Chemical: Drug
desflurane

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


Annotated Labels

  1. FDA Label for desflurane and CACNA1S,RYR1
  2. HCSC Label for desflurane and CACNA1S,RYR1

last updated 09/01/2016

1. FDA Label for desflurane and CACNA1S,RYR1

Actionable PGx

Genes and/or phenotypes found in this label

  • Hyperkalemia
    • Warnings and precautions section
    • source: U.S. Food and Drug Administration
  • Malignant Hyperthermia
    • Contraindications section, Warnings and precautions section, Patient Counseling Information
    • source: U.S. Food and Drug Administration
  • Muscular Dystrophy, Duchenne
    • Contraindications section, Warnings and precautions section, Patient Counseling Information
    • source: U.S. Food and Drug Administration
  • Rhabdomyolysis
    • source: U.S. Food and Drug Administration

last updated 09/01/2016

2. HCSC Label for desflurane and CACNA1S,RYR1

Actionable PGx

Genes and/or phenotypes found in this label

  • Hyperkalemia
    • Contraindications section, Drug interactions section, Adverse reactions section, Warnings and precautions section
    • source: Health Canada Santé Canada
  • Malignant Hyperthermia
    • Contraindications section, Adverse reactions section, Clinical pharmacology section, Warnings and precautions section
    • source: Health Canada Santé Canada
  • Muscular Dystrophy, Duchenne
    • Drug interactions section
    • source: Health Canada Santé Canada

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 page.

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.

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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.

Links in the "Gene" column lead to PharmGKB Gene Pages.

