KCNQ1 c.991_992delinsGC ;(p.C331A)

Variant ID: 11-2604734-TG-GC

NM_000218.2(KCNQ1):c.991_992delinsGC;(p.C331A)

This variant was identified in 20 publications

View GRCh38 version.




Publications:


Electro-mechanical coupling of KCNQ channels is a target of epilepsy-associated mutations and retigabine.

Science Advances
Yang, Nien-Du ND; Kanyo, Richard R; Zhao, Lu L; Li, Jingru J; Kang, Po Wei PW; Dou, Alex Kelly AK; White, Kelli McFarland KM; Shi, Jingyi J; Nerbonne, Jeanne M JM; Kurata, Harley T HT; Cui, Jianmin J
Publication Date: 2022-07-22

Variant appearance in text: KCNQ1: C331A
PubMed Link: 35857840
Variant Present in the following documents:
  • Main text
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A benzodiazepine activator locks Kv7.1 channels open by electro-mechanical uncoupling.

Communications Biology
Schreiber, Julian A JA; Möller, Melina M; Zaydman, Mark M; Zhao, Lu L; Beller, Zachary Z; Becker, Sebastian S; Ritter, Nadine N; Hou, Panpan P; Shi, Jingyi J; Silva, Jon J; Wrobel, Eva E; Strutz-Seebohm, Nathalie N; Decher, Niels N; Schmitt, Nicole N; Meuth, Sven G SG; Düfer, Martina M; Wünsch, Bernhard B; Cui, Jianmin J; Seebohm, Guiscard G
Publication Date: 2022-04-01

Variant appearance in text: KCNQ1: C331A
PubMed Link: 35365746
Variant Present in the following documents:
  • Main text
  • 42003_2022_Article_3229.pdf
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A general mechanism of KCNE1 modulation of KCNQ1 channels involving non-canonical VSD-PD coupling.

Communications Biology
Wu, Xiaoan X; Perez, Marta E ME; Noskov, Sergei Yu SY; Larsson, H Peter HP
Publication Date: 2021-07-20

Variant appearance in text: KCNQ1: C331A
PubMed Link: 34285340
Variant Present in the following documents:
  • Main text
  • 42003_2021_Article_2418.pdf
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Modulating the voltage sensor of a cardiac potassium channel shows antiarrhythmic effects.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Lin, Yangyang Y; Grinter, Sam Z SZ; Lu, Zhongju Z; Xu, Xianjin X; Wang, Hong Zhan HZ; Liang, Hongwu H; Hou, Panpan P; Gao, Junyuan J; Clausen, Chris C; Shi, Jingyi J; Zhao, Wenshan W; Ma, Zhiwei Z; Liu, Yongfeng Y; White, Kelli McFarland KM; Zhao, Lu L; Kang, Po Wei PW; Zhang, Guohui G; Cohen, Ira S IS; Zou, Xiaoqin X; Cui, Jianmin J
Publication Date: 2021-05-18

Variant appearance in text: KCNQ1: C331A
PubMed Link: 33990467
Variant Present in the following documents:
  • Main text
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Calmodulin acts as a state-dependent switch to control a cardiac potassium channel opening.

Science Advances
Kang, Po Wei PW; Westerlund, Annie M AM; Shi, Jingyi J; White, Kelli McFarland KM; Dou, Alex K AK; Cui, Amy H AH; Silva, Jonathan R JR; Delemotte, Lucie L; Cui, Jianmin J
Publication Date: 2020-12

Variant appearance in text: KCNQ1: C331A
PubMed Link: 33310856
Variant Present in the following documents:
  • Main text
  • abd6798.pdf
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Calmodulin acts as a state-dependent switch to control a cardiac potassium channel opening.

Science Advances
Kang, Po Wei PW; Westerlund, Annie M AM; Shi, Jingyi J; White, Kelli McFarland KM; Dou, Alex K AK; Cui, Amy H AH; Silva, Jonathan R JR; Delemotte, Lucie L; Cui, Jianmin J
Publication Date: 2020-12

Variant appearance in text: KCNQ1: C331A
PubMed Link: 33310856
Variant Present in the following documents:
  • Main text
  • abd6798.pdf
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A PIP2 substitute mediates voltage sensor-pore coupling in KCNQ activation.

Communications Biology
Liu, Yongfeng Y; Xu, Xianjin X; Gao, Junyuan J; Naffaa, Moawiah M MM; Liang, Hongwu H; Shi, Jingyi J; Wang, Hong Zhan HZ; Yang, Nien-Du ND; Hou, Panpan P; Zhao, Wenshan W; White, Kelli McFarland KM; Kong, Wenjuan W; Dou, Alex A; Cui, Amy A; Zhang, Guohui G; Cohen, Ira S IS; Zou, Xiaoqin X; Cui, Jianmin J
Publication Date: 2020-07-16

Variant appearance in text: KCNQ1: C331A
PubMed Link: 32678288
Variant Present in the following documents:
  • Main text
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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: C331A
PubMed Link: 32581825
Variant Present in the following documents:
  • Main text
  • fphys-11-00504.pdf
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Structure and physiological function of the human KCNQ1 channel voltage sensor intermediate state.

