|
rs146876145
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Mutations in the RYR1 gene in Italian patients at risk for malignant hyperthermia: evidence for a cluster of novel mutations in the C-terminal region.
|
12208234 |
2002 |
|
rs146876145
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Presence of two different genetic traits in malignant hyperthermia families: implication for genetic analysis, diagnosis, and incidence of malignant hyperthermia susceptibility.
|
12411788 |
2002 |
|
rs193922764
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Malignant hyperthermia associated with exercise-induced rhabdomyolysis or congenital abnormalities and a novel RYR1 mutation in New Zealand and Australian pedigrees.
|
12066726 |
2002 |
|
rs193922764
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Mutations in the RYR1 gene in Italian patients at risk for malignant hyperthermia: evidence for a cluster of novel mutations in the C-terminal region.
|
12208234 |
2002 |
|
rs193922764
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
[Current aspects of the diagnosis of malignant hyperthermia].
|
12434264 |
2002 |
|
rs1057518885
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
|
rs193922781
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs118192172
|
|
|
0.090 |
GeneticVariation |
BEFREE |
Genetic screening for MH-related mutations in the RYR1 gene revealed the presence of a homozygous 1840C-->T base exchange (Arg614Cys substitution) in this patient.
|
11493496 |
2001 |
|
rs118192172
|
|
|
0.090 |
GeneticVariation |
BEFREE |
Despite inclusion of only one (Arg614Cys) of all known MH mutations, the study emphasizes the practical use of a genetic approach for determination of a positive MH diagnosis.
|
11553045 |
2001 |
|
rs118192172
|
|
|
0.090 |
GeneticVariation |
BEFREE |
Screening for these 21 mutations in 105 MH families including 10 CCD families phenotyped by the in vitro contracture test (IVCT) according to the European protocol revealed the following approximate distribution: 9% Arg-614-Cys, 1% Arg-614-Leu, 1% Arg-2163-Cys, 1% Val-2168-Met, 3% Thr-2206-Met and 7% Gly-2434-Arg.
|
10484775 |
1999 |
|
rs118192172
|
|
|
0.090 |
GeneticVariation |
BEFREE |
These findings may suggest that it is necessary to reconsider the specificity of the IVCT and the role of C1840T as a cause of MH susceptibility in some families exhibiting this mutation.
|
9520251 |
1997 |
|
rs118192172
|
|
|
0.090 |
GeneticVariation |
BEFREE |
Because there is strong evidence supporting the causal nature of the Arg614Cys mutation, the discordant persons are not closely related within the pedigree as they would be if a second MH mutation were segregating, and the CHCT is not 100% accurate, we propose that the observed discordance between DNA test results and CHCT assignment in this kindred results from two false-positive diagnoses by the CHCT.
|
8602662 |
1996 |
|
rs118192172
|
|
|
0.090 |
GeneticVariation |
BEFREE |
The frequencies of occurrence of the C1840T and C487T mutations were 2% and 1%, respectively, in MH-positive subjects and were the only two mutations identified.
|
7547049 |
1995 |
|
rs118192172
|
|
|
0.090 |
GeneticVariation |
BEFREE |
A cysteine-for-arginine substitution (R614C) in the human skeletal muscle calcium release channel cosegregates with malignant hyperthermia.
|
1510267 |
1992 |
|
rs118192172
|
|
|
0.090 |
GeneticVariation |
BEFREE |
Several observations support the view that a single RYR1 mutation is causal of malignant hyperthermia in all breeds of pigs and in at least some human families: the substitution of Cys for Arg615 as the sole deduced amino acid sequence change in a comparison of malignant hyperthermia and normal porcine RYR1 cDNAs; the linkage of this mutation to malignant hyperthermia in over 450 pigs in six breeds, including 338 meioses; and the appearance of the corresponding mutation, Cys for Arg614, across a species barrier, in a few human families, where it also cosegregates with malignant hyperthermia.
|
1329295 |
1992 |
|
rs118192172
|
|
|
0.090 |
GeneticVariation |
BEFREE |
A substitution of cysteine for arginine 614 in the ryanodine receptor is potentially causative of human malignant hyperthermia.
|
1774074 |
1991 |
|
rs121918593
|
|
|
0.070 |
GeneticVariation |
BEFREE |
The human p.G2434R variant of the RYR1 gene is most frequently associated with malignant hyperthermia (MH) in the UK.
|
30236258 |
2018 |
|
rs121918593
|
|
|
0.070 |
GeneticVariation |
BEFREE |
We identified 9 heterozygous RYR1 mutations/variants in 14 families, 5 of them (p.Lys1393Arg; p.Gly2434Arg; p.Thr4288_Ala4290dup; p.Ala4295Val; and p.Arg4737Gln) previously associated with MH.
|
23628358 |
2013 |
|
rs121918593
|
|
|
0.070 |
GeneticVariation |
BEFREE |
Furthermore we identify a high-risk cluster of haplotypes that is associated with the commonest UK MH mutation p.G2434R/c.7300G>A.
|
18945287 |
2009 |
|
rs121918593
|
|
|
0.070 |
GeneticVariation |
BEFREE |
One MH mutation (Gly2434Arg) was found in one MHS individual.
|
15281512 |
2004 |
|
rs121918593
|
|
|
0.070 |
GeneticVariation |
BEFREE |
In the first extensive UK population survey, eight of 15 mutations were detected in 85 out of 297 (29%) unrelated MH susceptible cases, with G2434R detected in 53 cases (18%).
|
12124989 |
2002 |
|
rs121918593
|
|
|
0.070 |
GeneticVariation |
BEFREE |
Malignant hyperthermia causing Gly2435Arg mutation of the ryanodine receptor facilitates ryanodine-induced calcium release in myotubes.
|
10700782 |
1999 |
|
rs121918593
|
|
|
0.070 |
GeneticVariation |
BEFREE |
The substitution of Arg for Gly2433 in the human skeletal muscle ryanodine receptor is associated with malignant hyperthermia.
|
7881417 |
1994 |
|
rs118192162
|
|
|
0.060 |
GeneticVariation |
BEFREE |
Mice (Y522S or YS), carrying a mutation of the sarcoplasmic reticulum (SR) Ca<sup>2+</sup> release channel of skeletal muscle fibers (ryanodine receptor type-1, RyR1) which causes Ca<sup>2+</sup> leak, are a widely accepted and intensively studied model for human malignant hyperthermia (MH) susceptibility.
|
31607937 |
2019 |
|
rs118192162
|
|
|
0.060 |
GeneticVariation |
BEFREE |
We confirmed the in vivo significance by using mice with a knock-in mutation (Y524S) in the type I ryanodine receptor (Ryr1), a mutation analogous to the Y522S mutation associated with MH in humans.
|
29930394 |
2019 |