List of all variant annotations for desflurane

Gene ? Variant?
(147)
Alternate Names ? Chemicals ? Alleles ?
(+ chr strand)
Function ? Amino Acid?
Translation
rs111888148 NC_000019.10:g.38455463G>A, NC_000019.10:g.38455463G>T, NC_000019.9:g.38946103G>A, NC_000019.9:g.38946103G>T, NG_008866.1:g.26764G>A, NG_008866.1:g.26764G>T, NM_000540.2:c.1589G>A, NM_000540.2:c.1589G>T, NM_001042723.1:c.1589G>A, NM_001042723.1:c.1589G>T, NP_000531.2:p.Arg530His, NP_000531.2:p.Arg530Leu, NP_001036188.1:p.Arg530His, NP_001036188.1:p.Arg530Leu, XM_006723317.1:c.1589G>A, XM_006723317.1:c.1589G>T, XM_006723319.1:c.1589G>A, XM_006723319.1:c.1589G>T, XM_011527204.1:c.1586G>A, XM_011527204.1:c.1586G>T, XM_011527205.1:c.1589G>A, XM_011527205.1:c.1589G>T, XP_006723380.1:p.Arg530His, XP_006723380.1:p.Arg530Leu, XP_006723382.1:p.Arg530His, XP_006723382.1:p.Arg530Leu, XP_011525506.1:p.Arg529His, XP_011525506.1:p.Arg529Leu, XP_011525507.1:p.Arg530His, XP_011525507.1:p.Arg530Leu
G > A
SNP
R530H
rs112563513 NC_000019.10:g.38499223G>A, NC_000019.9:g.38989863G>A, NG_008866.1:g.70524G>A, NM_000540.2:c.7007G>A, NM_001042723.1:c.7007G>A, NP_000531.2:p.Arg2336His, NP_001036188.1:p.Arg2336His, XM_006723317.1:c.7007G>A, XM_006723319.1:c.7007G>A, XM_011527204.1:c.7004G>A, XM_011527205.1:c.7007G>A, XP_006723380.1:p.Arg2336His, XP_006723382.1:p.Arg2336His, XP_011525506.1:p.Arg2335His, XP_011525507.1:p.Arg2336His
G > A
SNP
R2336H
rs118192116 NC_000019.10:g.38451850C>G, NC_000019.9:g.38942490C>G, NG_008866.1:g.23151C>G, NM_000540.2:c.1209C>G, NM_001042723.1:c.1209C>G, NP_000531.2:p.Ile403Met, NP_001036188.1:p.Ile403Met, XM_006723317.1:c.1209C>G, XM_006723319.1:c.1209C>G, XM_011527204.1:c.1206C>G, XM_011527205.1:c.1209C>G, XP_006723380.1:p.Ile403Met, XP_006723382.1:p.Ile403Met, XP_011525506.1:p.Ile402Met, XP_011525507.1:p.Ile403Met
C > G
SNP
I403M
rs118192122 NC_000019.10:g.38500643G>A, NC_000019.9:g.38991283G>A, NG_008866.1:g.71944G>A, NM_000540.2:c.7361G>A, NM_001042723.1:c.7361G>A, NP_000531.2:p.Arg2454His, NP_001036188.1:p.Arg2454His, XM_006723317.1:c.7361G>A, XM_006723319.1:c.7361G>A, XM_011527204.1:c.7358G>A, XM_011527205.1:c.7361G>A, XP_006723380.1:p.Arg2454His, XP_006723382.1:p.Arg2454His, XP_011525506.1:p.Arg2453His, XP_011525507.1:p.Arg2454His
G > A
SNP
R2454H
No VIP available CA No Variant Annotations available
rs118192124 NC_000019.10:g.38500636C>T, NC_000019.9:g.38991276C>T, NG_008866.1:g.71937C>T, NM_000540.2:c.7354C>T, NM_001042723.1:c.7354C>T, NP_000531.2:p.Arg2452Trp, NP_001036188.1:p.Arg2452Trp, XM_006723317.1:c.7354C>T, XM_006723319.1:c.7354C>T, XM_011527204.1:c.7351C>T, XM_011527205.1:c.7354C>T, XP_006723380.1:p.Arg2452Trp, XP_006723382.1:p.Arg2452Trp, XP_011525506.1:p.Arg2451Trp, XP_011525507.1:p.Arg2452Trp
C > T
SNP
R2452W
rs118192161 NC_000019.10:g.38444211C>T, NC_000019.9:g.38934851C>T, NG_008866.1:g.15512C>T, NM_000540.2:c.487C>T, NM_001042723.1:c.487C>T, NP_000531.2:p.Arg163Cys, NP_001036188.1:p.Arg163Cys, XM_006723317.1:c.487C>T, XM_006723319.1:c.487C>T, XM_011527204.1:c.487C>T, XM_011527205.1:c.487C>T, XP_006723380.1:p.Arg163Cys, XP_006723382.1:p.Arg163Cys, XP_011525506.1:p.Arg163Cys, XP_011525507.1:p.Arg163Cys
C > T
SNP
R163C
rs118192162 NC_000019.10:g.38455359A>C, NC_000019.10:g.38455359A>G, NC_000019.9:g.38945999A>C, NC_000019.9:g.38945999A>G, NG_008866.1:g.26660A>C, NG_008866.1:g.26660A>G, NM_000540.2:c.1565A>C, NM_000540.2:c.1565A>G, NM_001042723.1:c.1565A>C, NM_001042723.1:c.1565A>G, NP_000531.2:p.Tyr522Cys, NP_000531.2:p.Tyr522Ser, NP_001036188.1:p.Tyr522Cys, NP_001036188.1:p.Tyr522Ser, XM_006723317.1:c.1565A>C, XM_006723317.1:c.1565A>G, XM_006723319.1:c.1565A>C, XM_006723319.1:c.1565A>G, XM_011527204.1:c.1562A>C, XM_011527204.1:c.1562A>G, XM_011527205.1:c.1565A>C, XM_011527205.1:c.1565A>G, XP_006723380.1:p.Tyr522Cys, XP_006723380.1:p.Tyr522Ser, XP_006723382.1:p.Tyr522Cys, XP_006723382.1:p.Tyr522Ser, XP_011525506.1:p.Tyr521Cys, XP_011525506.1:p.Tyr521Ser, XP_011525507.1:p.Tyr522Cys, XP_011525507.1:p.Tyr522Ser
A > C
SNP
Y522S
rs118192163 NC_000019.10:g.38494565G>A, NC_000019.10:g.38494565G>C, NC_000019.9:g.38985205G>A, NC_000019.9:g.38985205G>C, NG_008866.1:g.65866G>A, NG_008866.1:g.65866G>C, NM_000540.2:c.6488G>A, NM_000540.2:c.6488G>C, NM_001042723.1:c.6488G>A, NM_001042723.1:c.6488G>C, NP_000531.2:p.Arg2163His, NP_000531.2:p.Arg2163Pro, NP_001036188.1:p.Arg2163His, NP_001036188.1:p.Arg2163Pro, XM_006723317.1:c.6488G>A, XM_006723317.1:c.6488G>C, XM_006723319.1:c.6488G>A, XM_006723319.1:c.6488G>C, XM_011527204.1:c.6485G>A, XM_011527204.1:c.6485G>C, XM_011527205.1:c.6488G>A, XM_011527205.1:c.6488G>C, XP_006723380.1:p.Arg2163His, XP_006723380.1:p.Arg2163Pro, XP_006723382.1:p.Arg2163His, XP_006723382.1:p.Arg2163Pro, XP_011525506.1:p.Arg2162His, XP_011525506.1:p.Arg2162Pro, XP_011525507.1:p.Arg2163His, XP_011525507.1:p.Arg2163Pro, rs28933999
G > A
SNP
R2163H
rs118192167 NC_000019.10:g.38580004A>G, NC_000019.9:g.39070644A>G, NG_008866.1:g.151305A>G, NM_000540.2:c.14387A>G, NM_001042723.1:c.14372A>G, NP_000531.2:p.Tyr4796Cys, NP_001036188.1:p.Tyr4791Cys, XM_006723317.1:c.14369A>G, XM_006723319.1:c.14354A>G, XM_011527204.1:c.14384A>G, XM_011527205.1:c.14300A>G, XP_006723380.1:p.Tyr4790Cys, XP_006723382.1:p.Tyr4785Cys, XP_011525506.1:p.Tyr4795Cys, XP_011525507.1:p.Tyr4767Cys
A > G
SNP
Y4796C
rs118192170 NC_000019.10:g.38584989T>C, NC_000019.9:g.39075629T>C, NG_008866.1:g.156290T>C, NM_000540.2:c.14693T>C, NM_001042723.1:c.14678T>C, NP_000531.2:p.Ile4898Thr, NP_001036188.1:p.Ile4893Thr, XM_006723317.1:c.14675T>C, XM_006723319.1:c.14660T>C, XM_011527204.1:c.14690T>C, XM_011527205.1:c.14606T>C, XP_006723380.1:p.Ile4892Thr, XP_006723382.1:p.Ile4887Thr, XP_011525506.1:p.Ile4897Thr, XP_011525507.1:p.Ile4869Thr
T > C
SNP
I4898T
rs118192172 NC_000019.10:g.38457545C>T, NC_000019.9:g.38948185C>T, NG_008866.1:g.28846C>T, NM_000540.2:c.1840C>T, NM_001042723.1:c.1840C>T, NP_000531.2:p.Arg614Cys, NP_001036188.1:p.Arg614Cys, XM_006723317.1:c.1840C>T, XM_006723319.1:c.1840C>T, XM_011527204.1:c.1837C>T, XM_011527205.1:c.1840C>T, XP_006723380.1:p.Arg614Cys, XP_006723382.1:p.Arg614Cys, XP_011525506.1:p.Arg613Cys, XP_011525507.1:p.Arg614Cys, rs28933996
C > T
SNP
R614C
rs118192175 NC_000019.10:g.38494564C>T, NC_000019.9:g.38985204C>T, NG_008866.1:g.65865C>T, NM_000540.2:c.6487C>T, NM_001042723.1:c.6487C>T, NP_000531.2:p.Arg2163Cys, NP_001036188.1:p.Arg2163Cys, XM_006723317.1:c.6487C>T, XM_006723319.1:c.6487C>T, XM_011527204.1:c.6484C>T, XM_011527205.1:c.6487C>T, XP_006723380.1:p.Arg2163Cys, XP_006723382.1:p.Arg2163Cys, XP_011525506.1:p.Arg2162Cys, XP_011525507.1:p.Arg2163Cys, rs28933998
C > T
SNP
R2163C