Elife
Taylor, Keenan C KC; Kang, Po Wei PW; Hou, Panpan P; Yang, Nien-Du ND; Kuenze, Georg G; Smith, Jarrod A JA; Shi, Jingyi J; Huang, Hui H; White, Kelli McFarland KM; Peng, Dungeng D; George, Alfred L AL; Meiler, Jens J; McFeeters, Robert L RL; Cui, Jianmin J; Sanders, Charles R CR
Publication Date: 2020-02-25

Variant appearance in text: KCNQ1: C331A
PubMed Link: 32096762
Variant Present in the following documents:
  • Main text
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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: C331A
PubMed Link: 32015334
Variant Present in the following documents:
  • Main text
  • 41467_2020_Article_14406.pdf
  • 41467_2020_14406_MOESM2_ESM.pdf
  • 41467_2020_14406_MOESM1_ESM.pdf
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ML277 specifically enhances the fully activated open state of KCNQ1 by modulating VSD-pore coupling.

Elife
Hou, Panpan P; Shi, Jingyi J; White, Kelli McFarland KM; Gao, Yuan Y; Cui, Jianmin J
Publication Date: 2019-07-22

Variant appearance in text: KCNQ1: C331A
PubMed Link: 31329101
Variant Present in the following documents:
  • Main text
  • elife-48576.pdf
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I ion-channel pore conductance can result from individual voltage sensor movements.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Westhoff, Maartje M; Eldstrom, Jodene J; Murray, Christopher I CI; Thompson, Emely E; Fedida, David D
Publication Date: 2019-04-16

Variant appearance in text: KCNQ1: C331A
PubMed Link: 30918124
Variant Present in the following documents:
  • Main text
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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: C331A
PubMed Link: 29167462
Variant Present in the following documents:
  • Main text
  • 41467_2017_Article_1911.pdf
  • 41467_2017_1911_MOESM2_ESM.pdf
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Voltage-Dependent Gating: Novel Insights from KCNQ1 Channels.

Biophysical Journal
Cui, Jianmin J
Publication Date: 2016-01-05

Variant appearance in text: KCNQ1: C331A
PubMed Link: 26745405
Variant Present in the following documents:
  • Main text
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Domain-domain interactions determine the gating, permeation, pharmacology, and subunit modulation of the IKs ion channel.

Elife
Zaydman, Mark A MA; Kasimova, Marina A MA; McFarland, Kelli K; Beller, Zachary Z; Hou, Panpan P; Kinser, Holly E HE; Liang, Hongwu H; Zhang, Guohui G; Shi, Jingyi J; Tarek, Mounir M; Cui, Jianmin J
Publication Date: 2014-12-23

Variant appearance in text: KCNQ1: C331A
PubMed Link: 25535795
Variant Present in the following documents:
  • Main text
  • elife03606.pdf
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Kv7.1 ion channels require a lipid to couple voltage sensing to pore opening.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Zaydman, Mark A MA; Silva, Jonathan R JR; Delaloye, Kelli K; Li, Yang Y; Liang, Hongwu H; Larsson, H Peter HP; Shi, Jingyi J; Cui, Jianmin J
Publication Date: 2013-08-06

Variant appearance in text: Kv7.1: C331A
PubMed Link: 23861489
Variant Present in the following documents:
  • Main text
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Probing the structural basis for differential KCNQ1 modulation by KCNE1 and KCNE2.

The Journal Of General Physiology
Wang, Yuhong Y; Zhang, Mei M; Xu, Yu Y; Jiang, Min M; Zankov, Dimitar P DP; Cui, Meng M; Tseng, Gea-Ny GN
Publication Date: 2012-12

Variant appearance in text: KCNQ1: C331A
PubMed Link: 23183700
Variant Present in the following documents:
  • Main text
  • JGP_201210847.pdf
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Characterization of KCNQ1 atrial fibrillation mutations reveals distinct dependence on KCNE1.

The Journal Of General Physiology
Chan, Priscilla J PJ; Osteen, Jeremiah D JD; Xiong, Dazhi D; Bohnen, Michael S MS; Doshi, Darshan D; Sampson, Kevin J KJ; Marx, Steven O SO; Karlin, Arthur A; Kass, Robert S RS
Publication Date: 2012-02

Variant appearance in text: KCNQ1: C331A
PubMed Link: 22250012
Variant Present in the following documents:
  • Main text
  • JGP_201110672.pdf
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Allosteric features of KCNQ1 gating revealed by alanine scanning mutagenesis.

Biophysical Journal
Ma, Li-Juan LJ; Ohmert, Iris I; Vardanyan, Vitya V
Publication Date: 2011-02-16

Variant appearance in text: KCNQ1: C331A
PubMed Link: 21320432
Variant Present in the following documents:
  • Main text
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KCNE1 alters the voltage sensor movements necessary to open the KCNQ1 channel gate.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Osteen, Jeremiah D JD; Gonzalez, Carlos C; Sampson, Kevin J KJ; Iyer, Vivek V; Rebolledo, Santiago S; Larsson, H Peter HP; Kass, Robert S RS
Publication Date: 2010-12-28

Variant appearance in text: KCNQ1: C331A
PubMed Link: 21149716
Variant Present in the following documents:
  • Main text
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Pore- and state-dependent cadmium block of I(Ks) channels formed with MinK-55C and wild-type KCNQ1 subunits.

Biophysical Journal
Chen, Haijun H; Sesti, Federico F; Goldstein, Steve A N SA
Publication Date: 2003-06

Variant appearance in text: KCNQ1: C331A
PubMed Link: 12770875
Variant Present in the following documents:
  • Main text
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