KCNH2 c.1592G>A ;(p.R531Q)

Variant ID: 7-150648889-C-T

NM_000238.3(KCNH2):c.1592G>A;(p.R531Q)

This variant was identified in 9 publications

View GRCh38 version.




Publications:


Modeling long QT syndrome type 2 on-a-chip via in-depth assessment of isogenic gene-edited 3D cardiac tissues.

Science Advances
Veldhuizen, Jaimeson J; Mann, Helen F HF; Karamanova, Nina N; Van Horn, Wade D WD; Migrino, Raymond Q RQ; Brafman, David D; Nikkhah, Mehdi M
Publication Date: 2022-12-16

Variant appearance in text: Kv11.1: R531Q
PubMed Link: 36525500
Variant Present in the following documents:
  • Main text
  • sciadv.abq6720.pdf
View BVdb publication page



Molecular dynamics simulations suggest possible activation and deactivation pathways in the hERG channel.

Communications Biology
Costa, Flavio F; Guardiani, Carlo C; Giacomello, Alberto A
Publication Date: 2022-02-24

Variant appearance in text: HERG: R531Q
PubMed Link: 35210539
Variant Present in the following documents:
  • 42003_2022_Article_3074.pdf
  • 42003_2022_3074_MOESM1_ESM.pdf
View BVdb publication page



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: R531Q
PubMed Link: 32431610
Variant Present in the following documents:
  • Main text
View BVdb publication page



Endocrinopathies in a boy with cryptic copy-number variations on 4q, 7q and Xp.

Human Genome Variation
Okuno, Misako M; Ogata, Tsutomu T; Nakabayashi, Kazuhiko K; Urakami, Tatsuhiko T; Fukami, Maki M; Nagasaki, Keisuke K
Publication Date: 2015

Variant appearance in text: KCNH2: R531Q
PubMed Link: 27081533
Variant Present in the following documents:
  • hgv201520.pdf
View BVdb publication page



Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One
Holehouse, Alex S AS; Naegle, Kristen M KM
Publication Date: 2015

Variant appearance in text: LQT2: R531Q
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
View BVdb publication page



GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics
Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J
Publication Date: 2015-07-25

Variant appearance in text: KCNH2: R531Q
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 1
View BVdb publication page



Mechanistic basis for type 2 long QT syndrome caused by KCNH2 mutations that disrupt conserved arginine residues in the voltage sensor.

The Journal Of Membrane Biology
McBride, Christie M CM; Smith, Ashley M AM; Smith, Jennifer L JL; Reloj, Allison R AR; Velasco, Ellyn J EJ; Powell, Jonathan J; Elayi, Claude S CS; Bartos, Daniel C DC; Burgess, Don E DE; Delisle, Brian P BP
Publication Date: 2013-05

Variant appearance in text: LQT2: R531Q
PubMed Link: 23546015
Variant Present in the following documents:
  • Main text
View BVdb publication page



Transfer of rolf S3-S4 linker to HERG eliminates activation gating but spares inactivation.

Biophysical Journal
Choveau, Frank S FS; El Harchi, Aziza A; Rodriguez, Nicolas N; Louérat-Oriou, Bénédicte B; Baró, Isabelle I; Demolombe, Sophie S; Charpentier, Flavien F; Loussouarn, Gildas G
Publication Date: 2009-09-02

Variant appearance in text: KCNH2: R531Q
PubMed Link: 19720020
Variant Present in the following documents:
  • Main text
View BVdb publication page



Molecular basis of slow activation of the human ether-a-go-go related gene potassium channel.

The Journal Of Physiology
Subbiah, Rajesh N RN; Clarke, Catherine E CE; Smith, David J DJ; Zhao, JingTing J; Campbell, Terence J TJ; Vandenberg, Jamie I JI
Publication Date: 2004-07-15

Variant appearance in text: HERG: R531Q
PubMed Link: 15181157
Variant Present in the following documents:
  • Main text
View BVdb publication page