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RYR1 Gene

protein-coding   GIFtS: 70
GCID: GC19P038924

Ryanodine Receptor 1 (Skeletal)

(Previous name: central core disease of muscle)
(Previous symbols: MHS, MHS1, CCO)
  See RYR1-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Ryanodine Receptor 1 (Skeletal)1 2     RYR2
CCO1 2 5     SKRR2
MHS1 2 5     Ryanodine Receptor 12
MHS11 2     Sarcoplasmic Reticulum Calcium Release Channel2
Central Core Disease Of Muscle1 2     Type 1-Like Ryanodine Receptor2
Skeletal Muscle Calcium Release Channel2 3     RyR13
Skeletal Muscle Ryanodine Receptor2 3     Skeletal Muscle-Type Ryanodine Receptor3
RYDR2 3     Type 1 Ryanodine Receptor3
RYR-12 3     

External Ids:    HGNC: 104831   Entrez Gene: 62612   Ensembl: ENSG000001962187   OMIM: 1809015   UniProtKB: P218173   

Export aliases for RYR1 gene to outside databases

Previous GC identifers: GC19P039538 GC19P039315 GC19P043600 GC19P043616 GC19P035371


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for RYR1 Gene:
This gene encodes a ryanodine receptor found in skeletal muscle. The encoded protein functions as a calcium
release channel in the sarcoplasmic reticulum but also serves to connect the sarcoplasmic reticulum and
transverse tubule. Mutations in this gene are associated with malignant hyperthermia susceptibility, central core
disease, and minicore myopathy with external ophthalmoplegia. Alternatively spliced transcripts encoding
different isoforms have been described. (provided by RefSeq, Jul 2008)

GeneCards Summary for RYR1 Gene:
RYR1 (ryanodine receptor 1 (skeletal)) is a protein-coding gene. Diseases associated with RYR1 include benign samaritan congenital myopathy, and king denborough syndrome. GO annotations related to this gene include protease binding and calcium ion binding. An important paralog of this gene is RYR2.

UniProtKB/Swiss-Prot: RYR1_HUMAN, P21817
Function: Calcium channel that mediates the release of Ca(2+) from the sarcoplasmic reticulum into the cytoplasm
and thereby plays a key role in triggering muscle contraction following depolarization of T-tubules. Repeated
very high-level exercise increases the open probability of the channel and leads to Ca(2+) leaking into the
cytoplasm. Can also mediate the release of Ca(2+) from intracellular stores in neurons, and may thereby promote
prolonged Ca(2+) signaling in the brain. Required for normal embryonic development of muscle fibers and skeletal
muscle. Required for normal heart morphogenesis, skin development and ossification during embryogenesis (By
similarity)

Gene Wiki entry for RYR1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000019.9  NT_011109.17  NC_018930.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the RYR1 gene promoter:
         AhR   CREB   p53   NRSF form 1   deltaCREB   NRSF form 2   YY1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidRYR1 promoter sequence
   Search Chromatin IP Primers for RYR1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat RYR1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 19q13.1   Ensembl cytogenetic band:  19q13.2   HGNC cytogenetic band: 19q13.1

RYR1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
RYR1 gene location

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19P038924:  view genomic region     (about GC identifiers)

