|
rs118192177
|
|
|
0.720 |
GeneticVariation |
BEFREE |
In this study we could demonstrate that the MH causative Thr2206Met mutation may also be associated both with clinical symptoms of a mild myopathy and histopathological changes in the oxidative inter myofibrillar network.
|
19919814 |
2010 |
|
rs118192177
|
|
|
0.720 |
GeneticVariation |
BEFREE |
From the reduction of EC(50) we conclude that the RyR1 Thr2206Met mutation is pathogenic for MH.
|
12220451 |
2002 |
|
rs1057518885
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
|
rs146876145
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Correlations between genotype and pharmacological, histological, functional, and clinical phenotypes in malignant hyperthermia susceptibility.
|
16163667 |
2005 |
|
rs146876145
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Actionable exomic incidental findings in 6503 participants: challenges of variant classification.
|
25637381 |
2015 |
|
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 |
Centronuclear myopathies: genotype-phenotype correlation and frequency of defined genetic forms in an Italian cohort.
|
25957634 |
2015 |
|
rs146876145
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Ryanodine receptor type 1 gene variants in the malignant hyperthermia-susceptible population of the United States.
|
23558838 |
2013 |
|
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 |
Genotype-phenotype correlations in recessive RYR1-related myopathies.
|
23919265 |
2013 |
|
rs193922764
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Skeletal muscle ryanodine receptor mutations associated with malignant hyperthermia showed enhanced intensity and sensitivity to triggering drugs when expressed in human embryonic kidney cells.
|
23459219 |
2013 |
|
rs193922764
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Adult onset multi/minicore myopathy associated with a mutation in the RYR1 gene.
|
14999498 |
2004 |
|
rs193922764
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Functional and genetic characterization of clinical malignant hyperthermia crises: a multi-centre study.
|
24433488 |
2014 |
|
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 |
|
rs193922764
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Analysis of the entire ryanodine receptor type 1 and alpha 1 subunit of the dihydropyridine receptor (CACNA1S) coding regions for variants associated with malignant hyperthermia in Australian families.
|
25735680 |
2015 |
|
rs193922764
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Identification of genetic mutations in Australian malignant hyperthermia families using sequencing of RYR1 hotspots.
|
18564801 |
2008 |
|
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 |
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 |
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 |
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 |
A substitution of cysteine for arginine 614 in the ryanodine receptor is potentially causative of human malignant hyperthermia.
|
1774074 |
1991 |
|
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 |
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 |