On incidental findings list [Article:23788249]

Gene:
RYR1
ryanodine receptor 1 (skeletal)

PharmGKB contains no dosing guidelines for this . To report known genotype-based dosing guidelines, or if you are interested in developing guidelines, click here.

PharmGKB annotates drug labels containing pharmacogenetic information approved by the US Food and Drug Administration (FDA), European Medicines Agency (EMA), the Pharmaceuticals and Medical Devices Agency, Japan (PMDA), and Health Canada (Santé Canada) (HCSC). PharmGKB annotations provide a brief summary of the PGx in the label, an excerpt from the label and a downloadable highlighted label PDF file. A list of genes and phenotypes found within the label is mapped to label section headers and listed at the end of each annotation. PharmGKB also attempts to interpret the level of action implied in each label with the "PGx Level" tag.

See the legend for more information about drug label sources and PGx Levels.

We welcome any information regarding drug labels containing PGx information approved by the FDA, EMA, PMDA, HCSC or other Medicine Agencies around the world - please contact feedback.


last updated 12/02/2014

FDA Label for succinylcholine and BCHE, CACNA1S, RYR1

Actionable PGx

Summary

Succinylcholine is rapid acting, depolarizing skeletal muscle relaxant indicated as an adjunct to general anesthesia, to facilitate tracheal intubation and mechanical ventilation. The FDA label warns that individuals who are carriers of the atypical variant of the plasma cholinesterase gene (BCHE) are at risk of prolonged apnea if administered succinylcholine, contraindicates succinylcholine in individuals diagnosed with Duchene's or Becker's muscular dystrophy because of risk of rhabdomyolysis, hyperkalemia and cardiac arrest and contraindicates succinylcholine in individuals with a family history of malignant hyperthermia, a potentially fatal hypermetabolic state in skeletal muscle.

Annotation

Although the succinylcholine chloride (Anectine) drug label does not specifically mention genetic testing, the FDA highlights that precaution should be taken prior to administering succinylcholine for individuals carrying one of many genetic variants known to increase the risk of:

  • Prolonged apnea
  • Malignant hyperthermia
  • Hyperkalemia

Specific variants in the RYR1 and CACNA1S genes are associated with risk of malignant hyperthermia in individuals administered succinylcholine. The currently accepted standard for testing for susceptibility to malignant hyperthermia is the in vitro contracture test (also known as the caffeine halothane contracture test).

Excerpts from the succinylcholine chloride (Anectine) drug label:


RISK OF CARDIAC ARREST FROM HYPERKALEMIC RHABDOMYOLYSIS
There have been rare reports of acute rhabdomyolysis with hyperkalemia followed by ventricular dysrhythmias, cardiac arrest, and death after the administration of succinylcholine to apparently healthy children who were subsequently found to have undiagnosed skeletal muscle myopathy, most frequently Duchenne's muscular dystrophy.

Succinylcholine is contraindicated in persons with personal or familial history of malignant hyperthermia, skeletal muscle myopathies, and known hypersensitivity to the drug.

WARNINGS
SUCCINYLCHOLINE IS METABOLIZED BY PLASMA CHOLINESTERASE AND SHOULD BE USED WITH CAUTION, IF AT ALL, IN PATIENTS KNOWN TO BE OR SUSPECTED OF BEING HOMOZYGOUS FOR THE ATYPICAL PLASMA CHOLINESTERASE GENE.

Patients homozygous for atypical plasma cholinesterase gene (1 in 2500 patients) are extremely sensitive to the neuromuscular blocking effect of succinylcholine. In these patients, a 5- to 10-mg test dose of succinylcholine may be administered to evaluate sensitivity to succinylcholine, or neuromuscular blockade may be produced by the cautious administration of a 1-mg/mL solution of succinylcholine by slow IV infusion. Apnea or prolonged muscle paralysis should be treated with controlled respiration.

For the complete drug label text with sections containing pharmacogenetic information highlighted, see the succinylcholine chloride drug label.

