KCNH2 c.1631A>C ;(p.E544A)

Variant ID: 7-150648850-T-G

NM_000238.3(KCNH2):c.1631A>C;(p.E544A)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Structures Illuminate Cardiac Ion Channel Functions in Health and in Long QT Syndrome.

Frontiers In Pharmacology
Brewer, Kathryn R KR; Kuenze, Georg G; Vanoye, Carlos G CG; George, Alfred L AL; Meiler, Jens J; Sanders, Charles R CR
Publication Date: 2020

Variant appearance in text: LQT2: E544A
PubMed Link: 32431610
Variant Present in the following documents:
  • Main text
  • fphar-11-00550.pdf
View BVdb publication page



Tyrosine Residues from the S4-S5 Linker of Kv11.1 Channels Are Critical for Slow Deactivation.

The Journal Of Biological Chemistry
Ng, Chai-Ann CA; Gravel, Andrée E AE; Perry, Matthew D MD; Arnold, Alexandre A AA; Marcotte, Isabelle I; Vandenberg, Jamie I JI
Publication Date: 2016-08-12

Variant appearance in text: Kv11.1: E544A
PubMed Link: 27317659
Variant Present in the following documents:
  • Main text
View BVdb publication page



Direct interaction of eag domains and cyclic nucleotide-binding homology domains regulate deactivation gating in hERG channels.

The Journal Of General Physiology
Gianulis, Elena C EC; Liu, Qiangni Q; Trudeau, Matthew C MC
Publication Date: 2013-10

Variant appearance in text: HERG: E544A
PubMed Link: 24043860
Variant Present in the following documents:
  • JGP_201310995.pdf
View BVdb publication page



The S4-S5 linker acts as a signal integrator for HERG K+ channel activation and deactivation gating.

Plos One
Ng, Chai Ann CA; Perry, Matthew D MD; Tan, Peter S PS; Hill, Adam P AP; Kuchel, Philip W PW; Vandenberg, Jamie I JI
Publication Date: 2012

Variant appearance in text: HERG: E544A
PubMed Link: 22359612
Variant Present in the following documents:
  • Main text
  • pone.0031640.pdf
View BVdb publication page