|
rs186983396
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Genetic and functional analysis of the RYR1 mutation p.Thr84Met revealed a susceptibility to malignant hyperthermia.
|
29344738 |
2018 |
|
rs193922867
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Hence, the functional properties of the RYR1 mutation p.Arg4737Trp are consistent with susceptibility to MH.
|
26631338 |
2016 |
|
rs118192168
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Phenotype-genotype correlation analysis indicates that the presence of the triplet allele alone confers susceptibility to MH, and that the presence of this allele in a compound heterozygous state with the MH-associated RYR1 variant c.14545G>A (p.Val4849Ile) results in the MH susceptibility phenotype and a congenital myopathy with cores and rods.
|
25958340 |
2015 |
|
rs1447246862
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Phenotype-genotype correlation analysis indicates that the presence of the triplet allele alone confers susceptibility to MH, and that the presence of this allele in a compound heterozygous state with the MH-associated RYR1 variant c.14545G>A (p.Val4849Ile) results in the MH susceptibility phenotype and a congenital myopathy with cores and rods.
|
25958340 |
2015 |
|
rs772288551
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We propose that R2355W is confirmed as being an MH-causative mutation and suggest that V2354M is a RYR1 mutation likely to cause MH.
|
24361844 |
2014 |
|
rs1263187768
|
|
|
0.010 |
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 |
|
rs193922855
|
|
|
0.010 |
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 |
|
rs193922868
|
|
|
0.010 |
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 |
|
rs118204421
|
|
|
0.010 |
GeneticVariation |
BEFREE |
While p.R2458H and p.R2458H/p.R3348C segregated with an MH-susceptible diagnosis, p.R3348C alone showed an MH equivocal diagnosis.
|
22415532 |
2012 |
|
rs118204423
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The variant p.A612P in family A segregated with an MH-susceptible phenotype and cells showed an increased sensitivity for all Ca(2+)-releasing substances tested.
|
22415532 |
2012 |
|
rs121918594
|
|
|
0.010 |
GeneticVariation |
BEFREE |
While p.R2458H and p.R2458H/p.R3348C segregated with an MH-susceptible diagnosis, p.R3348C alone showed an MH equivocal diagnosis.
|
22415532 |
2012 |
|
rs148399313
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In two families, the known mutation p.R3903Q was also observed in malignant hyperthermia-nonsusceptible (MHN) individuals.
|
20681998 |
2011 |
|
rs193922888
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The hypersensitive Ala4894Thr-RyR1 is associated with MH and the poorly functional Ala4894Pro-RyR1 with CNMDU1.
|
21926372 |
2011 |
|
rs193922860
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The R4645Q mutation has previously been reported in MH patients, but five heterozygous mutations were also found in 400 Japanese control alleles.
|
19931341 |
2010 |
|
rs118204422
|
|
|
0.010 |
GeneticVariation |
BEFREE |
These data document a role of the new W3985R variant in MH susceptibility.
|
18719443 |
2008 |
|
rs118192170
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Cytosolic and mitochondrial Ca(2+) transients induced by caffeine stimulation were drastically augmented in the MH mutant, slightly reduced in one CCD mutant (Y523S) and completely abolished in another (I4898T).
|
15689621 |
2005 |
|
rs118192167
|
|
|
0.010 |
GeneticVariation |
BEFREE |
However, maximal VGCR was reduced only for MH + CCD mutants (Y4795C, R2435L, and R2163H) in which spontaneous Ca2+ oscillations occurred with significantly longer duration (Y4795C and R2435L) or higher frequency (R2163H).
|
15347586 |
2004 |
|
rs147213895
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Detection of the same mutation in three independent MH families suggested that 7025A>G represents a novel MH-susceptibility allele and that MH and HypoPP occurred independently in the case presented.
|
15221887 |
2004 |
|
rs118192123
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The reduction of EC(50) indicates a facilitated calcium release from sarcoplasmic reticulum in the myotubes of the index patient suggesting that the RYR1 Ile2453Thr mutation is pathogenic for the malignant hyperthermia susceptibility and CCD of the two affected individuals.
|
12810058 |
2003 |
|
rs193922762
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A novel arginine 328 to tryptophan mutation in RYR1 was detected by direct sequencing of the RYR1 transcript from leukocytes of one MH-susceptible individual.
|
12883402 |
2003 |
|
rs193922790
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The RyR1 Ile2182Phe mutation and the RyR1 Gly2375Ala mutation have been identified in individuals susceptible to MH.
|
14641996 |
2003 |
|
rs193922802
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In a multigenerational North American family with a severe form of malignant hyperthermia that has caused four deaths, a novel RYR1 A2350T missense mutation was identified in all individuals testing positive for malignant hyperthermia susceptibility.
|
11525881 |
2001 |
|
rs1309417886
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In this study, we analyzed the A3333G mutation in 5 unrelated patients affected by CCD and 31 MH-susceptible relatives (from 19 MH families) and did not find this mutation in any of them.
|
11216663 |
2000 |
|
rs1801086
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Of 45 families tested, a single family presented the Arg for Gly248 substitution where it segregated with malignant hyperthermia, making it a candidate mutation for predisposition to MH in man.
|
1354642 |
1992 |
|
rs118192178
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Although p.Arg2508 of RYR1 is located outside hotspots, several mutations or variants (including the known MH causative mutation p.Arg2508Cys) have been identified in this region.
|
26381711 |
2015 |