Full label available at DailyMed

Genes and/or phenotypes found in this label

  • Apnea
    • Warnings section, Pediatric use section, Adverse reactions section, Precautions section, other
    • source: FDA Label
  • Hyperkalemia
    • Boxed warning section, Contraindications section, Pediatric use section, Adverse reactions section, Warnings and precautions section, other
    • source: FDA Label
  • Malignant Hyperthermia
    • Boxed warning section, Contraindications section, Warnings section, Pediatric use section, Adverse reactions section, other
    • source: FDA Label
  • BCHE
    • Adverse reactions section, Warnings and precautions section, other
    • source: FDA Label

PharmGKB contains no Clinical Variants that meet the highest level of criteria.

To see more Clinical Variants with lower levels of criteria, click the button at the bottom of the table.

Disclaimer: The PharmGKB's clinical annotations reflect expert consensus based on clinical evidence and peer-reviewed literature available at the time they are written and are intended only to assist clinicians in decision-making and to identify questions for further research. New evidence may have emerged since the time an annotation was submitted to the PharmGKB. The annotations are limited in scope and are not applicable to interventions or diseases that are not specifically identified.

The annotations do not account for individual variations among patients, and cannot be considered inclusive of all proper methods of care or exclusive of other treatments. It remains the responsibility of the health-care provider to determine the best course of treatment for a patient. Adherence to any guideline is voluntary, with the ultimate determination regarding its application to be made solely by the clinician and the patient. PharmGKB assumes no responsibility for any injury or damage to persons or property arising out of or related to any use of the PharmGKB clinical annotations, or for any errors or omissions.

? = Mouse-over for quick help

The table below contains information about pharmacogenomic variants on PharmGKB. Please follow the link in the "Variant" column for more information about a particular variant. Each link in the "Variant" column leads to the corresponding PharmGKB Variant Page. The Variant Page contains summary data, including PharmGKB manually curated information about variant-drug pairs based on individual PubMed publications. The PMIDs for these PubMed publications can be found on the Variant Page.

The tags in the first column of the table indicate what type of information can be found on the corresponding Variant Page on the appropriate tab.

Links in the "Drugs" column lead to PharmGKB Drug Pages.

