KCNQ1 c.758_759inv ;(p.S253W)

Variant ID: 11-2593317-CC-GG

NM_000218.2(KCNQ1):c.758_759inv;(p.S253W)

This variant was identified in 2 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: S253W
PubMed Link: 32015334
Variant Present in the following documents:
  • 41467_2020_14406_MOESM1_ESM.pdf
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: S253W
PubMed Link: 21059661
Variant Present in the following documents:
  • Main text
View BVdb publication page