|
rs104893714
|
CAV3;SSUH2
|
LONG QT SYNDROME 9 (disorder)
|
|
0.820 |
GeneticVariation |
BEFREE |
Here, we determine the effect of long-QT syndrome-9-<i>CAV3</i> mutation F97C on Kir2.x homo- and heterotetramers and model-associated arrhythmia mechanisms.
|
29326130 |
2018 |
|
rs104893714
|
CAV3;SSUH2
|
LONG QT SYNDROME 9 (disorder)
|
|
0.820 |
GeneticVariation |
BEFREE |
HEK-293 cells expressing SCN5A and LQT9 mutation Cav3-F97C resulted in a 2-fold increase in late INa compared to Cav3-WT.
|
23541953 |
2013 |
|
rs104893714
|
CAV3;SSUH2
|
LONG QT SYNDROME 9 (disorder)
|
|
0.820 |
GeneticVariation |
UNIPROT |
Novel mechanism for sudden infant death syndrome: persistent late sodium current secondary to mutations in caveolin-3.
|
17275750 |
2007 |
|
rs104893714
|
CAV3;SSUH2
|
LONG QT SYNDROME 9 (disorder)
|
|
0.820 |
GeneticVariation |
UNIPROT |
Mutant caveolin-3 induces persistent late sodium current and is associated with long-QT syndrome.
|
17060380 |
2006 |
|
rs104893714
|
CAV3;SSUH2
|
LONG QT SYNDROME 9 (disorder)
|
G |
0.820 |
SusceptibilityMutation |
CLINVAR |
|
|
|
|
rs116840778
|
CAV3;SSUH2
|
RIPPLING MUSCLE DISEASE 2 (disorder)
|
A |
0.800 |
CausalMutation |
CLINVAR |
Rippling is not always electrically silent in rippling muscle disease.
|
21404291 |
2011 |
|
rs116840778
|
CAV3;SSUH2
|
RIPPLING MUSCLE DISEASE 2 (disorder)
|
A |
0.800 |
CausalMutation |
CLINVAR |
Differential effects of myopathy-associated caveolin-3 mutants on growth factor signaling.
|
20472890 |
2010 |
|
rs116840778
|
CAV3;SSUH2
|
RIPPLING MUSCLE DISEASE 2 (disorder)
|
A |
0.800 |
CausalMutation |
CLINVAR |
Membrane repair defects in muscular dystrophy are linked to altered interaction between MG53, caveolin-3, and dysferlin.
|
19380584 |
2009 |
|
rs116840778
|
CAV3;SSUH2
|
RIPPLING MUSCLE DISEASE 2 (disorder)
|
A |
0.800 |
CausalMutation |
CLINVAR |
Phenotypic variability in a Spanish family with a Caveolin-3 mutation.
|
18930476 |
2009 |
|
rs104893713
|
CAV3;SSUH2
|
LONG QT SYNDROME 9 (disorder)
|
|
0.800 |
GeneticVariation |
UNIPROT |
Novel mechanism for sudden infant death syndrome: persistent late sodium current secondary to mutations in caveolin-3.
|
17275750 |
2007 |
|
rs104893715
|
CAV3;SSUH2
|
LONG QT SYNDROME 9 (disorder)
|
|
0.800 |
GeneticVariation |
UNIPROT |
Novel mechanism for sudden infant death syndrome: persistent late sodium current secondary to mutations in caveolin-3.
|
17275750 |
2007 |
|
rs121909282
|
CAV3;SSUH2
|
LONG QT SYNDROME 9 (disorder)
|
|
0.800 |
GeneticVariation |
UNIPROT |
Novel mechanism for sudden infant death syndrome: persistent late sodium current secondary to mutations in caveolin-3.
|
17275750 |
2007 |
|
rs104893713
|
CAV3;SSUH2
|
LONG QT SYNDROME 9 (disorder)
|
|
0.800 |
GeneticVariation |
UNIPROT |
Mutant caveolin-3 induces persistent late sodium current and is associated with long-QT syndrome.