List of all variant annotations for RYR1

Variant?
(144)
Alternate Names ? Drugs ? Alleles ?
(+ chr strand)
Function ? Amino Acid?
Translation
No VIP available No VIP available VA Triplet N/A N/A N/A
No VIP available No VIP available VA Wild-type N/A N/A N/A
No VIP available CA VA
rs112563513 11258081G>A, 38989863G>A, 7007G>A, 70524G>A, Arg2336His
G > A
Missense
Arg2336His
No VIP available CA VA
rs118192122 11259501G>A, 38991283G>A, 71944G>A, 7361G>A, Arg2454His
G > A
Missense
Arg2454His
No VIP available CA VA
rs118192124 11259494C>T, 38991276C>T, 71937C>T, 7354C>T, Arg2452Trp
C > T
Missense
Arg2452Trp
No VIP available CA VA
rs118192161 11203069C>T, 15512C>T, 38934851C>T, 487C>T, Arg163Cys
C > T
Missense
Arg163Cys
No VIP available CA VA
rs118192162 11214217A>C, 11214217A>G, 1565A>C, 1565A>G, 26660A>C, 26660A>G, 38945999A>C, 38945999A>G, Tyr522Cys, Tyr522Ser
A > C
A > G
Missense
Tyr522Cys
Tyr522Ser
No VIP available CA VA
rs118192163 11253423G>A, 11253423G>C, 38985205G>A, 38985205G>C, 6488G>A, 6488G>C, 65866G>A, 65866G>C, Arg2163His, Arg2163Pro
G > A
G > C
Missense
Arg2163Pro
Arg2163His
No VIP available CA VA
rs118192167 11338862A>G, 14372A>G, 14387A>G, 151305A>G, 39070644A>G, Tyr4791Cys, Tyr4796Cys
A > G
Missense
Tyr4796Cys
No VIP available CA VA
rs118192168 11339261G>A, 14530G>A, 14545G>A, 151704G>A, 39071043G>A, Val4844Ile, Val4849Ile
G > A
Missense
Val4849Ile
No VIP available CA VA
rs118192170 11343847T>C, 14678T>C, 14693T>C, 156290T>C, 39075629T>C, Ile4893Thr, Ile4898Thr
T > C
Missense
Ile4898Thr
No VIP available CA VA
rs118192172 11216403C>T, 1840C>T, 28846C>T, 38948185C>T, Arg614Cys
C > T
Missense
Arg614Cys
No VIP available CA VA
rs118192175 11253422C>T, 38985204C>T, 6487C>T, 65865C>T, Arg2163Cys
C > T
Missense
Arg2163Cys
No VIP available CA VA
rs118192176 11253437G>A, 38985219G>A, 6502G>A, 65880G>A, Val2168Met
G > A
Missense
Val2168Met
No VIP available CA VA
rs118192177 11255141C>G, 11255141C>T, 38986923C>G, 38986923C>T, 6617C>G, 6617C>T, 67584C>G, 67584C>T, Thr2206Arg, Thr2206Met
C > G
C > T
Missense
Thr2206Arg
Thr2206Met
No VIP available CA VA
rs121918592 1021G>A, 1021G>C, 11207570G>A, 11207570G>C, 20013G>A, 20013G>C, 38939352G>A, 38939352G>C, Gly341Arg
G > A
G > C
Missense
Gly341Arg
No VIP available CA VA
rs121918593 11258851G>A, 38990633G>A, 71294G>A, 7300G>A, Gly2434Arg
G > A
Missense
Gly2434Arg
No VIP available CA VA
rs121918594 11259513G>A, 38991295G>A, 71956G>A, 7373G>A, Arg2458His
G > A
Missense
Arg2458His
No VIP available CA VA
rs121918595 11338952C>T, 14462C>T, 14477C>T, 151395C>T, 39070734C>T, Thr4821Ile, Thr4826Ile
C > T
Missense
Thr4826Ile
No VIP available No Clinical Annotations available VA
rs142474192 11202648G>A, 15091G>A, 38934430G>A, 418G>A, Ala140Thr
G > A
Missense
Ala140Thr
No VIP available No Clinical Annotations available VA
rs146429605 11242151A>G, 38973933A>G, 4711A>G, 54594A>G, Ile1571Val
A > G
Missense
Ile1571Val
No VIP available No Clinical Annotations available VA
rs147136339 11302409A>G, 114852A>G, 11783A>G, 11798A>G, 39034191A>G, Tyr3928Cys, Tyr3933Cys
A > G
Missense
Tyr3933Cys
No VIP available No Clinical Annotations available VA
rs147213895 11258099A>G, 38989881A>G, 7025A>G, 70542A>G, Asn2342Ser
A > G
Missense
Asn2342Ser
No VIP available No Clinical Annotations available VA
rs148399313 11302223G>A, 114666G>A, 11693G>A, 11708G>A, 39034005G>A, Arg3898Gln, Arg3903Gln
G > A
Missense
Arg3903Gln
No VIP available CA VA
rs1801086 11205568G>A, 11205568G>C, 11205568G>M, 18011G>A, 18011G>C, 18011G>M, 38937350G>A, 38937350G>C, 38937350G>M, 742G>A, 742G>C, 742G>M, Gly248Arg, RYR1:ARG248GLY
G > A
G > C
Missense
Gly248Arg
No VIP available CA VA
rs193922747 103T>C, 11199660T>C, 12103T>C, 38931442T>C, Cys35Arg
T > C
Missense
Cys35Arg
No VIP available CA VA
rs193922772 11216404G>T, 1841G>T, 28847G>T, 38948186G>T, Arg614Leu
G > A
G > T
Missense
Arg614Leu
No VIP available CA VA
rs193922802 11258513G>A, 38990295G>A, 7048G>A, 70956G>A, Ala2350Thr
G > A
Missense
Ala2350Thr
No VIP available CA VA
rs193922803 11258528C>T, 38990310C>T, 7063C>T, 70971C>T, Arg2355Trp
C > T
Missense
Arg2355Trp
No VIP available No Clinical Annotations available VA
rs193922807 11258589G>C, 38990371G>C, 71032G>C, 7124G>C, Gly2375Ala
G > C
Missense
Gly2375Ala
No VIP available CA VA
rs193922816 11259500C>T, 38991282C>T, 71943C>T, 7360C>T, Arg2454Cys
C > T
Missense
Arg2454Cys
No VIP available CA VA
rs193922876 11338972C>T, 14482C>T, 14497C>T, 151415C>T, 39070754C>T, His4828Tyr, His4833Tyr
C > T
Missense
His4833Tyr
No VIP available CA VA
rs28933396 11258855G>A, 11258855G>T, 38990637G>A, 38990637G>T, 71298G>A, 71298G>T, 7304G>A, 7304G>T, Arg2435His, Arg2435Leu, RYR1:ARG2434HIS, RYR1:ARG2435HIS, RYR1:ARG2436HIS, p.R2435H
G > A
G > T
Missense
Arg2435Leu
Arg2435His
No VIP available CA VA
rs28933397 11259512C>T, 38991294C>T, 71955C>T, 7372C>T, 7372CT, ARG2458CYS, Arg2458Cys
C > T
Missense
Arg2458Cys
No VIP available CA VA
rs63749869 11339298G>A, 14567G>A, 14582G>A, 151741G>A, 39071080G>A, Arg4856His, Arg4861His
G > A
Missense
Arg4861His
No VIP available No Clinical Annotations available VA
rs769120898 12277G>A, 12292G>A, 12295G>A, 12307G>A, 12310G>A, 132441G>A, 38561140G>A, 39051780G>A, Gly4093Ser, Gly4098Ser, Gly4099Ser, Gly4103Ser, Gly4104Ser
G > A
Missense
Gly4104Ser
Alleles, Functions, and Amino Acid Translations are all sourced from dbSNP 144

