(p.R591H)

This variant was identified in 26 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: 1772G>A; Arg591His
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: Arg591His
PubMed Link: 36102233
Variant Present in the following documents:
  • JAH3-11-e025108.pdf
  • JAH3-11-e025108-s001.pdf
View BVdb publication page



Targeted deubiquitination rescues distinct trafficking-deficient ion channelopathies.

Nature Methods
Kanner, Scott A SA; Shuja, Zunaira Z; Choudhury, Papiya P; Jain, Ananya A; Colecraft, Henry M HM
Publication Date: 2020-12

Variant appearance in text: KCNQ1: R591H
PubMed Link: 33169015
Variant Present in the following documents:
  • Main text
  • nihms-1636101.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: KCNQ1: 1772G>A; Arg591His
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_MOESM1_ESM.pdf
  • 41436_2020_946_MOESM2_ESM.xlsx, sheet 10
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: R591H
PubMed Link: 32431610
Variant Present in the following documents:
  • Main text
  • fphar-11-00550.pdf
View BVdb publication page



Cardiac Evaluation of Children With a Family History of Sudden Death.

Journal Of The American College Of Cardiology
Webster, Gregory G; Olson, Rachael R; Schoppen, Zachary J ZJ; Giancola, Nicholas N; Balmert, Lauren C LC; Cherny, Sara S; George, Alfred L AL
Publication Date: 2019-08-13

Variant appearance in text: KCNQ1: Arg591His
PubMed Link: 31395126
Variant Present in the following documents:
  • Main text
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: R591H
PubMed Link: 30665703
Variant Present in the following documents:
  • mmc3.xlsx, sheet 1
View BVdb publication page



KCNQ1 p.L353L affects splicing and modifies the phenotype in a founder population with long QT syndrome type 1.

Journal Of Medical Genetics
Kapplinger, Jamie D JD; Erickson, Anders A; Asuri, Sirisha S; Tester, David J DJ; McIntosh, Sarah S; Kerr, Charles R CR; Morrison, Julie J; Tang, Anthony A; Sanatani, Shubhayan S; Arbour, Laura L; Ackerman, Michael J MJ
Publication Date: 2017-06

Variant appearance in text: KCNQ1: R591H
PubMed Link: 28264985
Variant Present in the following documents:
  • Main text
  • jmedgenet-2016-104153.pdf
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: R591H
PubMed Link: 27807201
Variant Present in the following documents:
  • Main text
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: R591H
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: R591H
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 5
View BVdb publication page



Protein domain-level landscape of cancer-type-specific somatic mutations.

Plos Computational Biology
Yang, Fan F; Petsalaki, Evangelia E; Rolland, Thomas T; Hill, David E DE; Vidal, Marc M; Roth, Frederick P FP
Publication Date: 2015-03

Variant appearance in text: KCNQ1: R591H
PubMed Link: 25794154
Variant Present in the following documents:
  • pcbi.1004147.s001.xlsx, sheet 1
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: 1772G>A
PubMed Link: 25649125
Variant Present in the following documents:
  • 13073_2014_120_MOESM1_ESM.pdf
View BVdb publication page



Long QT syndrome in South Africa: the results of comprehensive genetic screening.

Cardiovascular Journal Of Africa
Hedley, Paula L PL; Durrheim, Glenda A GA; Hendricks, Firzana F; Goosen, Althea A; Jespersgaard, Cathrine C; Støvring, Birgitte B; Pham, Tam T TT; Christiansen, Michael M; Brink, Paul A PA; Corfield, Valerie A VA
Publication Date: 2013-07

Variant appearance in text: KCNQ1: R591H
PubMed Link: 24217263
Variant Present in the following documents:
  • Main text
  • cvja-24-231.pdf
View BVdb publication page



Genotype- and Sex-Specific QT-RR Relationship in the Type-1 Long-QT Syndrome.

Journal Of The American Heart Association
Couderc, Jean-Philippe JP; Xia, Xiaojuan X; Denjoy, Isabelle I; Extramiana, Fabrice F; Maison-Blanche, Pierre P; Moss, Arthur J AJ; Zareba, Wojciech W; Lopes, Coeli M CM
Publication Date: 2012-04

Variant appearance in text: LQT1: R591H
PubMed Link: 23130128
Variant Present in the following documents:
  • Main text
  • jah3-1-e000570.pdf
View BVdb publication page



Founder mutations characterise the mutation panorama in 200 Swedish index cases referred for Long QT syndrome genetic testing.

