rs199472795
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
PIP₂-dependent coupling is prominent in Kv7.1 due to weakened interactions between S4-S5 and S6.
|
25559286 |
2015 |
rs199472795
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
A long QT mutation substitutes cholesterol for phosphatidylinositol-4,5-bisphosphate in KCNQ1 channel regulation.
|
24681627 |
2014 |
rs199472795
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
Results of genetic testing in 855 consecutive unrelated patients referred for long QT syndrome in a clinical laboratory.
|
23631430 |
2013 |
rs199472795
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
Hexachlorophene is a potent KCNQ1/KCNE1 potassium channel activator which rescues LQTs mutants.
|
23251633 |
2012 |
rs199472795
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
Founder mutations characterise the mutation panorama in 200 Swedish index cases referred for Long QT syndrome genetic testing.
|
23098067 |
2012 |
rs199472795
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
KCNE1 enhances phosphatidylinositol 4,5-bisphosphate (PIP2) sensitivity of IKs to modulate channel activity.
|
21576493 |
2011 |
rs199472795
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
KCNQ1 assembly and function is blocked by long-QT syndrome mutations that disrupt interaction with calmodulin.
|
16556866 |
2006 |
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 |
rs199472795
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
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 |
rs199472795
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing.
|
15840476 |
2005 |
rs199472795
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
Location of mutation in the KCNQ1 and phenotypic presentation of long QT syndrome.
|
14678125 |
2003 |
rs199472795
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
Characterization and subcellular localization of KCNQ1 with a heterozygous mutation in the C terminus.
|
11162126 |
2001 |
rs199472795
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
Novel mutations in KvLQT1 that affect Iks activation through interactions with Isk.
|
10728423 |
2000 |