KCNQ1 c.769_770delinsGC ;(p.I257A)

Variant ID: 11-2593328-AT-GC

NM_000218.2(KCNQ1):c.769_770delinsGC;(p.I257A)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


The residue I257 at S4-S5 linker in KCNQ1 determines KCNQ1/KCNE1 channel sensitivity to 1-alkanols.

Acta Pharmacologica Sinica
Xie, Chang C; Liu, Hao-wen HW; Pan, Na N; Ding, Jiu-ping JP; Yao, Jing J
Publication Date: 2016-01

Variant appearance in text: KCNQ1: I257A
PubMed Link: 26725740
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: I257A
PubMed Link: 21320432
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: I257A
PubMed Link: 21059661
Variant Present in the following documents:
  • Main text
View BVdb publication page