Overview

Alternate Names:  CCO; MHS; MHS1; protein phosphatase 1, regulatory subunit 137
Alternate Symbols:  PPP1R137; RYR
PharmGKB Accession Id: PA34896

Details

Cytogenetic Location: chr19 : q13.2 - q13.2
GP mRNA Boundary: chr19 : 38924340 - 39078204
GP Gene Boundary: chr19 : 38914340 - 39081204
Strand: plus

Visualization

UCSC has a Genome Browser that you can use to view PharmGKB annotations for this gene in context with many other sources of information.

View on UCSC Browser
The mRNA boundaries are calculated using the gene's default feature set from NCBI, mapped onto the UCSC Golden Path. PharmGKB sets gene boundaries by expanding the mRNA boundaries by no less than 10,000 bases upstream (5') and 3,000 bases downstream (3') to allow for potential regulatory regions.

Haplotype Overview

The haplotype is derived from Article:25958340. The variants were found in "cis" in four different families. The triplet was considered to confer susceptibility to malignant hyperthermia via in vitro contracture test.

Source: PharmGKB

All alleles in the download file are on the positive chromosomal strand. PharmGKB considers the first haplotype listed in each table as the reference haplotype for that set.

PharmGKB Curated Pathways

Pathways created internally by PharmGKB based primarily on literature evidence.

External Pathways

Links to non-PharmGKB pathways.

PharmGKB contains no links to external pathways for this gene. To report a pathway, click here.

Curated Information ?

Evidence Gene
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
CACNA1S

Curated Information ?

Evidence Drug Class
No Dosing Guideline available No Drug Label available CA VA No VIP available No VIP available
hmg coa reductase inhibitors

Curated Information ?