Start:
38,924,339 bp from pter      End:
39,078,204 bp from pter
Size:
153,866 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: RYR1_HUMAN, P21817 (See protein sequence)
Recommended Name: Ryanodine receptor 1  
Size: 5038 amino acids; 565176 Da
Subunit: Homotetramer. Can also form heterotetramers with RYR2. Interacts with CALM; CALM with bound calcium
inhibits the RYR1 channel activity. Interacts with S100A1. Interacts with FKBP1A; this stabilizes the closed
conformation of the channel. Interacts with CACNA1S; interaction with CACNA1S is important for activation of the
RYR1 channel. Interacts with CACNB1. Interacts with TRDN and ASPH; these interactions stimulate RYR1 channel
activity (By similarity). Identified in a complex composed of RYR1, PDE4D, PKA, FKBP1A and protein phosphatase 1
(PP1). Repeated very high-level exercise decreases interaction with PDE4D and protein phosphatase 1 (PP1)
Miscellaneous: Channel activity is modulated by the alkaloid ryanodine that binds to the open Ca-release channel
with high affinity. At low concentrations, ryanodine maintains the channel in an open conformation. High
ryanodine concentrations inhibit channel activity. Channel activity is regulated by calmodulin (CALM). The
calcium release is activated by increased cytoplasmic calcium levels, by nitric oxyde (NO), caffeine and ATP.
Channel activity is inhibited by magnesium ions, possibly by competition for calcium binding sites (By
similarity)
Miscellaneous: Coexpression of normal and mutant Thr-4898 RYR1 in a 1:1 ratio, produces RYR1 channels with normal
halothane and caffeine sensitivities, but maximal levels of Ca(2+) release are reduced by 67%. Binding of
[3H]ryanodine indicates that the heterozygous channel is activated by Ca(2+) concentrations 4-fold lower than
normal. Single-cell analysis of cotransfected cells shows a significantly increased resting cytoplasmic Ca(2+)
level and a significantly reduced luminal Ca(2+) level. These data indicated a leaky channel, possibly caused by
a reduction in the Ca(2+) concentration required for channel activation. Comparison with 2 other coexpressed
mutant/normal channels suggests that the Thr-4898 mutation produces one of the most abnormal RYR1 channels that
has been investigated, and this level of abnormality is reflected in the severe and penetrant phenotype of
affected CCD individuals
Secondary accessions: Q16314 Q16368 Q9NPK1 Q9P1U4
Alternative splicing: 3 isoforms:  P21817-1   P21817-2   P21817-3   

Explore the universe of human proteins at neXtProt for RYR1: NX_P21817

Explore proteomics data for RYR1 at MOPED

Post-translational modifications: 

  • Channel activity is modulated by phosphorylation. Phosphorylation at Ser-2843 may increase channel activity.
    Repeated very high-level exercise increases phosphorylation at Ser-28431
  • Activated by reversible S-nitrosylation. Repeated very high-level exercise increases S-nitrosylation1
  • Ubiquitination2 at Lys2069
  • Modification sites at PhosphoSitePlus

  • See RYR1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_000531.2  NP_001036188.1  

    ENSEMBL proteins: 
     ENSP00000347667   ENSP00000352608   ENSP00000470927   ENSP00000471601   ENSP00000472497  
     ENSP00000470848   ENSP00000471404   ENSP00000472126   ENSP00000354254  
    Reactome Protein details: P21817

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    RYR: Ion channels / Ryanodine receptors

    IUPHAR Guide to PHARMACOLOGY protein family classification: RyR1
    Ryanodine receptor

    Selected InterPro protein domains (see all 14):
     IPR014821 Ins145_P3_rcpt
     IPR003032 Ryanodine_rcpt
     IPR001870 B30.2/SPRY
     IPR011992 EF-hand-dom_pair
     IPR013662 RIH_assoc-dom

    Graphical View of Domain Structure for InterPro Entry P21817

    ProtoNet protein and cluster: P21817

    5 Blocks protein domains:
    IPB000699 Intracellular calcium-release channel
    IPB003608 MIR domain
    IPB009460 Ryanodine Receptor TM 4-6
    IPB013333 Ryanodine receptor signature
    IPB013662 RyR and IP3R Homology associated


    UniProtKB/Swiss-Prot: RYR1_HUMAN, P21817
    Domain: The calcium release channel activity resides in the C-terminal region while the remaining part of the
    protein constitutes the 'foot' structure spanning the junctional gap between the sarcoplasmic reticulum (SR) and
    the T-tubule (By similarity)
    Similarity: Belongs to the ryanodine receptor (TC 1.A.3.1) family. RYR1 subfamily
    Similarity: Contains 3 B30.2/SPRY domains
    Similarity: Contains 5 MIR domains


    Find genes that share domains with RYR1           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: RYR1_HUMAN, P21817
    Function: Calcium channel that mediates the release of Ca(2+) from the sarcoplasmic reticulum into the cytoplasm
    and thereby plays a key role in triggering muscle contraction following depolarization of T-tubules. Repeated
    very high-level exercise increases the open probability of the channel and leads to Ca(2+) leaking into the
    cytoplasm. Can also mediate the release of Ca(2+) from intracellular stores in neurons, and may thereby promote
    prolonged Ca(2+) signaling in the brain. Required for normal embryonic development of muscle fibers and skeletal
    muscle. Required for normal heart morphogenesis, skin development and ossification during embryogenesis (By
    similarity)

