| Geno
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Mag
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Summary
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| (C;C)
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0
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common in complete genomics
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| (C;T)
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3
|
susceptibility to malignant hyperthermia
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rs118192172, aka p.Arg614Cys or p.R614C, is a SNP in the RYR1 gene leading to increased susceptibility to malignant hyperthermia when heterozygous. Note, however, that although this mutation is listed in OMIM plus at least two consensus lists of causative mutations for MH, there is a report [1] of a 62 year old female carrying this variant who had "no family or personal history of MH, despite having surgery with general anesthesia thrice".
[PMID 75] Characteristics of the dephosphorylated form of phosphorylase purified from rat liver and measurement of its activity in crude liver preparations.
[PMID 1774074] A substitution of cysteine for arginine 614 in the ryanodine receptor is potentially causative of human malignant hyperthermia.
[PMID 7586638] A search for three known RYR1 gene mutations in 41 Swedish families with predisposition to malignant hyperthermia.
[PMID 7762556
] Discordance, in a malignant hyperthermia pedigree, between in vitro contracture-test phenotypes and haplotypes for the MHS1 region on chromosome 19q12-13.2, comprising the C1840T transition in the RYR1 gene.
[PMID 7889656] Search for three known mutations in the RYR1 gene in 48 Danish families with malignant hyperthermia.
[PMID 8401544] No C1840 to T mutation in RYR1 in malignant hyperthermia.
[PMID 9520251] Discordance between malignant hyperthermia susceptibility and RYR1 mutation C1840T in two Scandinavian MH families exhibiting this mutation.
[PMID 18564801] Identification of genetic mutations in Australian malignant hyperthermia families using sequencing of RYR1 hotspots.
] Discordance, in a malignant hyperthermia pedigree, between in vitro contracture-test phenotypes and haplotypes for the MHS1 region on chromosome 19q12-13.2, comprising the C1840T transition in the RYR1 gene.