Publications related to RYR1: 36

No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
Malignant hyperthermia, a Scandinavian update. Acta anaesthesiologica Scandinavica. 2015. Broman M, et al. PubMed
No Dosing Guideline available No Drug Label available CA VA No VIP available No VIP available
Compound RYR1 heterozygosity resulting in a complex phenotype of malignant hyperthermia susceptibility and a core myopathy. Neuromuscular disorders : NMD. 2015. Kraeva N, et al. PubMed
No Dosing Guideline available No Drug Label available CA VA No VIP available No VIP available
RYR1-related malignant hyperthermia with marked cerebellar involvement - a paradigm of heat-induced CNS injury?. Neuromuscular disorders : NMD. 2015. Forrest Katharine M L, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Pediatric malignant hyperthermia: risk factors, morbidity, and mortality identified from the Nationwide Inpatient Sample and Kids' Inpatient Database. Paediatric anaesthesia. 2014. Salazar Jose H, et al. PubMed
No Dosing Guideline available No Drug Label available CA VA No VIP available No VIP available
Functional characterisation of the R2452W ryanodine receptor variant associated with malignant hyperthermia susceptibility. Cell calcium. 2014. Roesl Cornelia, et al. PubMed
No Dosing Guideline available No Drug Label available CA VA No VIP available No VIP available
Next-generation DNA sequencing of a Swedish malignant hyperthermia cohort. Clinical genetics. 2014. Broman M, et al. PubMed
No Dosing Guideline available No Drug Label available CA VA No VIP available No VIP available
Functional characterization of 2 known ryanodine receptor mutations causing malignant hyperthermia. Anesthesia and analgesia. 2014. Schiemann Anja H, et al. PubMed
No Dosing Guideline available No Drug Label available CA VA No VIP available No VIP available
Functional and genetic characterization of clinical malignant hyperthermia crises: a multi-centre study. Orphanet journal of rare diseases. 2014. Klingler Werner, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Using exome data to identify malignant hyperthermia susceptibility mutations. Anesthesiology. 2013. Gonsalves Stephen G, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. Genetics in medicine : official journal of the American College of Medical Genetics. 2013. Green Robert C, et al. PubMed
No Dosing Guideline available No Drug Label available CA VA No VIP available No VIP available
Ryanodine receptor type 1 gene variants in the malignant hyperthermia-susceptible population of the United States. Anesthesia and analgesia. 2013. Brandom Barbara W, et al. PubMed
No Dosing Guideline available No Drug Label available CA VA No VIP available No VIP available
Nonspecific sarcolemmal cation channels are critical for the pathogenesis of malignant hyperthermia. FASEB journal : official publication of the Federation of American Societies for Experimental Biology. 2013. Eltit José M, et al. PubMed
No Dosing Guideline available No Drug Label available CA VA No VIP available No VIP available
A study of a family with the skeletal muscle RYR1 mutation (c.7354C>T) associated with central core myopathy and malignant hyperthermia susceptibility. Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia. 2012. Taylor A, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Mutated p.4894 RyR1 function related to malignant hyperthermia and congenital neuromuscular disease with uniform type 1 fiber (CNMDU1). Anesthesia and analgesia. 2011. Haraki Toshiaki, et al. PubMed
No Dosing Guideline available No Drug Label available CA VA No VIP available No VIP available
Ryanodine receptor type 1 gene mutations found in the Canadian malignant hyperthermia population. Canadian journal of anaesthesia = Journal canadien d'anesthésie. 2011. Kraeva Natasha, et al. PubMed
No Dosing Guideline available No Drug Label available CA VA No VIP available No VIP available
Novel missense mutations and unexpected multiple changes of RYR1 gene in 75 malignant hyperthermia families. Clinical genetics. 2011. Tammaro A, et al. PubMed
No Dosing Guideline available No Drug Label available CA VA No VIP available No VIP available
Genetic risk for malignant hyperthermia in non-anesthesia-induced myopathies. Molecular genetics and metabolism. 2011. Vladutiu Georgirene D, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Store-operated Ca2+ entry in malignant hyperthermia-susceptible human skeletal muscle. The Journal of biological chemistry. 2010. Duke Adrian M, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
The ryanodine receptor type 1 gene variants in African American men with exertional rhabdomyolysis and malignant hyperthermia susceptibility. Clinical genetics. 2009. Sambuughin N, et al. PubMed