         Genatlas biochemistry entry for RYR1:
    ryanodine receptor 1,controlling intracellular Ca2+ levels by releasing Ca2+ from the sarcoplasmic
    reticulum,expressed in skeletal and cardiac muscle,and involved in the control of cellular activities of B
    cells,triggered by the dehydrine receptor(s)

         Gene Ontology (GO): Selected molecular function terms (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0002020protease binding IEA--
    GO:0005216ion channel activity ----
    GO:0005219ryanodine-sensitive calcium-release channel activity TAS19095005
    GO:0005245voltage-gated calcium channel activity ISS--
    GO:0005262calcium channel activity ISS--
         
    Find genes that share ontologies with RYR1           About GenesLikeMe


    Phenotypes:
         15 MGI mutant phenotypes (inferred from 10 alleles(MGI details for Ryr1):
     adipose tissue  behavior/neurological  cardiovascular system  cellular  craniofacial 
     digestive/alimentary  growth/size/body  homeostasis/metabolism  integument  limbs/digits/tail 
     mortality/aging  muscle  other  respiratory system  skeleton 

    Find genes that share phenotypes with RYR1           About GenesLikeMe

    Animal Models:
         MGI mouse knock-outs for RYR1: Ryr1tm1Alle Ryr1tm1Tno

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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    RYR1_HUMAN, P21817: Sarcoplasmic reticulum membrane; Multi-pass membrane protein. Membrane; Multi-pass membrane
    protein (Probable). Note=The number of predicted transmembrane domains varies between orthologs, but both
    N-terminus and C-terminus seem to be cytoplasmic
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endoplasmic reticulum5
    plasma membrane4
    cytosol2
    extracellular2
    mitochondrion2
    cytoskeleton1
    nucleus1

    Gene Ontology (GO): Selected cellular component terms (see all 16):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IDA11206130
    GO:0005790smooth endoplasmic reticulum TAS2298749
    GO:0005886plasma membrane IDA11206130
    GO:0005887integral component of plasma membrane TAS2298749
    GO:0005938cell cortex IDA11206130

    Find genes that share ontologies with RYR1           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for RYR1 About   (see all 18)  
    See pathways by source

    SuperPathContained pathways About
    1Activation of cAMP-Dependent PKA
    Activation of cAMP-Dependent PKA0.77
    Activation of PKA through GPCR0.71
    cAMP Pathway0.77
    PKA Signaling0.56
    2Ion channel transport
    Ion channel transport0.58
    Stimuli-sensing channels0.58
    3Myometrial Relaxation and Contraction Pathways
    Myometrial Relaxation and Contraction Pathways0.43
    Calcium Regulation in the Cardiac Cell0.43
    4CREB Pathway
    Intracellular Calcium Signaling0.50
    5Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds
    Transmembrane transport of small molecules0.47


    Find genes that share SuperPaths with RYR1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    Selected Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for RYR1 (see all 9)
        Activation of PKA through GPCR
    PKA Signaling
    Netrin Signaling
    Presenilin-Mediated Signaling
    nNOS Signaling in Skeletal Muscle

    1 Cell Signaling Technology (CST) Pathway for RYR1
        Ca, cAMP and Lipid Signaling

    4 GeneGo (Thomson Reuters) Pathways for RYR1
        G-protein signaling G-Protein alpha-s signaling cascades
    Signal transduction cAMP signaling
    Signal transduction PKA signaling
    Signal transduction Calcium signaling

    2 BioSystems Pathways for RYR1
        Myometrial Relaxation and Contraction Pathways
    Calcium Regulation in the Cardiac Cell

    1 Reactome Pathway for RYR1
        Stimuli-sensing channels


    4 Kegg Pathways  (Kegg details for RYR1):
        Calcium signaling pathway
    Circadian entrainment
    Long-term depression
    Oxytocin signaling pathway

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for RYR1
    Interactions:

        GeneGlobe Interaction Network for RYR1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for RYR1 (P218171, 2, 3 ENSP000003526084) via UniProtKB, MINT, STRING, and/or I2D (see all 58)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PLCG1P191742, 3, ENSP000002440074MINT-8112747 I2D: score=3 STRING: ENSP00000244007
    H2AFZP0C0S52, 3MINT-19797 I2D: score=1 
    CALM1P621583, ENSP000003494674I2D: score=1 STRING: ENSP00000349467
    CALM2P621583I2D: score=1 
    CALM3P621583I2D: score=1 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 17):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001666response to hypoxia IDA19120137
    GO:0003151outflow tract morphogenesis ISS--
    GO:0006811ion transport ----
    GO:0006816calcium ion transport ISS--
    GO:0006874cellular calcium ion homeostasis ----

    Find genes that share ontologies with RYR1           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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      Browse compounds at ApexBio 

    Compounds for RYR1 available from Tocris Bioscience    About this table
    CompoundAction CAS #
    (-)-Xestospongin CInhibits IP3-mediated Ca2+ release[88903-69-9]
    trans-Ned 19NAADP antagonist; inhibits Ca2+ release[1354235-96-3]
    Ionomycin calcium saltCalcium ionophore[56092-82-1]
    NAADP tetrasodium saltCa2+ mobilizing agent[5502-96-5]
    RyanodineCa2+ release inhibitor[15662-33-6]

    2 HMDB Compounds for RYR1    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--
    MagnesiumMagnesium (see all 2)7439-95-4--

    3 DrugBank Compounds for RYR1    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    DantroleneDantrolene Sodium (see all 3)7261-97-4targetantagonist15023108 7488490 12167662 6704779 16945924 12666006 11752352 7362049 9924249
    CaffeineCafeina (see all 7)58-08-2target--17514358
    SuraminBayer 205 (see all 6)145-63-1targetagonist16056233

    9 IUPHAR Ligands for RYR1 (RyR1)    About this table
    LigandTypeActionAffinityPubmed IDs
    ATP
    ActivatorNone--
    ryanodine
    Channel blockerNone--
    suramin
    ActivatorNone--
    procaine
    Channel blockerNone--
    caffeine
    ActivatorNone--
    Ca2+
    AntagonistAntagonist--
    ruthenium red
    Channel blockerNone--
    Mg2+
    AntagonistAntagonist--
    dantrolene
    AntagonistAntagonist--

    Selected Novoseek inferred chemical compound relationships for RYR1 gene (see all 98)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    ryanodine 98.3 1193 11226332 (5), 12151923 (4), 18353852 (4), 19802526 (4) (see all 99)
    4-chloro-m-cresol 90.6 79 12761215 (10), 16737973 (7), 16601083 (7), 11990295 (3) (see all 23)
    dihydropyridine 88.3 124 11179064 (4), 16302848 (2), 16357209 (2), 18556650 (2) (see all 71)
    calcium 84 1057 19767002 (8), 11964231 (6), 11232598 (5), 11741831 (5) (see all 99)
    pcb 95 83.8 5 19337518 (1)
    caffeine 83.7 109 12151923 (3), 11477079 (3), 11990295 (3), 11360934 (2) (see all 66)
    cyclic adp-ribose 81.2 77 7826401 (4), 12966165 (3), 7925959 (3), 17190906 (2) (see all 28)
    inositol 1,4,5 trisphosphate 78.2 43 18174159 (2), 12921667 (2), 15160398 (1), 15212806 (1) (see all 37)
    dantrolene 77.3 32 12167662 (3), 11585849 (2), 16945924 (2), 15160398 (1) (see all 21)
    ryanodol 76.3 2 10871634 (1), 11331348 (1)

    9 PharmGKB related drug/compound annotations for RYR1 gene    About this table
    Drug/compound PharmGKB Annotation
    desfluraneCA  
    enfluraneCA  
    etherCA  
    halothaneCA  
    hmg coa reductase inhibitorsCA  
    isofluraneCA  
    methoxyfluraneCA  
    sevofluraneCA  
    succinylcholine  CA  



    Find genes that share compounds with RYR1           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for RYR1 gene (2 alternative transcripts): 
    NM_000540.2  NM_001042723.1  

    Unigene Cluster for RYR1:

    Ryanodine receptor 1 (skeletal)
    Hs.466664  [show with all ESTs]
    Unigene Representative Sequence: NM_000540
    11 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000355481(uc002oiu.3) ENST00000359596(uc002oit.3) ENST00000594111
    ENST00000594335 ENST00000599547 ENST00000600337 ENST00000601514 ENST00000596431
    ENST00000593322 ENST00000593677 ENST00000360985(uc002oiv.1 uc010xuf.1)

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    OriGene qSTAR qPCR primer pairs in human, mouse for RYR1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat RYR1
      QuantiTect SYBR Green Assays in human, mouse, rat RYR1
      QuantiFast Probe-based Assays in human, mouse, rat RYR1

    Additional mRNA sequence: 

    AB209425.1 AF075460.1 AK293785.1 J05200.1 

    10 DOTS entries:

    DT.113052  DT.100019702  DT.121502810  DT.100748838  DT.121502805  DT.65286971  DT.75101790  DT.97788775 
    DT.40260655  DT.91978919 

    Selected AceView cDNA sequences (see all 107):

    BQ962760 BG830167 F31264 AF075460 F34300 F36856 BE764223 NM_000540 
    BM805728 BE764184 BQ185433 AA808825 CB129444 F21877 BQ189108 F15827 
    CA427848 F34519 F24310 J05200 BX283152 BF036839 BE764181 BE764241 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for RYR1 (see all 8)    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23 ^ 24 ^ 25 ^ 26 ^
    SP1:                                                                                                                                                            
    SP2:                                                                                                                                                            
    SP3:                                                                                                                                                            
    SP4:                                                                                                                                                            
    SP5:                                                                                                                                                            

    ExUns: 27 ^ 28 ^ 29 ^ 30 ^ 31 ^ 32 ^ 33 ^ 34 ^ 35 ^ 36a · 36b ^ 37a · 37b ^ 38 ^ 39 ^ 40 ^ 41 ^ 42 ^ 43 ^ 44 ^ 45 ^ 46 ^ 47 ^ 48 ^ 49 ^ 50 ^
    SP1:                                                                          -                                                                                 
    SP2:                                                                                                                                                            
    SP3:                                                                                                                                                            
    SP4:                                                                                                                                                            
    SP5:                                                                                                                                                            

    ExUns: 51 ^ 52 ^ 53 ^ 54 ^ 55 ^ 56 ^ 57 ^ 58a · 58b ^ 59 ^ 60 ^ 61a · 61b · 61c ^ 62 ^ 63 ^ 64 ^ 65 ^ 66 ^ 67 ^ 68 ^ 69 ^ 70
    SP1:                                                                                                                                          
    SP2:                                                                                                                                          
    SP3:                                                                                                                                          
    SP4:                                                                                                                                          
    SP5:                                                                                                                                          


    ECgene alternative splicing isoforms for RYR1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

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    RYR1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTTTTCCTGA
    RYR1 Expression
    About this image


    RYR1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 3) fully expand
     
     Skeletal Muscle (Muscoskeletal System)    fully expand to see all 2 entries
             Mononuclear Myocytes Hyoid Arch Muscles
     
     Adipose (Muscoskeletal System)
             Interscapular Brown Adipose Depot
     
     Larynx (Respiratory System)
    RYR1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    RYR1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.466664

    UniProtKB/Swiss-Prot: RYR1_HUMAN, P21817
    Tissue specificity: Skeletal muscle and brain (cerebellum and hippocampus)

        Custom PCR Arrays for RYR1
    Primer
    Products:
    OriGene qSTAR qPCR primer pairs in human, mouse for RYR1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat RYR1
    QuantiTect SYBR Green Assays in human, mouse, rat RYR1
    QuantiFast Probe-based Assays in human, mouse, rat RYR1
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RYR1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for RYR1 gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ryr11 , 5 ryanodine receptor 1, skeletal muscle1, 5 88.23(n)1
    95.56(a)1
      7 (16.94 cM)5
    201901  NM_009109.21  NP_033135.21 
     290033405 
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    (see all 3)
    Uncharacterized protein
    (see all 3)
    85(a)
    84(a)
    (see all 3)
    many → 1
    many → 1
    (see all 3)
    GL343427.1(594163-627241)
    GL343427.1(685880-727627)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.133032 Transcribed sequence with strong similarity to protein more 85.53(n)    BX726845.1 
    zebrafish
    (Danio rerio)
    Actinopterygii ryr1b6
    ryr1a6
    ryanodine receptor 1a (skeletal)
    76(a)
    76(a)
    many → 1
    many → 1
    18(33835785-34021041) ENSDARG00000023797
    10(34434994-34568619) ENSDARG00000011422
    wheat
    (Triticum aestivum)
    Liliopsida Ta.92692 Triticum aestivum transcribed sequence with weak similarity more 72.17(n)    BQ838200.1 


