KCNQ1 c.929T>C ;(p.V310A)

Variant ID: 11-2604672-T-C

NM_000218.2(KCNQ1):c.929T>C;(p.V310A)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Hydrophobic interactions between the S5 segment and the pore helix stabilizes the closed state of Slo2.1 potassium channels.

Biochimica Et Biophysica Acta
Suzuki, Tomoyuki T; Hansen, Angela A; Sanguinetti, Michael C MC
Publication Date: 2016-04

Variant appearance in text: KCNQ1: V310A
PubMed Link: 26724206
Variant Present in the following documents:
  • Main text
View BVdb publication page



Tuning of EAG K(+) channel inactivation: molecular determinants of amplification by mutations and a small molecule.

The Journal Of General Physiology
Garg, Vivek V; Sachse, Frank B FB; Sanguinetti, Michael C MC
Publication Date: 2012-09

Variant appearance in text: KCNQ1: V310A
PubMed Link: 22930803
Variant Present in the following documents:
  • Main text
  • JGP_201210826.pdf
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: V310A
PubMed Link: 21320432
Variant Present in the following documents:
  • Main text
View BVdb publication page



Mutation of colocalized residues of the pore helix and transmembrane segments S5 and S6 disrupt deactivation and modify inactivation of KCNQ1 K+ channels.

The Journal Of Physiology
Seebohm, Guiscard G; Westenskow, Peter P; Lang, Florian F; Sanguinetti, Michael C MC
Publication Date: 2005-03-01

Variant appearance in text: KCNQ1: V310A
PubMed Link: 15649981
Variant Present in the following documents:
  • Main text
View BVdb publication page