rs118192176 NC_000019.10:g.38494579G>A, NC_000019.9:g.38985219G>A, NG_008866.1:g.65880G>A, NM_000540.2:c.6502G>A, NM_001042723.1:c.6502G>A, NP_000531.2:p.Val2168Met, NP_001036188.1:p.Val2168Met, XM_006723317.1:c.6502G>A, XM_006723319.1:c.6502G>A, XM_011527204.1:c.6499G>A, XM_011527205.1:c.6502G>A, XP_006723380.1:p.Val2168Met, XP_006723382.1:p.Val2168Met, XP_011525506.1:p.Val2167Met, XP_011525507.1:p.Val2168Met
G > A
SNP
V2168M
rs118192177 NC_000019.10:g.38496283C>G, NC_000019.10:g.38496283C>T, NC_000019.9:g.38986923C>G, NC_000019.9:g.38986923C>T, NG_008866.1:g.67584C>G, NG_008866.1:g.67584C>T, NM_000540.2:c.6617C>G, NM_000540.2:c.6617C>T, NM_001042723.1:c.6617C>G, NM_001042723.1:c.6617C>T, NP_000531.2:p.Thr2206Arg, NP_000531.2:p.Thr2206Met, NP_001036188.1:p.Thr2206Arg, NP_001036188.1:p.Thr2206Met, XM_006723317.1:c.6617C>G, XM_006723317.1:c.6617C>T, XM_006723319.1:c.6617C>G, XM_006723319.1:c.6617C>T, XM_011527204.1:c.6614C>G, XM_011527204.1:c.6614C>T, XM_011527205.1:c.6617C>G, XM_011527205.1:c.6617C>T, XP_006723380.1:p.Thr2206Arg, XP_006723380.1:p.Thr2206Met, XP_006723382.1:p.Thr2206Arg, XP_006723382.1:p.Thr2206Met, XP_011525506.1:p.Thr2205Arg, XP_011525506.1:p.Thr2205Met, XP_011525507.1:p.Thr2206Arg, XP_011525507.1:p.Thr2206Met, rs28934000
C > G
C > T
SNP
T2206M/R
rs118192178 NC_000019.10:g.38500898C>G, NC_000019.10:g.38500898C>T, NC_000019.9:g.38991538C>G, NC_000019.9:g.38991538C>T, NG_008866.1:g.72199C>G, NG_008866.1:g.72199C>T, NM_000540.2:c.7522C>G, NM_000540.2:c.7522C>T, NM_001042723.1:c.7522C>G, NM_001042723.1:c.7522C>T, NP_000531.2:p.Arg2508Cys, NP_000531.2:p.Arg2508Gly, NP_001036188.1:p.Arg2508Cys, NP_001036188.1:p.Arg2508Gly, XM_006723317.1:c.7522C>G, XM_006723317.1:c.7522C>T, XM_006723319.1:c.7522C>G, XM_006723319.1:c.7522C>T, XM_011527204.1:c.7519C>G, XM_011527204.1:c.7519C>T, XM_011527205.1:c.7522C>G, XM_011527205.1:c.7522C>T, XP_006723380.1:p.Arg2508Cys, XP_006723380.1:p.Arg2508Gly, XP_006723382.1:p.Arg2508Cys, XP_006723382.1:p.Arg2508Gly, XP_011525506.1:p.Arg2507Cys, XP_011525506.1:p.Arg2507Gly, XP_011525507.1:p.Arg2508Cys, XP_011525507.1:p.Arg2508Gly
C > T
SNP
R2508C
rs121918592 NC_000019.10:g.38448712G>A, NC_000019.10:g.38448712G>C, NC_000019.9:g.38939352G>A, NC_000019.9:g.38939352G>C, NG_008866.1:g.20013G>A, NG_008866.1:g.20013G>C, NM_000540.2:c.1021G>A, NM_000540.2:c.1021G>C, NM_001042723.1:c.1021G>A, NM_001042723.1:c.1021G>C, NP_000531.2:p.Gly341Arg, NP_001036188.1:p.Gly341Arg, XM_006723317.1:c.1021G>A, XM_006723317.1:c.1021G>C, XM_006723319.1:c.1021G>A, XM_006723319.1:c.1021G>C, XM_011527204.1:c.1018G>A, XM_011527204.1:c.1018G>C, XM_011527205.1:c.1021G>A, XM_011527205.1:c.1021G>C, XP_006723380.1:p.Gly341Arg, XP_006723382.1:p.Gly341Arg, XP_011525506.1:p.Gly340Arg, XP_011525507.1:p.Gly341Arg, rs28933997
G > A
G > C
SNP
G341R
rs121918593 NC_000019.10:g.38499993G>A, NC_000019.9:g.38990633G>A, NG_008866.1:g.71294G>A, NM_000540.2:c.7300G>A, NM_001042723.1:c.7300G>A, NP_000531.2:p.Gly2434Arg, NP_001036188.1:p.Gly2434Arg, XM_006723317.1:c.7300G>A, XM_006723319.1:c.7300G>A, XM_011527204.1:c.7297G>A, XM_011527205.1:c.7300G>A, XP_006723380.1:p.Gly2434Arg, XP_006723382.1:p.Gly2434Arg, XP_011525506.1:p.Gly2433Arg, XP_011525507.1:p.Gly2434Arg
G > A
SNP
G2434R
rs121918594 NC_000019.10:g.38500655G>A, NC_000019.9:g.38991295G>A, NG_008866.1:g.71956G>A, NM_000540.2:c.7373G>A, NM_001042723.1:c.7373G>A, NP_000531.2:p.Arg2458His, NP_001036188.1:p.Arg2458His, XM_006723317.1:c.7373G>A, XM_006723319.1:c.7373G>A, XM_011527204.1:c.7370G>A, XM_011527205.1:c.7373G>A, XP_006723380.1:p.Arg2458His, XP_006723382.1:p.Arg2458His, XP_011525506.1:p.Arg2457His, XP_011525507.1:p.Arg2458His
G > A
SNP
R2458H
rs121918595 NC_000019.10:g.38580094C>T, NC_000019.9:g.39070734C>T, NG_008866.1:g.151395C>T, NM_000540.2:c.14477C>T, NM_001042723.1:c.14462C>T, NP_000531.2:p.Thr4826Ile, NP_001036188.1:p.Thr4821Ile, XM_006723317.1:c.14459C>T, XM_006723319.1:c.14444C>T, XM_011527204.1:c.14474C>T, XM_011527205.1:c.14390C>T, XP_006723380.1:p.Thr4820Ile, XP_006723382.1:p.Thr4815Ile, XP_011525506.1:p.Thr4825Ile, XP_011525507.1:p.Thr4797Ile
C > T
SNP
T4826I
No VIP available CA No Variant Annotations available
rs1800559 NC_000001.10:g.201029943C>A, NC_000001.10:g.201029943C>T, NC_000001.11:g.201060815C>A, NC_000001.11:g.201060815C>T, NG_009816.1:g.56752G>A, NG_009816.1:g.56752G>T, NM_000069.2:c.3257G>A, NM_000069.2:c.3257G>T, NP_000060.2:p.Arg1086His, NP_000060.2:p.Arg1086Leu, XM_005245478.1:c.3257G>A, XM_005245478.1:c.3257G>T, XM_005245478.2:c.3257G>A, XM_005245478.2:c.3257G>T, XP_005245535.1:p.Arg1086His, XP_005245535.1:p.Arg1086Leu, rs28931587, rs80338783
C > A
C > T
SNP
R1086H/L
rs1801086 NC_000019.10:g.38446710G>A, NC_000019.10:g.38446710G>C, NC_000019.10:g.38446710G>T, NC_000019.9:g.38937350G>A, NC_000019.9:g.38937350G>C, NC_000019.9:g.38937350G>T, NG_008866.1:g.18011G>A, NG_008866.1:g.18011G>C, NG_008866.1:g.18011G>T, NM_000540.2:c.742G>A, NM_000540.2:c.742G>C, NM_000540.2:c.742G>T, NM_001042723.1:c.742G>A, NM_001042723.1:c.742G>C, NM_001042723.1:c.742G>T, NP_000531.2:p.Gly248Arg, NP_000531.2:p.Gly248Trp, NP_001036188.1:p.Gly248Arg, NP_001036188.1:p.Gly248Trp, XM_006723317.1:c.742G>A, XM_006723317.1:c.742G>C, XM_006723317.1:c.742G>T, XM_006723319.1:c.742G>A, XM_006723319.1:c.742G>C, XM_006723319.1:c.742G>T, XM_011527204.1:c.742G>A, XM_011527204.1:c.742G>C, XM_011527204.1:c.742G>T, XM_011527205.1:c.742G>A, XM_011527205.1:c.742G>C, XM_011527205.1:c.742G>T, XP_006723380.1:p.Gly248Arg, XP_006723380.1:p.Gly248Trp, XP_006723382.1:p.Gly248Arg, XP_006723382.1:p.Gly248Trp, XP_011525506.1:p.Gly248Arg, XP_011525506.1:p.Gly248Trp, XP_011525507.1:p.Gly248Arg, XP_011525507.1:p.Gly248Trp
G > A
G > C
G > T
SNP
G248R/W
No VIP available CA No Variant Annotations available
rs193922747 NC_000019.10:g.38440802T>C, NC_000019.9:g.38931442T>C, NG_008866.1:g.12103T>C, NM_000540.2:c.103T>C, NM_001042723.1:c.103T>C, NP_000531.2:p.Cys35Arg, NP_001036188.1:p.Cys35Arg, XM_006723317.1:c.103T>C, XM_006723319.1:c.103T>C, XM_011527204.1:c.103T>C, XM_011527205.1:c.103T>C, XP_006723380.1:p.Cys35Arg, XP_006723382.1:p.Cys35Arg, XP_011525506.1:p.Cys35Arg, XP_011525507.1:p.Cys35Arg
T > C
SNP
C35R
No VIP available CA No Variant Annotations available
rs193922753 NC_000019.10:g.38444212G>A, NC_000019.10:g.38444212G>T, NC_000019.9:g.38934852G>A, NC_000019.9:g.38934852G>T, NG_008866.1:g.15513G>A, NG_008866.1:g.15513G>T, NM_000540.2:c.488G>A, NM_000540.2:c.488G>T, NM_001042723.1:c.488G>A, NM_001042723.1:c.488G>T, NP_000531.2:p.Arg163His, NP_000531.2:p.Arg163Leu, NP_001036188.1:p.Arg163His, NP_001036188.1:p.Arg163Leu, XM_006723317.1:c.488G>A, XM_006723317.1:c.488G>T, XM_006723319.1:c.488G>A, XM_006723319.1:c.488G>T, XM_011527204.1:c.488G>A, XM_011527204.1:c.488G>T, XM_011527205.1:c.488G>A, XM_011527205.1:c.488G>T, XP_006723380.1:p.Arg163His, XP_006723380.1:p.Arg163Leu, XP_006723382.1:p.Arg163His, XP_006723382.1:p.Arg163Leu, XP_011525506.1:p.Arg163His, XP_011525506.1:p.Arg163Leu, XP_011525507.1:p.Arg163His, XP_011525507.1:p.Arg163Leu
