rs199472936
|
|
Long Qt Syndrome 2
|
|
0.830 |
GeneticVariation
|
BEFREE |
Confocal analyses of cells expressing the trafficking-deficient LQT2 channel G601S showed that the microtubule-dependent ER compartment is the transitional ER.
|
23864605 |
2013 |
rs199472936
|
|
Long Qt Syndrome 2
|
|
0.830 |
GeneticVariation
|
BEFREE |
We found that the Y652C substitution, and to lesser extent the Y652S substitution, resulted in intragenic suppression of the class 2 LQT2 G601S phenotype; these substitutions increased Golgi processing of G601S channel proteins.
|
15851652 |
2005 |
rs199472936
|
|
Long Qt Syndrome 2
|
|
0.830 |
GeneticVariation
|
BEFREE |
Thapsigargin selectively rescues the trafficking defective LQT2 channels G601S and F805C.
|
12837749 |
2003 |
rs121912507
|
|
Long Qt Syndrome 2
|
|
0.820 |
GeneticVariation
|
BEFREE |
In female transgenic LQT2 rabbits (HERG-G628S, loss of IKr), hormone effects on QT/action potential duration (APD) were assessed (0.2-200 ng/L).
|
30938413 |
2019 |
rs121912507
|
|
Long Qt Syndrome 2
|
|
0.820 |
GeneticVariation
|
BEFREE |
In the present study, we investigated the functional consequences of the LQT2 mutation G628S in the hERG1b and hERG1a(USO) isoforms.
|
22876326 |
2012 |
rs121912504
|
|
Long Qt Syndrome 2
|
|
0.810 |
GeneticVariation
|
BEFREE |
We generated LQTS2-specific CMs (A561V missense mutation in KCNH2) from iPSCs using the virus-free reprogramming method.
|
24623279 |
2014 |
rs121912505
|
|
Long Qt Syndrome 2
|
|
0.810 |
GeneticVariation
|
BEFREE |
Here we show that the N470D LQT2 mutant protein is trafficking-deficient when expressed at 37 degrees C in HEK293 cells, whereas at 27 degrees C its trafficking to the plasma membrane and channel function are markedly improved.
|
10531299 |
1999 |
rs28928905
|
|
Long QT Syndrome
|
|
0.730 |
GeneticVariation
|
BEFREE |
Furthermore, in another LQTS family we found that KCNH2 mutation A490T co-segregated with a common SNP K897T in KCNH2.
|
18808722 |
2008 |
rs28928905
|
|
Long QT Syndrome
|
|
0.730 |
GeneticVariation
|
BEFREE |
A novel mutation in human ether-a-go-go-related gene, alanine to proline at position 490, found in a large family with autosomal dominant long QT syndrome.
|
17560885 |
2007 |
rs28928905
|
|
Long QT Syndrome
|
|
0.730 |
GeneticVariation
|
BEFREE |
We report a case of a novel HERG mutation (A490T) that caused a bradycardia-associated form of long QT syndrome.
|
11170080 |
2001 |
rs199472918
|
|
Long QT Syndrome
|
|
0.720 |
GeneticVariation
|
BEFREE |
Four presumable founder mutations (KCNQ1 G589D and IVS7-2A > G, HERG R176W and L552S) together account for as much as 73% of all established Finnish LQTS cases.
|
15176425 |
2004 |
rs199472918
|
|
Long QT Syndrome
|
|
0.720 |
GeneticVariation
|
BEFREE |
A novel missense mutation (L552S) in the HERG channel, present in the homozygous state in the affected siblings and in the heterozygous state in their parents, as well as in 38 additional subjects from six LQTS families, was identified.
|
10841244 |
2000 |
rs199473529
|
|
Long Qt Syndrome 2
|
|
0.720 |
GeneticVariation
|
BEFREE |
A similar temperature-dependent phenotype was seen for coexpression of the trafficking-deficient LQT-2 F640V mutation.
|
18551196 |
2008 |
rs199473529
|
|
Long Qt Syndrome 2
|
|
0.720 |
GeneticVariation
|
BEFREE |
The Y652C substitution also caused intragenic suppression of the class 2 LQT2 V612L and F640V phenotypes but not the LQT2 N470D or F805C phenotypes.
|
15851652 |
2005 |
rs28928904
|
|
Long QT Syndrome
|
|
0.720 |
GeneticVariation
|
BEFREE |
Long QT syndrome-associated I593R mutation in HERG potassium channel activates ER stress pathways.
|
16244363 |
2005 |
rs28928904
|
|
Long QT Syndrome
|
|
0.720 |
GeneticVariation
|
BEFREE |
The Ile593Arg mutation may result in a change in potassium selectivity and permeability leading to a loss of HERG function, thereby resulting in LQT.
|
8635257 |
1996 |
rs9333649
|
|
Long QT Syndrome
|
|
0.720 |
GeneticVariation
|
BEFREE |
Novel characteristics of a trafficking-defective G572R-hERG channel linked to hereditary long QT syndrome.
|
20931094 |
2010 |
rs9333649
|
|
Long QT Syndrome
|
|
0.720 |
GeneticVariation
|
BEFREE |
Long QT syndrome with a high mortality rate caused by a novel G572R missense mutation in KCNH2.
|
10735633 |
2000 |
rs121912504
|
|
Long QT Syndrome
|
|
0.710 |
GeneticVariation
|
BEFREE |
Screening in worms expressing hERG<sup>A561V</sup>, which carries a trafficking-defective mutation A561V known to associate with long-QT syndrome, identifies two functional correctors Prostratin and ingenol-3,20-dibenzoate.
|
30258187 |
2018 |
rs121912507
|
|
Long QT Syndrome
|
|
0.710 |
GeneticVariation
|
BEFREE |
Isoform-specific dominant-negative effects associated with hERG1 G628S mutation in long QT syndrome.
|
22876326 |
2012 |
rs121912512
|
|
Long QT Syndrome
|
|
0.710 |
GeneticVariation
|
BEFREE |
Direct bidirectional sequencing of long QT syndrome genes identified a previously unreported HERG missense mutation (R752Q).
|
12621127 |
2003 |
rs189014161
|
|
Long QT Syndrome
|
|
0.710 |
GeneticVariation
|
BEFREE |
Two of the 13 patients (15%) who presented with QT prolongation and TdP were found to carry long QT syndrome mutations (KCNH2-R744X and SCN5A-E446K).
|
22338672 |
2012 |
rs199472845
|
|
Long QT Syndrome
|
|
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 |
rs199472916
|
|
Long QT Syndrome
|
|
0.710 |
GeneticVariation
|
BEFREE |
In conclusion, CM-iPSC recapitulated the LQTS2 phenotype and our findings suggest that the R534C mutation in KCNH2 leads to a channel trafficking defect to the plasma membrane.
|
31844156 |
2019 |
rs199472924
|
|
Long QT Syndrome
|
|
0.710 |
GeneticVariation
|
BEFREE |
The distinct HERG missense mutation L564P causes long QT syndrome in one French Canadian family.
|
10744792 |
2000 |