KCNQ1 c.748_749delinsGC ;(p.L250A)

Variant ID: 11-2593307-CT-GC

NM_000218.2(KCNQ1):c.748_749delinsGC;(p.L250A)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


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: L250A
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: L250A
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: L250A
PubMed Link: 21059661
Variant Present in the following documents:
  • Main text
View BVdb publication page