G > A
G > T
SNP
R163H/L
rs193922770 NC_000019.10:g.38455528C>T, NC_000019.9:g.38946168C>T, NG_008866.1:g.26829C>T, NM_000540.2:c.1654C>T, NM_001042723.1:c.1654C>T, NP_000531.2:p.Arg552Trp, NP_001036188.1:p.Arg552Trp, XM_006723317.1:c.1654C>T, XM_006723319.1:c.1654C>T, XM_011527204.1:c.1651C>T, XM_011527205.1:c.1654C>T, XP_006723380.1:p.Arg552Trp, XP_006723382.1:p.Arg552Trp, XP_011525506.1:p.Arg551Trp, XP_011525507.1:p.Arg552Trp
C > T
SNP
R552W
rs193922772 NC_000019.10:g.38457546G>A, NC_000019.10:g.38457546G>T, NC_000019.9:g.38948186G>A, NC_000019.9:g.38948186G>T, NG_008866.1:g.28847G>A, NG_008866.1:g.28847G>T, NM_000540.2:c.1841G>A, NM_000540.2:c.1841G>T, NM_001042723.1:c.1841G>A, NM_001042723.1:c.1841G>T, NP_000531.2:p.Arg614His, NP_000531.2:p.Arg614Leu, NP_001036188.1:p.Arg614His, NP_001036188.1:p.Arg614Leu, XM_006723317.1:c.1841G>A, XM_006723317.1:c.1841G>T, XM_006723319.1:c.1841G>A, XM_006723319.1:c.1841G>T, XM_011527204.1:c.1838G>A, XM_011527204.1:c.1838G>T, XM_011527205.1:c.1841G>A, XM_011527205.1:c.1841G>T, XP_006723380.1:p.Arg614His, XP_006723380.1:p.Arg614Leu, XP_006723382.1:p.Arg614His, XP_006723382.1:p.Arg614Leu, XP_011525506.1:p.Arg613His, XP_011525506.1:p.Arg613Leu, XP_011525507.1:p.Arg614His, XP_011525507.1:p.Arg614Leu
G > A
G > T
SNP
R614H/L
rs193922802 NC_000019.10:g.38499655G>A, NC_000019.9:g.38990295G>A, NG_008866.1:g.70956G>A, NM_000540.2:c.7048G>A, NM_001042723.1:c.7048G>A, NP_000531.2:p.Ala2350Thr, NP_001036188.1:p.Ala2350Thr, XM_006723317.1:c.7048G>A, XM_006723319.1:c.7048G>A, XM_011527204.1:c.7045G>A, XM_011527205.1:c.7048G>A, XP_006723380.1:p.Ala2350Thr, XP_006723382.1:p.Ala2350Thr, XP_011525506.1:p.Ala2349Thr, XP_011525507.1:p.Ala2350Thr
G > A
SNP
A2350T
No VIP available CA No Variant Annotations available
rs193922803 NC_000019.10:g.38499670C>T, NC_000019.9:g.38990310C>T, NG_008866.1:g.70971C>T, NM_000540.2:c.7063C>T, NM_001042723.1:c.7063C>T, NP_000531.2:p.Arg2355Trp, NP_001036188.1:p.Arg2355Trp, XM_006723317.1:c.7063C>T, XM_006723319.1:c.7063C>T, XM_011527204.1:c.7060C>T, XM_011527205.1:c.7063C>T, XP_006723380.1:p.Arg2355Trp, XP_006723382.1:p.Arg2355Trp, XP_011525506.1:p.Arg2354Trp, XP_011525507.1:p.Arg2355Trp
C > T
SNP
R2355W
rs193922807 NC_000019.10:g.38499731G>C, NC_000019.9:g.38990371G>C, NG_008866.1:g.71032G>C, NM_000540.2:c.7124G>C, NM_001042723.1:c.7124G>C, NP_000531.2:p.Gly2375Ala, NP_001036188.1:p.Gly2375Ala, XM_006723317.1:c.7124G>C, XM_006723319.1:c.7124G>C, XM_011527204.1:c.7121G>C, XM_011527205.1:c.7124G>C, XP_006723380.1:p.Gly2375Ala, XP_006723382.1:p.Gly2375Ala, XP_011525506.1:p.Gly2374Ala, XP_011525507.1:p.Gly2375Ala
G > C
SNP
G2375A
rs193922809 NC_000019.10:g.38499975G>A, NC_000019.9:g.38990615G>A, NG_008866.1:g.71276G>A, NM_000540.2:c.7282G>A, NM_001042723.1:c.7282G>A, NP_000531.2:p.Ala2428Thr, NP_001036188.1:p.Ala2428Thr, XM_006723317.1:c.7282G>A, XM_006723319.1:c.7282G>A, XM_011527204.1:c.7279G>A, XM_011527205.1:c.7282G>A, XP_006723380.1:p.Ala2428Thr, XP_006723382.1:p.Ala2428Thr, XP_011525506.1:p.Ala2427Thr, XP_011525507.1:p.Ala2428Thr
G > A
SNP
A2428T
rs193922816 NC_000019.10:g.38500642C>T, NC_000019.9:g.38991282C>T, NG_008866.1:g.71943C>T, NM_000540.2:c.7360C>T, NM_001042723.1:c.7360C>T, NP_000531.2:p.Arg2454Cys, NP_001036188.1:p.Arg2454Cys, XM_006723317.1:c.7360C>T, XM_006723319.1:c.7360C>T, XM_011527204.1:c.7357C>T, XM_011527205.1:c.7360C>T, XP_006723380.1:p.Arg2454Cys, XP_006723382.1:p.Arg2454Cys, XP_011525506.1:p.Arg2453Cys, XP_011525507.1:p.Arg2454Cys
C > T
SNP
R2454C
rs193922818 NC_000019.10:g.38500899G>A, NC_000019.9:g.38991539G>A, NG_008866.1:g.72200G>A, NM_000540.2:c.7523G>A, NM_001042723.1:c.7523G>A, NP_000531.2:p.Arg2508His, NP_001036188.1:p.Arg2508His, XM_006723317.1:c.7523G>A, XM_006723319.1:c.7523G>A, XM_011527204.1:c.7520G>A, XM_011527205.1:c.7523G>A, XP_006723380.1:p.Arg2508His, XP_006723382.1:p.Arg2508His, XP_011525506.1:p.Arg2507His, XP_011525507.1:p.Arg2508His
G > A
SNP
R2508H
rs193922876 NC_000019.10:g.38580114C>T, NC_000019.9:g.39070754C>T, NG_008866.1:g.151415C>T, NM_000540.2:c.14497C>T, NM_001042723.1:c.14482C>T, NP_000531.2:p.His4833Tyr, NP_001036188.1:p.His4828Tyr, XM_006723317.1:c.14479C>T, XM_006723319.1:c.14464C>T, XM_011527204.1:c.14494C>T, XM_011527205.1:c.14410C>T, XP_006723380.1:p.His4827Tyr, XP_006723382.1:p.His4822Tyr, XP_011525506.1:p.His4832Tyr, XP_011525507.1:p.His4804Tyr
C > T
SNP
H4833Y
rs193922878 NC_000019.10:g.38580370C>G, NC_000019.9:g.39071010C>G, NG_008866.1:g.151671C>G, NM_000540.2:c.14512C>G, NM_001042723.1:c.14497C>G, NP_000531.2:p.Leu4838Val, NP_001036188.1:p.Leu4833Val, XM_006723317.1:c.14494C>G, XM_006723319.1:c.14479C>G, XM_011527204.1:c.14509C>G, XM_011527205.1:c.14425C>G, XP_006723380.1:p.Leu4832Val, XP_006723382.1:p.Leu4827Val, XP_011525506.1:p.Leu4837Val, XP_011525507.1:p.Leu4809Val
C > G
SNP
L4838V
rs28933396 NC_000019.10:g.38499997G>A, NC_000019.10:g.38499997G>T, NC_000019.9:g.38990637G>A, NC_000019.9:g.38990637G>T, NG_008866.1:g.71298G>A, NG_008866.1:g.71298G>T, NM_000540.2:c.7304G>A, NM_000540.2:c.7304G>T, NM_001042723.1:c.7304G>A, NM_001042723.1:c.7304G>T, NP_000531.2:p.Arg2435His, NP_000531.2:p.Arg2435Leu, NP_001036188.1:p.Arg2435His, NP_001036188.1:p.Arg2435Leu, XM_006723317.1:c.7304G>A, XM_006723317.1:c.7304G>T, XM_006723319.1:c.7304G>A, XM_006723319.1:c.7304G>T, XM_011527204.1:c.7301G>A, XM_011527204.1:c.7301G>T, XM_011527205.1:c.7304G>A, XM_011527205.1:c.7304G>T, XP_006723380.1:p.Arg2435His, XP_006723380.1:p.Arg2435Leu, XP_006723382.1:p.Arg2435His, XP_006723382.1:p.Arg2435Leu, XP_011525506.1:p.Arg2434His, XP_011525506.1:p.Arg2434Leu, XP_011525507.1:p.Arg2435His, XP_011525507.1:p.Arg2435Leu
G > A
SNP
R2435H
rs28933397 NC_000019.10:g.38500654C>T, NC_000019.9:g.38991294C>T, NG_008866.1:g.71955C>T, NM_000540.2:c.7372C>T, NM_001042723.1:c.7372C>T, NP_000531.2:p.Arg2458Cys, NP_001036188.1:p.Arg2458Cys, XM_006723317.1:c.7372C>T, XM_006723319.1:c.7372C>T, XM_011527204.1:c.7369C>T, XM_011527205.1:c.7372C>T, XP_006723380.1:p.Arg2458Cys, XP_006723382.1:p.Arg2458Cys, XP_011525506.1:p.Arg2457Cys, XP_011525507.1:p.Arg2458Cys
C > T
SNP
R2458C
rs63749869 NC_000019.10:g.38580440G>A, NC_000019.9:g.39071080G>A, NG_008866.1:g.151741G>A, NM_000540.2:c.14582G>A, NM_001042723.1:c.14567G>A, NP_000531.2:p.Arg4861His, NP_001036188.1:p.Arg4856His, XM_006723317.1:c.14564G>A, XM_006723319.1:c.14549G>A, XM_011527204.1:c.14579G>A, XM_011527205.1:c.14495G>A, XP_006723380.1:p.Arg4855His, XP_006723382.1:p.Arg4850His, XP_011525506.1:p.Arg4860His, XP_011525507.1:p.Arg4832His
G > A
SNP
R4861H
Alleles, Functions, and Amino Acid Translations are all sourced from dbSNP 147

