×
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
Malignant hyperthermia susceptibility type 1
0.700
GeneticVariation
UNIPROT
Mutation screening in the ryanodine receptor 1 gene (RYR1) in patients susceptible to malignant hyperthermia who show definite IVCT results: identification of three novel mutations.
12059893 2002
×
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
Malignant hyperthermia susceptibility type 1
0.700
GeneticVariation
UNIPROT
Several Ryanodine Receptor Type 1 Gene Mutations of p.Arg2508 Are Potential Sources of Malignant Hyperthermia.
26381711 2015
×
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
Malignant hyperthermia susceptibility type 1
0.700
GeneticVariation
UNIPROT
Functional characterization of the RYR1 mutation p.Arg4737Trp associated with susceptibility to malignant hyperthermia.
26631338 2016
×
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
Malignant hyperthermia susceptibility type 1
0.700
GeneticVariation
UNIPROT
Scanning for mutations of the ryanodine receptor (RYR1) gene by denaturing HPLC: detection of three novel malignant hyperthermia alleles.
12709367 2003
×
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
Malignant hyperthermia susceptibility type 1
0.700
GeneticVariation
UNIPROT
Identification of heterozygous and homozygous individuals with the novel RYR1 mutation Cys35Arg in a large kindred.
9066328 1997
×
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
Malignant hyperthermia susceptibility type 1
0.700
GeneticVariation
UNIPROT
Screening of the ryanodine receptor gene in 105 malignant hyperthermia families: novel mutations and concordance with the in vitro contracture test.
10484775 1999
×
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
Malignant hyperthermia susceptibility type 1
0.700
GeneticVariation
UNIPROT
North American malignant hyperthermia population: screening of the ryanodine receptor gene and identification of novel mutations.
11575529 2001
×
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
Malignant hyperthermia susceptibility type 1
0.700
GeneticVariation
UNIPROT
Mutations in the ryanodine receptor gene in central core disease and malignant hyperthermia.
8220423 1993
×
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
Malignant hyperthermia susceptibility type 1
0.700
GeneticVariation
UNIPROT
Correlations between genotype and pharmacological, histological, functional, and clinical phenotypes in malignant hyperthermia susceptibility.
16163667 2005
×
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
Malignant hyperthermia susceptibility type 1
0.700
GeneticVariation
UNIPROT
Multiminicore disease in a family susceptible to malignant hyperthermia: histology, in vitro contracture tests, and genetic characterization.
14732627 2004
×
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
Malignant hyperthermia susceptibility type 1
0.700
GeneticVariation
UNIPROT
Genotype-Phenotype Correlations of Malignant Hyperthermia and Central Core Disease Mutations in the Central Region of the RYR1 Channel.
27586648 2016
×
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
Malignant hyperthermia susceptibility type 1
0.700
GeneticVariation
UNIPROT
Polymorphisms and deduced amino acid substitutions in the coding sequence of the ryanodine receptor (RYR1) gene in individuals with malignant hyperthermia.
1354642 1992
×
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
Malignant hyperthermia susceptibility type 1
0.700
GeneticVariation
UNIPROT
Ryanodine receptor gene point mutation and malignant hyperthermia susceptibility.
7751854 1995
×
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
Malignant hyperthermia susceptibility type 1
0.700
GeneticVariation
UNIPROT
Novel mutations at a CpG dinucleotide in the ryanodine receptor in malignant hyperthermia.
9450902 1998
×
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
Malignant hyperthermia susceptibility type 1
0.700
GeneticVariation
UNIPROT
Detection of a novel mutation at amino acid position 614 in the ryanodine receptor in malignant hyperthermia.
9389851 1997
×
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
Malignant hyperthermia susceptibility type 1
0.700
GeneticVariation
UNIPROT
Novel skeletal muscle ryanodine receptor mutation in a large Brazilian family with malignant hyperthermia.
12123492 2002
×
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
Malignant hyperthermia susceptibility type 1
0.700
GeneticVariation
UNIPROT
Detection of a novel ryanodine receptor subtype 1 mutation (R328W) in a malignant hyperthermia family by sequencing of a leukocyte transcript.
12883402 2003
×
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
Malignant hyperthermia susceptibility type 1
0.700
GeneticVariation
UNIPROT
Ryanodine receptor type 1 gene variants in the malignant hyperthermia-susceptible population of the United States.
23558838 2013
×
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
Malignant hyperthermia susceptibility type 1
0.700
GeneticVariation
UNIPROT
Single-amino-acid deletion in the RYR1 gene, associated with malignant hyperthermia susceptibility and unusual contraction phenotype.
11389482 2001
×
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
Malignant hyperthermia susceptibility type 1
0.700
GeneticVariation
UNIPROT
Functional properties of RYR1 mutations identified in Swedish patients with malignant hyperthermia and central core disease.
20142353 2010
×
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
Malignant hyperthermia susceptibility type 1
0.700
GeneticVariation
UNIPROT
Mutation analysis of two patients with hypokalemic periodic paralysis and suspected malignant hyperthermia.
15221887 2004
×
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
Malignant hyperthermia susceptibility type 1
0.700
GeneticVariation
UNIPROT
Detection of a novel RYR1 mutation in four malignant hyperthermia pedigrees.
7849712 1994
×
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
Malignant hyperthermia susceptibility type 1
0.700
GeneticVariation
UNIPROT
RYR1 mutations in UK central core disease patients: more than just the C-terminal transmembrane region of the RYR1 gene.
14985404 2004
×
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
Malignant hyperthermia susceptibility type 1
0.700
GeneticVariation
UNIPROT
A substitution of cysteine for arginine 614 in the ryanodine receptor is potentially causative of human malignant hyperthermia.
1774074 1991
×
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
Malignant hyperthermia susceptibility type 1
0.700
GeneticVariation
UNIPROT
The substitution of Arg for Gly2433 in the human skeletal muscle ryanodine receptor is associated with malignant hyperthermia.
7881417 1994