    ENSEMBL Gene Tree for RYR1 (if available)
    TreeFam Gene Tree for RYR1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section

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    Paralogs for RYR1 gene
    RYR22  ITPR32  ITPR22  ITPR12  RYR32  
    3 SIMAP similar genes for RYR1 using alignment to 11 protein entries:     RYR1_HUMAN (see all proteins):
    RYR3    RyR    RYR2

    Find genes that share paralogs with RYR1           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
    About This Section

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    Selected SNPs for RYR1 (see all 4900)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 19 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1121053811,2,,4
    CMalignant hyperthermia 1 (MHS1)4 --39113181(+) GACTGC/GGAAGG 4 A G mis10--------
    rs1178866181,2,,4
    CMalignant hyperthermia 1 (MHS1)4 untested139133979(+) TACGAC/G/TGGGCT 4 D E mis12EA EU 1401
    rs1416466421,2,,4
    C,FCentral core disease of muscle (CCD)4 untested139135793(+) ATGCAC/G/TGAGAC 4 H Q mis11NA 4552
    rs1472138951,2,,4
    C,FMalignant hyperthermia 1 (MHS1)4 untested139138756(+) CGTCAA/GCGGTG 4 N S mis12Minor allele frequency- G:0.00NA EU 5869
    rs289333961,2,,4
    CMalignant hyperthermia 1 (MHS1)4 pathogenic139139512(+) CGGACA/G/TCTGTG 6 H R L mis1 ese30--------
    rs289333971,2,,4
    CMalignant hyperthermia 1 (MHS1)4 other139140169(+) TCCTCC/TGCTCC 4 R C mis1 ese30--------
    rs351805841,2,,4
    C,FMalignant hyperthermia 1 (MHS1)4 other139144843(+) GAAGAC/GCCACC 4 T S mis16Minor allele frequency- G:0.01NA WA EU 5941
    rs1379321991,2,,4
    C,FCentral core disease of muscle (CCD)4 untested139158842(+) GCTGCG/ACAAGA 4 /H /R mis11Minor allele frequency- A:0.00NA 4510
    rs1439878571,2,,4
    C,FCentral core disease of muscle (CCD)4 untested139165043(+) GACCCG/ATTACG 4 /H /R mis12Minor allele frequency- A:0.00NA EU 5619
    rs1471363391,2,,4
    C,FCentral core disease of muscle (CCD)4 untested139183101(+) CTTCTA/GCTGGT 4 Y C mis11Minor allele frequency- G:0.00NA 4548
    rs739330231,2,,4
    C,FMalignant hyperthermia 1 (MHS1)4 --39206521(+) GGAGCC/TGGAGA 4 P L mis13Minor allele frequency- T:0.01WA NA 3606
    VAR_0457784
    Central core disease of muscle (CCD)4--see VAR_0457782 I M mis40--------
    VAR_0457544
    Malignant hyperthermia 1 (MHS1)4--see VAR_0457542 L P mis40--------
    rs289339971,2,4
    Malignant hyperthermia 1 (MHS1)4--see VAR_0055922 mis40--------
    VAR_0457454
    Central core disease of muscle (CCD)4--see VAR_0457452 H P mis40--------
    rs289340011,2,4
    Malignant hyperthermia 1 (MHS1)4--see VAR_0457292 mis40--------
    VAR_0457124
    Malignant hyperthermia 1 (MHS1)4--see VAR_0457122 V L mis40--------
    VAR_0457034
    Malignant hyperthermia 1 (MHS1)4--see VAR_0457032 D V mis40--------
    VAR_0457204
    Malignant hyperthermia 1 (MHS1)4--see VAR_0457202 E G mis40--------
    VAR_0457604
    Malignant hyperthermia 1 (MHS1)4--see VAR_0457602 V I mis40--------
    VAR_0456994
    Malignant hyperthermia 1 (MHS1)4--see VAR_0456992 D N mis40--------
    VAR_0585634
    Malignant hyperthermia 1 (MHS1)4--see VAR_0585632 R H mis40--------
    VAR_0457764