Overview

Generic Names
  • Desflurano [INN-Spanish]
  • Desfluranum [INN-Latin]
Trade Names
  • Suprane
Brand Mixture Names

PharmGKB Accession Id

PA164749136

Type(s):

Drug

Description

Desflurane is a highly fluorinated methyl ethyl ether used for maintenance of general anaesthesia. Volatile agents such as desflurane may activate GABA channels and hyperpolarize cell membranes. In addition, they may inhibit certain calcium channels and therefore prevent release of neurotransmitters and inhibit glutamate channels. Volatile anesthetics easily partition into cellular membranes and could expand the volume of the cell membrane and subsequently distort channels necessary for sodium ion flux and the development of action potentials necessary for synaptic transmission. Desflurane preconditions human myocardium against ischemia through activation of mitochondrial K(ATP) channels, adenosine A1 receptor, and alpha and beta adrenoceptors.

Source: Drug Bank

Indication

For use as an inhalation agent for induction and/or maintenance of anesthesia for inpatient and outpatient surgery in adults.

Source: Drug Bank

Other Vocabularies

Information pulled from DrugBank has not been reviewed by PharmGKB.

Pharmacology, Interactions, and Contraindications

Mechanism of Action

Desflurane induces a reduction in junctional conductance by decreasing gap junction channel opening times and increasing gap junction channel closing times. Desflurane also activates calcium dependent ATPase in the sarcoplasmic reticulum by increasing the fluidity of the lipid membrane. It also appears to bind the D subunit of ATP synthase and NADH dehydogenase. Desflurane also binds to and agonizes the GABA receptor, the large conductance Ca 2+ activated potassium channel, the glycine receptors, and antagonizes the glutamate receptors.

Source: Drug Bank

Pharmacology

Desflurane is a general inhalation anesthetic. It induces muscle relaxation and reduces pains sensitivity by altering tissue excitability. It does so by decreasing the extent of gap junction mediated cell-cell coupling and altering the activity of the channels that underlie the action potential.

Source: Drug Bank

Absorption, Distribution, Metabolism, Elimination & Toxicity

Biotransformation

Minimally biotransformed in the liver in humans (approximately 0.02% of the quantity absorbed).

Source: Drug Bank

Absorption

Rapidly absorbed into the circulation via the lungs following inhalation.

Source: Drug Bank

Chemical Properties

Chemical Formula

C3H2F6O

Source: Drug Bank

Isomeric SMILES

C(C(F)(F)F)(OC(F)F)F

Source: OpenEye

Canonical SMILES

FC(F)OC(F)C(F)(F)F

Source: Drug Bank

Average Molecular Weight

168.0378

Source: Drug Bank

Monoisotopic Molecular Weight

168.000983916

Source: Drug Bank

SMILES

FC(F)OC(F)C(F)(F)F

Source: Drug Bank

InChI String

InChI=1S/C3H2F6O/c4-1(3(7,8)9)10-2(5)6/h1-2H

Source: Drug Bank

PharmGKB Curated Pathways

Pathways created internally by PharmGKB based primarily on literature evidence.

Genes that are associated with this drug in PharmGKB's database based on (1) variant annotations, (2) literature review, (3) pathways or (4) information automatically retrieved from DrugBank, depending on the "evidence" and "source" listed below.

Curated Information ?

Drug Targets

Gene Description
ATP2C1 (source: Drug Bank )
ATP5D (source: Drug Bank )
GABRA1 (source: Drug Bank )
GLRA1 (source: Drug Bank )
GRIA1 (source: Drug Bank )
KCNA1 (source: Drug Bank )
MT-ND1 (source: Drug Bank )
No related drugs are available.

Curated Information ?

Relationships from National Drug File - Reference Terminology (NDF-RT)