No Dosing Guideline available No Drug Label available CA VA No VIP available No VIP available
Malignant hyperthermia: a pharmacogenetic disorder. Pharmacogenomics. 2008. Stowell Kathryn M. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Enhanced excitation-coupled calcium entry in myotubes expressing malignant hyperthermia mutation R163C is attenuated by dantrolene. Molecular pharmacology. 2008. Cherednichenko Gennady, et al. PubMed
No Dosing Guideline available No Drug Label available CA VA No VIP available No VIP available
Identification and biochemical characterization of a novel ryanodine receptor gene mutation associated with malignant hyperthermia. Anesthesiology. 2008. Anderson Ayuk A, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Molecular mechanisms and phenotypic variation in RYR1-related congenital myopathies. Brain : a journal of neurology. 2007. Zhou Haiyan, et al. PubMed
No Dosing Guideline available No Drug Label available CA VA No VIP available No VIP available
Pharmacologic and functional characterization of malignant hyperthermia in the R163C RyR1 knock-in mouse. Anesthesiology. 2006. Yang Tianzhong, et al. PubMed
No Dosing Guideline available No Drug Label available CA VA No VIP available No VIP available
Heat- and anesthesia-induced malignant hyperthermia in an RyR1 knock-in mouse. FASEB journal : official publication of the Federation of American Societies for Experimental Biology. 2006. Chelu Mihail G, et al. PubMed
No Dosing Guideline available No Drug Label available CA VA No VIP available No VIP available
Malignant hyperthermia in North America: genetic screening of the three hot spots in the type I ryanodine receptor gene. Anesthesiology. 2004. Sei Yoshitatsu, et al. PubMed
No Dosing Guideline available No Drug Label available CA VA No VIP available No VIP available
Patients with malignant hyperthermia demonstrate an altered calcium control mechanism in B lymphocytes. Anesthesiology. 2002. Sei Yoshitatsu, et al. PubMed
No Dosing Guideline available No Drug Label available CA VA No VIP available No VIP available
Increased sensitivity to 4-chloro-m-cresol and caffeine in primary myotubes from malignant hyperthermia susceptible individuals carrying the ryanodine receptor 1 Thr2206Met (C6617T) mutation. Clinical genetics. 2002. Wehner M, et al. PubMed
No Dosing Guideline available No Drug Label available CA VA No VIP available No VIP available
RYR1 mutations causing central core disease are associated with more severe malignant hyperthermia in vitro contracture test phenotypes. Human mutation. 2002. Robinson Rachel L, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
An autosomal dominant congenital myopathy with cores and rods is associated with a neomutation in the RYR1 gene encoding the skeletal muscle ryanodine receptor. Human molecular genetics. 2000. Monnier N, et al. PubMed
No Dosing Guideline available No Drug Label available CA VA No VIP available No VIP available
A novel ryanodine receptor mutation and genotype-phenotype correlation in a large malignant hyperthermia New Zealand Maori pedigree. Human molecular genetics. 2000. Brown R L, et al. PubMed
No Dosing Guideline available No Drug Label available CA VA No VIP available No VIP available
Malignant hyperthermia in infancy and identification of novel RYR1 mutation. British journal of anaesthesia. 2000. Chamley D, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Ryanodine receptor mutations in malignant hyperthermia and central core disease. Human mutation. 2000. McCarthy T V, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Segregation of malignant hyperthermia, central core disease and chromosome 19 markers. British journal of anaesthesia. 1999. Curran J L, et al. PubMed
No Dosing Guideline available No Drug Label available CA VA No VIP available No VIP available
Polymorphisms and deduced amino acid substitutions in the coding sequence of the ryanodine receptor (RYR1) gene in individuals with malignant hyperthermia. Genomics. 1992. Gillard E F, et al. PubMed
No Dosing Guideline available No Drug Label available CA VA No VIP available No VIP available
A substitution of cysteine for arginine 614 in the ryanodine receptor is potentially causative of human malignant hyperthermia. Genomics. 1991. Gillard E F, et al. PubMed

LinkOuts

Entrez Gene:
6261
OMIM:
117000
145600
180901
255320
UCSC Genome Browser:
NM_000540
RefSeq RNA:
NM_000540
NM_001042723
RefSeq Protein:
NP_000531
NP_001036188
MutDB:
RYR1
ALFRED:
LO000292N
HuGE:
RYR1
Comparative Toxicogenomics Database:
6261
ModBase:
P21817
HGNC:
10483

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