    Central core disease of muscle (CCD)4--see VAR_0457762 R T mis40--------
    VAR_0457814
    Malignant hyperthermia 1 (MHS1)4--see VAR_0457812 G V mis40--------
    VAR_0457714
    Central core disease of muscle (CCD)4--see VAR_0457712 I T mis40--------
    VAR_0685114
    Malignant hyperthermia 1 (MHS1)4--see VAR_0685112 E K mis40--------
    VAR_0585614
    Malignant hyperthermia 1 (MHS1)4--see VAR_0585612 M K mis40--------
    VAR_0457074
    Malignant hyperthermia 1 (MHS1)4--see VAR_0457072 R S mis40--------
    VAR_0457154
    Malignant hyperthermia 1 (MHS1)4--see VAR_0457152 V I mis40--------
    VAR_0457364
    Malignant hyperthermia 1 (MHS1)4--see VAR_0457362 R S mis40--------
    VAR_0457394
    Central core disease of muscle (CCD)4--see VAR_0457392 R Q mis40--------
    VAR_0457424
    Central core disease of muscle (CCD)4--see VAR_0457422 G D mis40--------
    VAR_0457484
    Central core disease of muscle (CCD)4--see VAR_0457482 K Q mis40--------
    VAR_0585764
    Malignant hyperthermia 1 (MHS1)4--see VAR_0585762 R W mis40--------
    VAR_0457094
    Central core disease of muscle (CCD)4--see VAR_0457092 G S mis40--------
    rs289340001,2,4
    Malignant hyperthermia 1 (MHS1)4--see VAR_0056042 mis40--------
    VAR_0457734
    Central core disease of muscle (CCD)4--see VAR_0457732 G R mis40--------
    VAR_0456954
    Malignant hyperthermia 1 (MHS1)4--see VAR_0456952 R C mis40--------
    rs289339961,2,4
    Malignant hyperthermia 1 (MHS1)4--see VAR_0055972 mis40--------
    VAR_0457584
    Central core disease of muscle (CCD)4--see VAR_0457582 V M mis40--------
    VAR_0685104
    Malignant hyperthermia 1 (MHS1)4--see VAR_0685102 H N mis40--------
    VAR_0457624
    Central core disease of muscle (CCD)4--see VAR_0457622 R C mis40--------
    VAR_0329154
    Multiminicore disease with external ophthalmoplegia (MMDO)4--see VAR_0329152 M K mis40--------
    VAR_0457524
    Central core disease of muscle (CCD)4--see VAR_0457522 Y C mis40--------
    VAR_0457184
    Malignant hyperthermia 1 (MHS1)4--see VAR_0457182 V M mis40--------
    VAR_0457014
    Malignant hyperthermia 1 (MHS1)4--see VAR_0457012 Y C mis40--------
    VAR_0585654
    Malignant hyperthermia 1 (MHS1)4--see VAR_0585652 R C mis40--------
    VAR_0457224
    Malignant hyperthermia 1 (MHS1)4--see VAR_0457222 R C mis40--------
    VAR_0585744
    Malignant hyperthermia 1 (MHS1)4--see VAR_0585742 E K mis40--------
    VAR_0457804
    Central core disease of muscle (CCD)4--see VAR_0457802 A T mis40--------
    VAR_0089784
    Malignant hyperthermia 1 (MHS1)4--see VAR_0089782 R H mis40--------
    VAR_0055954
    Malignant hyperthermia 1 (MHS1)4--see VAR_0055952 Y S mis40--------
    VAR_0329104
    Multiminicore disease with external ophthalmoplegia (MMDO)4--see VAR_0329102 R W mis40--------
    VAR_0457664
    Malignant hyperthermia 1 (MHS1)4--see VAR_0457662 K R mis40--------
    VAR_0457504
    Malignant hyperthermia 1 (MHS1)4--see VAR_0457502 R W mis40--------
    VAR_0638494
    Myopathy, congenital, with fiber-type disproportion (CFTD)4--see VAR_0638492 C G mis40--------
    VAR_0089754
    Malignant hyperthermia 1 (MHS1)4--see VAR_0089752 R C mis40--------
    VAR_0089744