May Treat
May Prevent
Induces
Contraindicated With

Publications related to desflurane: 116

No Dosing Guideline available No Drug Label available CA No Variant Annotation available No VIP available No VIP available
Neuromuscular conditions associated with malignant hyperthermia in paediatric patients: A 25-year retrospective study. Neuromuscular disorders : NMD. 2016. Bamaga Ahmed K, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available VIP No VIP available
PharmGKB Summary: very important pharmacogene information for RYR1. Pharmacogenetics and genomics. 2015. Alvarellos Maria L, et al. PubMed
No Dosing Guideline available No Drug Label available CA No Variant Annotation available No VIP available No VIP available
Several Ryanodine Receptor Type 1 Gene Mutations of p.Arg2508 Are Potential Sources of Malignant Hyperthermia. Anesthesia and analgesia. 2015. Miyoshi Hirotsugu, 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
European Malignant Hyperthermia Group guidelines for investigation of malignant hyperthermia susceptibility. British journal of anaesthesia. 2015. Hopkins P M, et al. PubMed
No Dosing Guideline available No Drug Label available CA No Variant Annotation available No VIP available No VIP available
RYR1-related myopathies: a wide spectrum of phenotypes throughout life. European journal of neurology. 2015. Snoeck M, et al. PubMed
No Dosing Guideline available No Drug Label available CA No Variant Annotation available 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 No Variant Annotation available No VIP available No VIP available
Next-generation Sequencing of RYR1 and CACNA1S in Malignant Hyperthermia and Exertional Heat Illness. Anesthesiology. 2015. Fiszer Dorota, et al. PubMed
No Dosing Guideline available No Drug Label available CA No Variant Annotation available No VIP available No VIP available
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. Anaesthesia and intensive care. 2015. Gillies R L, et al. PubMed
No Dosing Guideline available No Drug Label available CA No Variant Annotation available 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 VIP No VIP available
Malignant hyperthermia: a review. Orphanet journal of rare diseases. 2015. Rosenberg Henry, et al. PubMed
No Dosing Guideline available No Drug Label available CA No Variant Annotation available 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 No Variant Annotation available 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 No Variant Annotation available No VIP available No VIP available
Improving awareness of nonanesthesia-related malignant hyperthermia presentations: a tale of two brothers. A & A case reports. 2014. Potts Lauren E, et al. PubMed
No Dosing Guideline available No Drug Label available CA No Variant Annotation available 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 CA 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 CA VA No VIP available No VIP available
Difficult diagnosis of malignant hyperthermia during laparoscopic surgery. European journal of anaesthesiology. 2013. Freiermuth David, et al. PubMed
No Dosing Guideline available No Drug Label available CA No Variant Annotation available No VIP available No VIP available
Mutations in RYR1 are a common cause of exertional myalgia and rhabdomyolysis. Neuromuscular disorders : NMD. 2013. Dlamini N, et al. PubMed
No Dosing Guideline available No Drug Label available CA No Variant Annotation available 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 No Variant Annotation available 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 No Variant Annotation available No VIP available No VIP available
Novel double and single ryanodine receptor 1 variants in two Austrian malignant hyperthermia families. Anesthesia and analgesia. 2012. Kaufmann Alexius, et al. PubMed
No Dosing Guideline available No Drug Label available CA No Variant Annotation available 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 CA No Variant Annotation available No VIP available No VIP available
Screening of the ryanodine 1 gene for malignant hyperthermia causative mutations by high resolution melt curve analysis. Anesthesia and analgesia. 2011. Broman Marcus, et al. PubMed
No Dosing Guideline available No Drug Label available CA No Variant Annotation available 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 No Variant Annotation available 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 No Variant Annotation available No VIP available No VIP available
RYR1-related central core myopathy in a Chinese adolescent boy. Hong Kong medical journal = Xianggang yi xue za zhi / Hong Kong Academy of Medicine. 2011. Chan B, et al. PubMed
No Dosing Guideline available No Drug Label available CA No Variant Annotation available No VIP available No VIP available
Genetic variation in RYR1 and malignant hyperthermia phenotypes. British journal of anaesthesia. 2009. Carpenter D, et al. PubMed
No Dosing Guideline available No Drug Label available CA No Variant Annotation available No VIP available No VIP available
Mutation screening of the RYR1-cDNA from peripheral B-lymphocytes in 15 Swedish malignant hyperthermia index cases. British journal of anaesthesia. 2009. Broman M, et al. PubMed
No Dosing Guideline available No Drug Label available CA No Variant Annotation available No VIP available No VIP available
Functional characterization of ryanodine receptor (RYR1) sequence variants using a metabolic assay in immortalized B-lymphocytes. Human mutation. 2009. Zullo Alberto, et al. PubMed
No Dosing Guideline available No Drug Label available CA No Variant Annotation available No VIP available No VIP available
Increasing the number of diagnostic mutations in malignant hyperthermia. Human mutation. 2009. Levano Soledad, 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
Polymorphic drug metabolism in anaesthesia. Current drug metabolism. 2009. Restrepo Juan G, et al. PubMed
No Dosing Guideline available No Drug Label available CA No Variant Annotation available No VIP available No VIP available
Analysis of RYR1 haplotype profile in patients with malignant hyperthermia. Annals of human genetics. 2009. Carpenter D, et al. PubMed
No Dosing Guideline available No Drug Label available CA No Variant Annotation available No VIP available No VIP available
A fulminant malignant hyperthermia episode in a patient with ryanodine receptor gene mutation p.Tyr522Ser. Anesthesia and analgesia. 2008. Girard Thierry, et al. PubMed
No Dosing Guideline available No Drug Label available CA No Variant Annotation available No VIP available No VIP available
Mild clinical and histopathological features in patients who carry the frequent and causative malignant hyperthermia RyR1 mutation p.Thr2206Met. Clinical neuropathology. 2009. Rueffert H, et al. PubMed
No Dosing Guideline available No Drug Label available CA No Variant Annotation available No VIP available No VIP available
Functional analysis of ryanodine receptor type 1 p.R2508C mutation in exon 47. Journal of anesthesia. 2009. Migita Takako, et al. PubMed
No Dosing Guideline available No Drug Label available CA No Variant Annotation available No VIP available No VIP available
A double mutation of the ryanodine receptor type 1 gene in a malignant hyperthermia family with multiminicore myopathy. Journal of clinical neurology (Seoul, Korea). 2008. Jeong Seul-Ki, et al. PubMed
No Dosing Guideline available No Drug Label available CA No Variant Annotation available No VIP available No VIP available
Identification of genetic mutations in Australian malignant hyperthermia families using sequencing of RYR1 hotspots. Anaesthesia and intensive care. 2008. Gillies R L, et al. PubMed
No Dosing Guideline available No Drug Label available CA No Variant Annotation available No VIP available No VIP available
Molecular genetic testing to diagnose malignant hyperthermia susceptibility. Journal of clinical anesthesia. 2008. Girard Thierry, et al. PubMed
No Dosing Guideline available No Drug Label available CA No Variant Annotation available 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 CA No Variant Annotation available No VIP available No VIP available
Malignant hyperthermia susceptibility diagnosed with a family-specific ryanodine receptor gene type 1 mutation. Journal of anesthesia. 2008. Tanabe Takahiro, et al. PubMed
No Dosing Guideline available No Drug Label available CA No Variant Annotation available No VIP available No VIP available
Delayed onset of malignant hyperthermia without creatine kinase elevation in a geriatric, ryanodine receptor type 1 gene compound heterozygous patient. Anesthesiology. 2007. Newmark Jordan L, et al. PubMed
No Dosing Guideline available No Drug Label available CA 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 No Variant Annotation available No VIP available No VIP available
Central core disease due to recessive mutations in RYR1 gene: is it more common than described?. Muscle & nerve. 2007. Kossugue Patrícia M, et al. PubMed
No Dosing Guideline available No Drug Label available CA No Variant Annotation available No VIP available No VIP available
Malignant hyperthermia and central core disease causative mutations in Swedish patients. Acta anaesthesiologica Scandinavica. 2007. Broman M, et al. PubMed
No Dosing Guideline available No Drug Label available CA No Variant Annotation available No VIP available No VIP available
Molecular genetic detection of susceptibility to malignant hyperthermia in Belgian families. Acta anaesthesiologica Belgica. 2007. Heytens L. PubMed
No Dosing Guideline available No Drug Label available CA No Variant Annotation available 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 No Variant Annotation available No VIP available No VIP available
