|
rs199472845
|
|
T |
0.710 |
GeneticVariation |
CLINVAR |
Sequence of gating charge movement and pore gating in HERG activation and deactivation pathways.
|
25809256 |
2015 |
|
rs199472845
|
|
T |
0.710 |
GeneticVariation |
CLINVAR |
Eag Domains Regulate LQT Mutant hERG Channels in Human Induced Pluripotent Stem Cell-Derived Cardiomyocytes.
|
25923442 |
2015 |
|
rs199472845
|
|
T |
0.710 |
GeneticVariation |
CLINVAR |
Concerted all-or-none subunit interactions mediate slow deactivation of human ether-à-go-go-related gene K+ channels.
|
25008322 |
2014 |
|
rs199472845
|
|
T |
0.710 |
GeneticVariation |
CLINVAR |
Molecular determinants of human ether-à-go-go-related gene 1 (hERG1) K+ channel activation by NS1643.
|
20876384 |
2011 |
|
rs199472845
|
|
T |
0.710 |
GeneticVariation |
CLINVAR |
Rescue of aberrant gating by a genetically encoded PAS (Per-Arnt-Sim) domain in several long QT syndrome mutant human ether-á-go-go-related gene potassium channels.
|
21536673 |
2011 |
|
rs199472845
|
|
|
0.710 |
GeneticVariation |
BEFREE |
The eag domains with Y43A or R56Q (a LQTS locus) mutations showed less regulation of deactivation and less FRET, whereas eag domains restored regulation of deactivation gating to full-length Y43A or R56Q channels and showed FRET.
|
19651618 |
2009 |
|
rs199472845
|
|
T |
0.710 |
GeneticVariation |
CLINVAR |
We studied wild-type and/or type 2 long-QT syndrome-associated mutant (R56Q) HERG current (I(HERG)) in HEK-293 cells, at both 23 and 36 degrees C. Conventional voltage-clamp analysis revealed mutation-induced changes in channel kinetics.
|
15475579 |
2005 |
|
rs199472845
|
|
T |
0.710 |
GeneticVariation |
CLINVAR |
Increased risk of arrhythmic events in long-QT syndrome with mutations in the pore region of the human ether-a-go-go-related gene potassium channel.
|
11854117 |
2002 |
|
rs199472845
|
|
T |
0.710 |
GeneticVariation |
CLINVAR |
Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2.
|
10973849 |
2000 |
|
rs199472845
|
|
T |
0.710 |
GeneticVariation |
CLINVAR |
In this study, we used the oocyte expression system and voltage clamp techniques to determine the functional consequences of eight long QT syndrome-associated mutations located in the amino-terminal region of HERG (F29L, N33T, G53R, R56Q, C66G, H70R, A78P, and L86R).
|
10187793 |
1999 |