|
rs199472918
|
|
|
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 |
|
rs199472918
|
|
|
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 |
|
rs28928904
|
|
|
0.720 |
GeneticVariation |
BEFREE |
Long QT syndrome-associated I593R mutation in HERG potassium channel activates ER stress pathways.
|
16244363 |
2005 |
|
rs28928904
|
|
|
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
|
|
|
0.720 |
GeneticVariation |
BEFREE |
Novel characteristics of a trafficking-defective G572R-hERG channel linked to hereditary long QT syndrome.
|
20931094 |
2010 |
|
rs9333649
|
|
|
0.720 |
GeneticVariation |
BEFREE |
Long QT syndrome with a high mortality rate caused by a novel G572R missense mutation in KCNH2.
|
10735633 |
2000 |
|
rs1064795333
|
|
|
0.710 |
GeneticVariation |
BEFREE |
Mutations in Danish patients with long QT syndrome and the identification of a large founder family with p.F29L in KCNH2.
|
24606995 |
2014 |
|
rs120074179
|
|
|
0.710 |
GeneticVariation |
BEFREE |
The second mutation, V254M in KCNQ1, co-segregated with higher QT intervals and symptoms in other family members, and was previously reported in another LQTS family.
|
12820704 |
2003 |
|
rs120074184
|
|
|
0.710 |
GeneticVariation |
BEFREE |
G314S, co-expressed with WT KCNQ1 and KCNE1, suppressed I(ks) currents in a dominant-negative manner, which is consistent with long QT syndrome in the members of the Chinese family carrying G314S KCNQ1 mutation.
|
19348785 |
2009 |
|
rs120074185
|
|
|
0.710 |
GeneticVariation |
BEFREE |
In the present study, we show that PIP2 affinity is reduced in three KCNQ1 mutant channels (R243H, R539W, and R555C) associated with the long QT syndrome.
|
15746441 |
2005 |
|
rs121912504
|
|
|
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
|
|
|
0.710 |
GeneticVariation |
BEFREE |
Isoform-specific dominant-negative effects associated with hERG1 G628S mutation in long QT syndrome.
|
22876326 |
2012 |
|
rs121912512
|
|
|
0.710 |
GeneticVariation |
BEFREE |
Direct bidirectional sequencing of long QT syndrome genes identified a previously unreported HERG missense mutation (R752Q).
|
12621127 |
2003 |
|
rs189014161
|
|
|
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 |
|
rs193922365
|
|
|
0.710 |
GeneticVariation |
BEFREE |
The mutations A46T, R195W, and A302V have previously been associated with long-QT syndrome.
|
25786344 |
2015 |
|
rs199472730
|
|
|
0.710 |
GeneticVariation |
BEFREE |
The inconsistent association of the KCNQ1 S277L mutation with the clinical presentation suggests that additional genetic, epigenetic, or environmental factors play a role in defining the individual clinical LQTS phenotype.
|
21241800 |
2011 |
|
rs199472756
|
|
|
0.710 |
GeneticVariation |
BEFREE |
The present study was designed to determine the G325R ion channel phenotype and its association with the clinical LQTS presentation.
|
23000022 |
2012 |
|
rs199472765
|
|
|
0.710 |
GeneticVariation |
BEFREE |
Ion channel mechanisms related to sudden cardiac death in phenotype-negative long-QT syndrome genotype-phenotype correlations of the KCNQ1(S349W) mutation.
|
20662986 |
2011 |
|
rs199472776
|
|
|
0.710 |
GeneticVariation |
BEFREE |
Both KV7.1-A283T (16-week male) and KV7.1-R397W (16-week female) mutations were associated with marked KV7.1 loss-of-function consistent with in utero LQTS type 1, whereas the HERG1b-R25W mutation (33.2-week male) exhibited a loss of function consistent with in utero LQTS type 2.
|
23571586 |
2013 |
|
rs199472795
|
|
|
0.710 |
GeneticVariation |
BEFREE |
In the present study, we show that PIP2 affinity is reduced in three KCNQ1 mutant channels (R243H, R539W, and R555C) associated with the long QT syndrome.
|
15746441 |
2005 |
|
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 |
|
rs199472916
|
|
|
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
|
|
|
0.710 |
GeneticVariation |
BEFREE |
The distinct HERG missense mutation L564P causes long QT syndrome in one French Canadian family.
|
10744792 |
2000 |
|
rs199472942
|
|
|
0.710 |
GeneticVariation |
BEFREE |
Compound heterozygosity for mutations Asp611-->Tyr in KCNQ1 and Asp609-->Gly in KCNH2 associated with severe long QT syndrome.
|
15500450 |
2005 |
|
rs199472968
|
|
|
0.710 |
GeneticVariation |
BEFREE |
Characterization of a novel missense mutation E637K in the pore-S6 loop of HERG in a patient with long QT syndrome.
|
12062363 |
2002 |