Bmc Cardiovascular Disorders
Stattin, Eva-Lena EL; Boström, Ida Maria IM; Winbo, Annika A; Cederquist, Kristina K; Jonasson, Jenni J; Jonsson, Björn-Anders BA; Diamant, Ulla-Britt UB; Jensen, Steen M SM; Rydberg, Annika A; Norberg, Anna A
Publication Date: 2012-10-25

Variant appearance in text: KCNQ1: 1772G>A; R591H
PubMed Link: 23098067
Variant Present in the following documents:
  • Main text
View BVdb publication page



Variants in the 3' untranslated region of the KCNQ1-encoded Kv7.1 potassium channel modify disease severity in patients with type 1 long QT syndrome in an allele-specific manner.

European Heart Journal
Amin, Ahmad S AS; Giudicessi, John R JR; Tijsen, Anke J AJ; Spanjaart, Anne M AM; Reckman, Yolan J YJ; Klemens, Christine A CA; Tanck, Michael W MW; Kapplinger, Jamie D JD; Hofman, Nynke N; Sinner, Moritz F MF; Müller, Martina M; Wijnen, Wino J WJ; Tan, Hanno L HL; Bezzina, Connie R CR; Creemers, Esther E EE; Wilde, Arthur A M AA; Ackerman, Michael J MJ; Pinto, Yigal M YM
Publication Date: 2012-03

Variant appearance in text: KCNQ1: R591H
PubMed Link: 22199116
Variant Present in the following documents:
View BVdb publication page



Long QT syndrome.

Cmaj : Canadian Medical Association Journal = Journal De L'Association Medicale Canadienne
Jackson, Heather H; Huisman, Lee-Anna LA; Sanatani, Shubhayan S; Arbour, Laura T LT
Publication Date: 2011-08-09

Variant appearance in text: KCNQ1: R591H
PubMed Link: 21482651
Variant Present in the following documents:
  • Main text
View BVdb publication page



A novel desmocollin-2 mutation reveals insights into the molecular link between desmosomes and gap junctions.

Heart Rhythm
Gehmlich, Katja K; Lambiase, Pier D PD; Asimaki, Angeliki A; Ciaccio, Edward J EJ; Ehler, Elisabeth E; Syrris, Petros P; Saffitz, Jeffrey E JE; McKenna, William J WJ
Publication Date: 2011-05

Variant appearance in text: KCNQ1: R591H
PubMed Link: 21220045
Variant Present in the following documents:
  • mmc1.pdf
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: R591H
PubMed Link: 20670193
Variant Present in the following documents:
  • Main text
View BVdb publication page



Ion channel mechanisms related to sudden cardiac death in phenotype-negative long-QT syndrome genotype-phenotype correlations of the KCNQ1(S349W) mutation.

Journal Of Cardiovascular Electrophysiology
Horr, Samuel S; Goldenberg, Ilan I; Moss, Arthur J AJ; O-Uchi, Jin J; Barsheshet, Alon A; Connelly, Heather H; Gray, Daniel A DA; Zareba, Wojciech W; Lopes, Coeli M B CM
Publication Date: 2011-02

Variant appearance in text: KCNQ1: R591H
PubMed Link: 20662986
Variant Present in the following documents:
  • Main text
View BVdb publication page



Novel mechanisms of trafficking defect caused by KCNQ1 mutations found in long QT syndrome.

The Journal Of Biological Chemistry
Sato, Akinori A; Arimura, Takuro T; Makita, Naomasa N; Ishikawa, Taisuke T; Aizawa, Yoshiyasu Y; Ushinohama, Hiroya H; Aizawa, Yoshifusa Y; Kimura, Akinori A
Publication Date: 2009-12-11

Variant appearance in text: KCNQ1: R591H
PubMed Link: 19825999
Variant Present in the following documents:
  • Main text
View BVdb publication page



Crystal structure of a trimeric form of the K(V)7.1 (KCNQ1) A-domain tail coiled-coil reveals structural plasticity and context dependent changes in a putative coiled-coil trimerization motif.

Protein Science : A Publication Of The Protein Society
Xu, Qiang Q; Minor, Daniel L DL
Publication Date: 2009-10

Variant appearance in text: Kv7.1: R591H
PubMed Link: 19693805
Variant Present in the following documents:
  • Main text
View BVdb publication page



Kv7.1 (KCNQ1) properties and channelopathies.

The Journal Of Physiology
Peroz, David D; Rodriguez, Nicolas N; Choveau, Frank F; Baró, Isabelle I; Mérot, Jean J; Loussouarn, Gildas G
Publication Date: 2008-04-01

Variant appearance in text: KCNQ1: R591H
PubMed Link: 18174212
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: R591H
PubMed Link: 17470695
Variant Present in the following documents:
  • Main text
View BVdb publication page



Structural insight into KCNQ (Kv7) channel assembly and channelopathy.

Neuron
Howard, Rebecca J RJ; Clark, Kimberly A KA; Holton, James M JM; Minor, Daniel L DL
Publication Date: 2007-03-01

Variant appearance in text: Kv7.1: R591H
PubMed Link: 17329207
Variant Present in the following documents:
  • Main text
View BVdb publication page