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KCNQ1 c.1057_1058delinsAA ;(p.L353K)
Variant ID: 11-2606466-CT-AA
NM_000218.2(
KCNQ1
):c.1057_1058delinsAA;(p.L353K)
This variant was identified in 9 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
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: L353K
PubMed Link:
32581825
Variant Present in the following documents:
Main text
fphys-11-00504.pdf
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: L353K
PubMed Link:
32015334
Variant Present in the following documents:
41467_2020_14406_MOESM1_ESM.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: KCNQ1: L353K
PubMed Link:
27807201
Variant Present in the following documents:
Main text
View BVdb publication page
PIPâ‚‚-dependent coupling is prominent in Kv7.1 due to weakened interactions between S4-S5 and S6.
Scientific Reports
Kasimova, Marina A MA; Zaydman, Mark A MA; Cui, Jianmin J; Tarek, Mounir M
Publication Date: 2015-01-06
Variant appearance in text: Kv7.1: L353K
PubMed Link:
25559286
Variant Present in the following documents:
Main text
srep07474-s1.pdf
srep07474.pdf
View BVdb publication page
Intracellular ATP binding is required to activate the slowly activating K+ channel I(Ks).
Proceedings Of The National Academy Of Sciences Of The United States Of America
Li, Yang Y; Gao, Junyuan J; Lu, Zhongju Z; McFarland, Kelli K; Shi, Jingyi J; Bock, Kevin K; Cohen, Ira S IS; Cui, Jianmin J
Publication Date: 2013-11-19
Variant appearance in text: KCNQ1: L353K
PubMed Link:
24190995
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: L353K
PubMed Link:
23861489
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: L353K
PubMed Link:
22908235
Variant Present in the following documents:
Main text
View BVdb publication page
The S4-S5 linker of KCNQ1 channels forms a structural scaffold with the S6 segment controlling gate closure.
The Journal Of Biological Chemistry
Labro, Alain J AJ; Boulet, Inge R IR; Choveau, Frank S FS; Mayeur, Evy E; Bruyns, Tine T; Loussouarn, Gildas G; Raes, Adam L AL; Snyders, Dirk J DJ
Publication Date: 2011-01-07
Variant appearance in text: KCNQ1: L353K
PubMed Link:
21059661
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: L353K
PubMed Link:
17932138
Variant Present in the following documents:
Main text
View BVdb publication page