|
17060380 |
2006 |
|
rs104893715
|
CAV3;SSUH2
|
LONG QT SYNDROME 9 (disorder)
|
|
0.800 |
GeneticVariation |
UNIPROT |
Mutant caveolin-3 induces persistent late sodium current and is associated with long-QT syndrome.
|
17060380 |
2006 |
|
rs116840805
|
CAV3;SSUH2
|
RIPPLING MUSCLE DISEASE 2 (disorder)
|
|
0.800 |
GeneticVariation |
UNIPROT |
A new missense mutation in caveolin-3 gene causes rippling muscle disease.
|
16458928 |
2006 |
|
rs121909282
|
CAV3;SSUH2
|
LONG QT SYNDROME 9 (disorder)
|
|
0.800 |
GeneticVariation |
UNIPROT |
Mutant caveolin-3 induces persistent late sodium current and is associated with long-QT syndrome.
|
17060380 |
2006 |
|
rs116840778
|
CAV3;SSUH2
|
RIPPLING MUSCLE DISEASE 2 (disorder)
|
A |
0.800 |
CausalMutation |
CLINVAR |
Molecular and muscle pathology in a series of caveolinopathy patients.
|
15580566 |
2005 |
|
rs116840805
|
CAV3;SSUH2
|
RIPPLING MUSCLE DISEASE 2 (disorder)
|
|
0.800 |
GeneticVariation |
UNIPROT |
Autosomal recessive rippling muscle disease with homozygous CAV3 mutations.
|
15668980 |
2005 |
|
rs116840805
|
CAV3;SSUH2
|
RIPPLING MUSCLE DISEASE 2 (disorder)
|
|
0.800 |
GeneticVariation |
UNIPROT |
Molecular and muscle pathology in a series of caveolinopathy patients.
|
15580566 |
2005 |
|
rs116840778
|
CAV3;SSUH2
|
RIPPLING MUSCLE DISEASE 2 (disorder)
|
A |
0.800 |
CausalMutation |
CLINVAR |
Phenotypic variability associated with Arg26Gln mutation in caveolin3.
|
15318349 |
2004 |
|
rs116840805
|
CAV3;SSUH2
|
RIPPLING MUSCLE DISEASE 2 (disorder)
|
|
0.800 |
GeneticVariation |
UNIPROT |
Two novel CAV3 gene mutations in Japanese families.
|
15564037 |
2004 |
|
rs116840778
|
CAV3;SSUH2
|
RIPPLING MUSCLE DISEASE 2 (disorder)
|
A |
0.800 |
CausalMutation |
CLINVAR |
Phenotypic behavior of caveolin-3 R26Q, a mutant associated with hyperCKemia, distal myopathy, and rippling muscle disease.
|
12839838 |
2003 |
|
rs116840778
|
CAV3;SSUH2
|
RIPPLING MUSCLE DISEASE 2 (disorder)
|
A |
0.800 |
CausalMutation |
CLINVAR |
Limb-girdle muscular dystrophy in a 71-year-old woman with an R27Q mutation in the CAV3 gene.
|
12939441 |
2003 |
|
rs116840778
|
CAV3;SSUH2
|
RIPPLING MUSCLE DISEASE 2 (disorder)
|
A |
0.800 |
CausalMutation |
CLINVAR |
Caveolin-3 gene mutation in Japanese with rippling muscle disease.
|
12807393 |
2003 |
|
rs116840778
|
CAV3;SSUH2
|
RIPPLING MUSCLE DISEASE 2 (disorder)
|
A |
0.800 |
CausalMutation |
CLINVAR |
Phosphofructokinase muscle-specific isoform requires caveolin-3 expression for plasma membrane recruitment and caveolar targeting: implications for the pathogenesis of caveolin-related muscle diseases.
|
14633633 |
2003 |