|
rs397507556
|
|
|
0.710 |
GeneticVariation |
BEFREE |
They included a nonsense variant c.97C>T (p.R33*) and a missense variant c.748C>T (p.R250C) in Family 1 with three CPVT patients; two heterozygous frameshift variants, c.1074_1075delinsC (p.G359Afs*12) and c.1175_1178delACAG (p.D392Vfs*84), in Family 2 with one CPVT patient; one pathogenic homozygous variant c.98G>A (p.R33Q) of CASQ2 in the CPVT patient of Family 3; and two heterozygous splicing variants, (c.532+1G>A) and (c.838+1G>A), in Family 4 with one CPVT patient.
|
31482657 |
2019 |
|
rs397507556
|
|
A |
0.710 |
CausalMutation |
CLINVAR |
Absence of calsequestrin 2 causes severe forms of catecholaminergic polymorphic ventricular tachycardia.
|
12386154 |
2002 |
|
rs763955301
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
Functional analysis reveals splicing mutations of the CASQ2 gene in patients with CPVT: implication for genetic counselling and clinical management.
|
21618644 |
2011 |
|
rs763955301
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
Incidence and risk factors of arrhythmic events in catecholaminergic polymorphic ventricular tachycardia.
|
19398665 |
2009 |
|
rs1060502164
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
Absence of calsequestrin 2 causes severe forms of catecholaminergic polymorphic ventricular tachycardia.
|
12386154 |
2002 |
|
rs397516643
|
|
GT |
0.700 |
GeneticVariation |
CLINVAR |
Absence of calsequestrin 2 causes severe forms of catecholaminergic polymorphic ventricular tachycardia.
|
12386154 |
2002 |
|
rs121434549
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs139228801
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs397507555
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs876657635
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
|
rs749547712
|
|
|
0.050 |
GeneticVariation |
BEFREE |
They included a nonsense variant c.97C>T (p.R33*) and a missense variant c.748C>T (p.R250C) in Family 1 with three CPVT patients; two heterozygous frameshift variants, c.1074_1075delinsC (p.G359Afs*12) and c.1175_1178delACAG (p.D392Vfs*84), in Family 2 with one CPVT patient; one pathogenic homozygous variant c.98G>A (p.R33Q) of CASQ2 in the CPVT patient of Family 3; and two heterozygous splicing variants, (c.532+1G>A) and (c.838+1G>A), in Family 4 with one CPVT patient.
|
31482657 |
2019 |
|
rs749547712
|
|
|
0.050 |
GeneticVariation |
BEFREE |
To that end, we have designed a CaM protein (GSH-M37Q; dubbed as therapeutic CaM or T-CaM) that exhibited a slowed N-terminal Ca dissociation rate and prolonged RyR2 refractoriness in permeabilized myocytes derived from CPVT mice carrying the CASQ2 mutation R33Q.
|
29720499 |
2018 |
|
rs749547712
|
|
|
0.050 |
GeneticVariation |
BEFREE |
This study provides new mechanistic insight into the functional effects of the R33Q mutation and its potential role in CPVT.
|
20353949 |
2010 |
|
rs749547712
|
|
|
0.050 |
GeneticVariation |
BEFREE |
Two missense mutations, R33Q and L167H, of hCASQ2 (human cardiac calsequestrin), a protein segregated to the lumen of the sarcoplasmic reticulum, are linked to the autosomal recessive form of CPVT (catecholaminergic polymorphic ventricular tachycardia).
|
18399795 |
2008 |
|
rs749547712
|
|
|
0.050 |
GeneticVariation |
BEFREE |
To better understand how CASQ2 mutants cause CPVT, we expressed two CPVT-linked CASQ2 mutants, a truncated protein (at G112+5X, CASQ2(DEL)) or CASQ2 containing a point mutation (CASQ2(R33Q)), in canine ventricular myocytes and assessed their effects on Ca handling.
|
18469084 |
2008 |
|
rs121434550
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Two missense mutations, R33Q and L167H, of hCASQ2 (human cardiac calsequestrin), a protein segregated to the lumen of the sarcoplasmic reticulum, are linked to the autosomal recessive form of CPVT (catecholaminergic polymorphic ventricular tachycardia).
|
18399795 |
2008 |
|
rs121434550
|
|
|
0.020 |
GeneticVariation |
BEFREE |
The same deletion was also identified in association with a novel point mutation (CASQ2(L167H)) in a highly symptomatic CPVT child who is the first CPVT patient carrier of compound heterozygous CASQ2 mutations.
|
16908766 |
2006 |
|
rs151115064
|
|
|
0.010 |
GeneticVariation |
BEFREE |
They included a nonsense variant c.97C>T (p.R33*) and a missense variant c.748C>T (p.R250C) in Family 1 with three CPVT patients; two heterozygous frameshift variants, c.1074_1075delinsC (p.G359Afs*12) and c.1175_1178delACAG (p.D392Vfs*84), in Family 2 with one CPVT patient; one pathogenic homozygous variant c.98G>A (p.R33Q) of CASQ2 in the CPVT patient of Family 3; and two heterozygous splicing variants, (c.532+1G>A) and (c.838+1G>A), in Family 4 with one CPVT patient.
|
31482657 |
2019 |
|
rs886039816
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Induced pluripotent stem cells were generated from the whole blood of a 40-year-old woman with severe CPVT who is heterozygous for the p.Lys180Arg CASQ2 mutation.
|
31039485 |
2019 |
|
rs146664754
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Post-mortem molecular testing demonstrated this man to be heterozygous for a catecholaminergic polymorphic ventricular tachycardia (CPVT) associated mutation (Phe189Leu) in the calsequestrin 2 (CASQ2) gene.
|
26671417 |
2016 |