Mutations in RYR1 in malignant hyperthermia and central core disease. Human mutation. 2006. Robinson Rachel, et al. PubMed
No Dosing Guideline available No Drug Label available CA No Variant Annotation available No VIP available No VIP available
Frequency and localization of mutations in the 106 exons of the RYR1 gene in 50 individuals with malignant hyperthermia. Human mutation. 2006. Galli Lucia, et al. PubMed
No Dosing Guideline available No Drug Label available CA No Variant Annotation available No VIP available No VIP available
Malignant hyperthermia in Japan: mutation screening of the entire ryanodine receptor type 1 gene coding region by direct sequencing. Anesthesiology. 2006. Ibarra M Carlos A, et al. PubMed
No Dosing Guideline available No Drug Label available CA No Variant Annotation available No VIP available No VIP available
Perinatal diagnosis of malignant hyperthermia susceptibility. Anesthesiology. 2006. Girard Thierry, et al. PubMed
No Dosing Guideline available No Drug Label available CA No Variant Annotation available No VIP available No VIP available
Central core disease is due to RYR1 mutations in more than 90% of patients. Brain : a journal of neurology. 2006. Wu Shiwen, et al. PubMed
No Dosing Guideline available No Drug Label available CA No Variant Annotation available 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 No Variant Annotation available No VIP available No VIP available
Denaturing high performance liquid chromatography screening of ryanodine receptor type 1 gene in patients with malignant hyperthermia in Taiwan and identification of a novel mutation (Y522C). Anesthesia and analgesia. 2005. Yeh Huei-Ming, et al. PubMed
No Dosing Guideline available No Drug Label available CA No Variant Annotation available No VIP available No VIP available
Correlations between genotype and pharmacological, histological, functional, and clinical phenotypes in malignant hyperthermia susceptibility. Human mutation. 2005. Monnier Nicole, et al. PubMed
No Dosing Guideline available No Drug Label available CA No Variant Annotation available No VIP available No VIP available
Screening of the entire ryanodine receptor type 1 coding region for sequence variants associated with malignant hyperthermia susceptibility in the north american population. Anesthesiology. 2005. Sambuughin Nyamkhishig, et al. PubMed
No Dosing Guideline available No Drug Label available CA No Variant Annotation available 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 No Variant Annotation available No VIP available No VIP available
Spontaneous occurrence of the disposition to malignant hyperthermia. Anesthesiology. 2004. Rueffert Henrik, et al. PubMed
No Dosing Guideline available No Drug Label available CA VA No VIP available No VIP available
RYR1 mutations in UK central core disease patients: more than just the C-terminal transmembrane region of the RYR1 gene. Journal of medical genetics. 2004. Shepherd S, et al. PubMed
No Dosing Guideline available No Drug Label available CA No Variant Annotation available No VIP available No VIP available
Scanning for mutations of the ryanodine receptor (RYR1) gene by denaturing HPLC: detection of three novel malignant hyperthermia alleles. Clinical chemistry. 2003. Tammaro Angela, et al. PubMed
No Dosing Guideline available No Drug Label available CA No Variant Annotation available No VIP available No VIP available
Calcium release from sarcoplasmic reticulum is facilitated in human myotubes derived from carriers of the ryanodine receptor type 1 mutations Ile2182Phe and Gly2375Ala. Genetic testing. 2003. Wehner M, et al. PubMed
No Dosing Guideline available No Drug Label available CA No Variant Annotation available No VIP available No VIP available
Screening for mutations in the RYR1 gene in families with malignant hyperthermia. Journal of molecular neuroscience : MN. 2003. Muniz Viviane P, et al. PubMed
No Dosing Guideline available No Drug Label available CA No Variant Annotation available 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 No Variant Annotation available No VIP available No VIP available
Presence of two different genetic traits in malignant hyperthermia families: implication for genetic analysis, diagnosis, and incidence of malignant hyperthermia susceptibility. Anesthesiology. 2002. Monnier Nicole, et al. PubMed
No Dosing Guideline available No Drug Label available CA No Variant Annotation available No VIP available No VIP available
[Current aspects of the diagnosis of malignant hyperthermia]. Der Anaesthesist. 2002. Rüffert H, et al. PubMed
No Dosing Guideline available No Drug Label available CA No Variant Annotation available No VIP available No VIP available
Evidence for a spontaneous C1840-T mutation in the RYR1 gene after DNA fingerprinting in a malignant hyperthermia susceptible family. Naunyn-Schmiedeberg's archives of pharmacology. 2002. Steinfath Markus, et al. PubMed
No Dosing Guideline available No Drug Label available CA No Variant Annotation available No VIP available No VIP available
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. Cell calcium. 2002. Galli L, et al. PubMed
No Dosing Guideline available No Drug Label available CA No Variant Annotation available No VIP available No VIP available
Results of contracture tests with halothane, caffeine, and ryanodine depend on different malignant hyperthermia-associated ryanodine receptor gene mutations. Anesthesiology. 2002. Fiege Marko, et al. PubMed
No Dosing Guideline available No Drug Label available CA No Variant Annotation available 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 No Variant Annotation available 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 CA No Variant Annotation available No VIP available No VIP available
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. Acta anaesthesiologica Scandinavica. 2002. Rueffert Henrik, et al. PubMed
No Dosing Guideline available No Drug Label available CA No Variant Annotation available No VIP available No VIP available
Novel mutations in C-terminal channel region of the ryanodine receptor in malignant hyperthermia patients. Japanese journal of pharmacology. 2002. Oyamada Hideto, et al. PubMed
No Dosing Guideline available No Drug Label available CA No Variant Annotation available No VIP available No VIP available
Genotype-phenotype comparison of the Swiss malignant hyperthermia population. Human mutation. 2001. Girard T, et al. PubMed
No Dosing Guideline available No Drug Label available CA No Variant Annotation available No VIP available No VIP available
North American malignant hyperthermia population: screening of the ryanodine receptor gene and identification of novel mutations. Anesthesiology. 2001. Sambuughin N, et al. PubMed
No Dosing Guideline available No Drug Label available CA No Variant Annotation available No VIP available No VIP available
Identification and functional characterization of a novel ryanodine receptor mutation causing malignant hyperthermia in North American and South American families. Neuromuscular disorders : NMD. 2001. Sambuughin N, et al. PubMed
No Dosing Guideline available No Drug Label available CA No Variant Annotation available No VIP available No VIP available
Homozygous and heterozygous Arg614Cys mutations (1840C-->T) in the ryanodine receptor gene co-segregate with malignant hyperthermia susceptibility in a German family. British journal of anaesthesia. 2001. Rueffert H, et al. PubMed
No Dosing Guideline available No Drug Label available CA No Variant Annotation available No VIP available No VIP available
Determination of a positive malignant hyperthermia (MH) disposition without the in vitro contracture test in families carrying the RYR1 Arg614Cys mutation. Clinical genetics. 2001. Rueffert H, et al. PubMed
No Dosing Guideline available No Drug Label available CA No Variant Annotation available No VIP available No VIP available
Malignant hyperthermia and apparent heat stroke. JAMA. 2001. Tobin J R, et al. PubMed
No Dosing Guideline available No Drug Label available CA No Variant Annotation available No VIP available No VIP available
Identification of the Arg1086His mutation in the alpha subunit of the voltage-dependent calcium channel (CACNA1S) in a North American family with malignant hyperthermia. Clinical genetics. 2001. Stewart S L, et al. PubMed
No Dosing Guideline available No Drug Label available CA 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 No Variant Annotation available 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 No Variant Annotation available 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 CA No Variant Annotation available No VIP available No VIP available
[Preliminary report: first identification of known mutation in the ryanodine receptor gene in a Japanese malignant hyperthermia pedigree]. Masui. The Japanese journal of anesthesiology. 2000. Ichihara Y, et al. PubMed
No Dosing Guideline available No Drug Label available CA No Variant Annotation available No VIP available No VIP available
Novel mutation in the RYR1 gene (R2454C) in a patient with malignant hyperthermia. Human mutation. 2000. Gencik M, et al. PubMed
No Dosing Guideline available No Drug Label available CA No Variant Annotation available No VIP available No VIP available
Malignant hyperthermia causing Gly2435Arg mutation of the ryanodine receptor facilitates ryanodine-induced calcium release in myotubes. British journal of anaesthesia. 1999. Brinkmeier H, et al. PubMed
No Dosing Guideline available No Drug Label available CA No Variant Annotation available No VIP available No VIP available
Screening of the ryanodine receptor gene in 105 malignant hyperthermia families: novel mutations and concordance with the in vitro contracture test. Human molecular genetics. 1999. Brandt A, et al. PubMed
