KCNQ1 c.1045T>G ;(p.S349A)

Variant ID: 11-2606454-T-G

NM_000218.2(KCNQ1):c.1045T>G;(p.S349A)

This variant was identified in 8 publications

View GRCh38 version.




Publications:


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: S349A
PubMed Link: 32015334
Variant Present in the following documents:
  • 41467_2020_14406_MOESM1_ESM.pdf
View BVdb publication page



KCNE1 induces fenestration in the Kv7.1/KCNE1 channel complex that allows for highly specific pharmacological targeting.

Nature Communications
Wrobel, Eva E; Rothenberg, Ina I; Krisp, Christoph C; Hundt, Franziska F; Fraenzel, Benjamin B; Eckey, Karina K; Linders, Joannes T M JT; Gallacher, David J DJ; Towart, Rob R; Pott, Lutz L; Pusch, Michael M; Yang, Tao T; Roden, Dan M DM; Kurata, Harley T HT; Schulze-Bahr, Eric E; Strutz-Seebohm, Nathalie N; Wolters, Dirk D; Seebohm, Guiscard G
Publication Date: 2016-10-12

Variant appearance in text: Kv7.1: S349A
PubMed Link: 27731317
Variant Present in the following documents:
  • ncomms12795.pdf
View BVdb publication page



Voltage-Dependent Gating: Novel Insights from KCNQ1 Channels.

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

Variant appearance in text: KCNQ1: S349A
PubMed Link: 26745405
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: S349A
PubMed Link: 23861489
Variant Present in the following documents:
  • Main text
View BVdb publication page



An allosteric mechanism for drug block of the human cardiac potassium channel KCNQ1.

Molecular Pharmacology
Yang, Tao T; Smith, Jarrod A JA; Leake, Brenda F BF; Sanders, Charles R CR; Meiler, Jens J; Roden, Dan M DM
Publication Date: 2013-02

Variant appearance in text: KCNQ1: S349A
PubMed Link: 23193163
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: S349A
PubMed Link: 21320432
Variant Present in the following documents:
  • Main text
View BVdb publication page



Role of the S6 C-terminus in KCNQ1 channel gating.

The Journal Of Physiology
Boulet, Inge R IR; Labro, Alain J AJ; Raes, Adam L AL; Snyders, Dirk J DJ
Publication Date: 2007-12-01

Variant appearance in text: KCNQ1: S349A
PubMed Link: 17932138
Variant Present in the following documents:
  • Main text
View BVdb publication page