No Dosing Guideline available No Drug Label available CA No Variant Annotation available No VIP available No VIP available
A mutation in the transmembrane/luminal domain of the ryanodine receptor is associated with abnormal Ca2+ release channel function and severe central core disease. Proceedings of the National Academy of Sciences of the United States of America. 1999. Lynch P J, et al. PubMed
No Dosing Guideline available No Drug Label available CA No Variant Annotation available No VIP available No VIP available
Mutation screening of the RYR1 gene and identification of two novel mutations in Italian malignant hyperthermia families. Journal of medical genetics. 1999. Barone V, et al. PubMed
No Dosing Guideline available No Drug Label available CA No Variant Annotation available No VIP available No VIP available
A case of discordance between genotype and phenotype in a malignant hyperthermia family. European journal of human genetics : EJHG. 1999. Fortunato G, et al. PubMed
No Dosing Guideline available No Drug Label available CA No Variant Annotation available No VIP available No VIP available
Identification of novel mutations in the ryanodine-receptor gene (RYR1) in malignant hyperthermia: genotype-phenotype correlation. American journal of human genetics. 1998. Manning B M, et al. PubMed
No Dosing Guideline available No Drug Label available CA No Variant Annotation available No VIP available No VIP available
Gly341Arg mutation indicating malignant hyperthermia susceptibility: specific cause of chronically elevated serum creatine kinase activity. Journal of the neurological sciences. 1998. Monsieurs K G, et al. PubMed
No Dosing Guideline available No Drug Label available CA No Variant Annotation available No VIP available No VIP available
Discordance between malignant hyperthermia susceptibility and RYR1 mutation C1840T in two Scandinavian MH families exhibiting this mutation. Clinical genetics. 1997. Fagerlund T H, et al. PubMed
No Dosing Guideline available No Drug Label available CA No Variant Annotation available No VIP available No VIP available
Novel mutations at a CpG dinucleotide in the ryanodine receptor in malignant hyperthermia. Human mutation. 1998. Manning B M, et al. PubMed
No Dosing Guideline available No Drug Label available CA No Variant Annotation available No VIP available No VIP available
Caffeine and halothane sensitivity of intracellular Ca2+ release is altered by 15 calcium release channel (ryanodine receptor) mutations associated with malignant hyperthermia and/or central core disease. The Journal of biological chemistry. 1997. Tong J, et al. PubMed
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Detection of a novel mutation at amino acid position 614 in the ryanodine receptor in malignant hyperthermia. British journal of anaesthesia. 1997. Quane K A, et al. PubMed
No Dosing Guideline available No Drug Label available CA No Variant Annotation available No VIP available No VIP available
Malignant-hyperthermia susceptibility is associated with a mutation of the alpha 1-subunit of the human dihydropyridine-sensitive L-type voltage-dependent calcium-channel receptor in skeletal muscle. American journal of human genetics. 1997. Monnier N, et al. PubMed
No Dosing Guideline available No Drug Label available CA No Variant Annotation available No VIP available No VIP available
The G1021A substitution in the RYR1 gene does not cosegregate with malignant hyperthermia susceptibility in a British pedigree. American journal of human genetics. 1997. Adeokun A M, et al. PubMed
No Dosing Guideline available No Drug Label available CA No Variant Annotation available No VIP available No VIP available
Detection of a novel mutation in the ryanodine receptor gene in an Irish malignant hyperthermia pedigree: correlation of the IVCT response with the affected and unaffected haplotypes. Journal of medical genetics. 1997. Keating K E, et al. PubMed
No Dosing Guideline available No Drug Label available CA No Variant Annotation available No VIP available No VIP available
Identification of heterozygous and homozygous individuals with the novel RYR1 mutation Cys35Arg in a large kindred. Anesthesiology. 1997. Lynch P J, et al. PubMed
No Dosing Guideline available No Drug Label available CA No Variant Annotation available No VIP available No VIP available
Malignant hyperthermia susceptibility in a patient with concomitant motor neuron disease. Journal of the neurological sciences. 1996. Monsieurs K G, et al. PubMed
No Dosing Guideline available No Drug Label available CA No Variant Annotation available No VIP available No VIP available
RYR mutation G1021A (Gly341Arg) is not frequent in Danish and Swedish families with malignant hyperthermia susceptibility. Clinical genetics. 1996. Fagerlund T, et al. PubMed
No Dosing Guideline available No Drug Label available CA No Variant Annotation available No VIP available No VIP available
Comparison of the segregation of the RYR1 C1840T mutation with segregation of the caffeine/halothane contracture test results for malignant hyperthermia susceptibility in a large Manitoba Mennonite family. Anesthesiology. 1996. Serfas K D, et al. PubMed
No Dosing Guideline available No Drug Label available CA No Variant Annotation available No VIP available No VIP available
Diagnosis of malignant hyperthermia: a comparison of the in vitro contracture test with the molecular genetic diagnosis in a large pedigree. Journal of medical genetics. 1996. Healy J M, et al. PubMed
No Dosing Guideline available No Drug Label available CA No Variant Annotation available No VIP available No VIP available
Exclusion of defects in the skeletal muscle specific regions of the DHPR alpha 1 subunit as frequent causes of malignant hyperthermia. Journal of medical genetics. 1995. O'Brien R O, et al. PubMed
No Dosing Guideline available No Drug Label available CA No Variant Annotation available No VIP available No VIP available
Genotype and phenotype relationships for mutations in the ryanodine receptor in patients referred for diagnosis of malignant hyperthermia. British journal of anaesthesia. 1995. Fletcher J E, et al. PubMed
No Dosing Guideline available No Drug Label available CA No Variant Annotation available No VIP available No VIP available
A search for three known RYR1 gene mutations in 41 Swedish families with predisposition to malignant hyperthermia. Clinical genetics. 1995. Fagerlund T H, et al. PubMed
No Dosing Guideline available No Drug Label available CA No Variant Annotation available No VIP available No VIP available
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. American journal of human genetics. 1995. Deufel T, et al. PubMed
No Dosing Guideline available No Drug Label available CA No Variant Annotation available No VIP available No VIP available
Ryanodine receptor gene point mutation and malignant hyperthermia susceptibility. Journal of neurology. 1995. Moroni I, et al. PubMed
No Dosing Guideline available No Drug Label available CA No Variant Annotation available No VIP available No VIP available
C1840-T mutation in the human skeletal muscle ryanodine receptor gene: frequency in northern German families susceptible to malignant hyperthermia and the relationship to in vitro contracture response. Journal of molecular medicine (Berlin, Germany). 1995. Steinfath M, et al. PubMed
No Dosing Guideline available No Drug Label available CA No Variant Annotation available No VIP available No VIP available
Search for three known mutations in the RYR1 gene in 48 Danish families with malignant hyperthermia. Clinical genetics. 1994. Fagerlund T, et al. PubMed
No Dosing Guideline available No Drug Label available CA No Variant Annotation available No VIP available No VIP available
Mutation screening of the RYR1 gene in malignant hyperthermia: detection of a novel Tyr to Ser mutation in a pedigree with associated central cores. Genomics. 1994. Quane K A, et al. PubMed
No Dosing Guideline available No Drug Label available CA No Variant Annotation available No VIP available No VIP available
Detection of a novel common mutation in the ryanodine receptor gene in malignant hyperthermia: implications for diagnosis and heterogeneity studies. Human molecular genetics. 1994. Quane K A, et al. PubMed
No Dosing Guideline available No Drug Label available CA No Variant Annotation available No VIP available No VIP available
A mutation in the human ryanodine receptor gene associated with central core disease. Nature genetics. 1993. Zhang Y, et al. PubMed
No Dosing Guideline available No Drug Label available CA No Variant Annotation available No VIP available No VIP available
Mutations in the ryanodine receptor gene in central core disease and malignant hyperthermia. Nature genetics. 1993. Quane K A, et al. PubMed
No Dosing Guideline available No Drug Label available CA No Variant Annotation available No VIP available No VIP available
A cysteine-for-arginine substitution (R614C) in the human skeletal muscle calcium release channel cosegregates with malignant hyperthermia. Anesthesia and analgesia. 1992. Hogan K, et al. PubMed
No Dosing Guideline available No Drug Label available CA No Variant Annotation available 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 No Variant Annotation available 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

Web Resource:
Wikipedia
National Drug Code Directory:
10019-641-24
DrugBank:
DB01189
ChEBI:
4445
KEGG Compound:
C07519
KEGG Drug:
D00546
PubChem Compound:
42113
PubChem Substance:
46505270
9722
Drugs Product Database (DPD):
2227428
ChemSpider:
38403
Therapeutic Targets Database:
DAP000693
FDA Drug Label at DailyMed:
3fe3d468-d283-4dd0-a1a7-29291a9b2d0b

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