    Malignant hyperthermia 1 (MHS1)4--see VAR_0089742 R L mis40--------
    VAR_0457384
    Malignant hyperthermia 1 (MHS1)4--see VAR_0457382 V L mis40--------
    VAR_0456964
    Central core disease of muscle (CCD)4--see VAR_0456962 E G mis40--------
    VAR_0457234
    Malignant hyperthermia 1 (MHS1)4--see VAR_0457232 A T mis40--------
    VAR_0457794
    Malignant hyperthermia 1 (MHS1)4--see VAR_0457792 D E mis40--------
    VAR_0457684
    Central core disease of muscle (CCD)4--see VAR_0457682 R Q mis40--------
    VAR_0457054
    Malignant hyperthermia 1 (MHS1)4--see VAR_0457052 R C mis40--------
    VAR_0457704
    Central core disease of muscle (CCD)4--see VAR_0457702 G V mis40--------
    VAR_0056054
    Malignant hyperthermia 1 (MHS1)4--see VAR_0056052 G R mis40--------
    VAR_0055934
    Malignant hyperthermia 1 (MHS1)4--see VAR_0055932 I M mis40--------
    VAR_0638474
    Myopathy, congenital, with fiber-type disproportion (CFTD)4--see VAR_0638472 H L mis40--------
    VAR_0457554
    Central core disease of muscle (CCD)4--see VAR_0457552 R C mis40--------
    VAR_0457694
    Central core disease of muscle (CCD)4--see VAR_0457692 R W mis40--------
    VAR_0685204
    Central core disease of muscle (CCD)4--see VAR_0685202 G D mis40--------
    VAR_0457044
    Malignant hyperthermia 1 (MHS1)4--see VAR_0457042 R W mis40--------
    VAR_0585604
    Malignant hyperthermia 1 (MHS1)4--see VAR_0585602 L R mis40--------
    VAR_0685164
    Central core disease of muscle (CCD)4--see VAR_0685162 R G mis40--------
    VAR_0457654
    Central core disease of muscle (CCD)4--see VAR_0457652 Y C mis40--------
    VAR_0457754
    Central core disease of muscle (CCD)4--see VAR_0457752 R G mis40--------
    VAR_0457564
    Malignant hyperthermia 1 (MHS1)4--see VAR_0457562 T I mis40--------
    VAR_0457254
    Malignant hyperthermia 1 (MHS1)4--see VAR_0457252 A T mis40--------
    VAR_0457284
    Malignant hyperthermia 1 (MHS1)4--see VAR_0457282 R W mis40--------
    VAR_0457474
    Malignant hyperthermia 1 (MHS1)4--see VAR_0457472 F S mis40--------
    VAR_0585794
    Malignant hyperthermia 1 (MHS1)4--see VAR_0585792 I T mis40--------
    VAR_0585644
    Malignant hyperthermia 1 (MHS1)4--see VAR_0585642 D Y mis40--------
    VAR_0456984
    Malignant hyperthermia 1 (MHS1)4--see VAR_0456982 G R mis40--------
    VAR_0457084
    Malignant hyperthermia 1 (MHS1)4--see VAR_0457082 R C mis40--------
    VAR_0585684
    Malignant hyperthermia 1 (MHS1)4--see VAR_0585682 R H mis40--------
    VAR_0456944
    Central core disease of muscle (CCD)4--see VAR_0456942 L V mis40--------
    VAR_0055984
    Malignant hyperthermia 1 (MHS1)4--see VAR_0055982 R L mis40--------
    rs289339991,2,4
    Malignant hyperthermia 1 (MHS1)4--see VAR_0056022 mis40--------
    VAR_0055894
    Malignant hyperthermia 1 (MHS1)4--see VAR_0055892 C R mis40--------
    VAR_0457354
    Malignant hyperthermia 1 (MHS1)4--see VAR_0457352 I M mis40--------
    VAR_0457444
    Central core disease of muscle (CCD)4--see VAR_0457442 L P mis40--------
    VAR_0089714
    Malignant hyperthermia 1 (MHS1)4--see VAR_0089712 R H mis40--------
    VAR_0585724
    Malignant hyperthermia 1 (MHS1)4--see VAR_0585722 E K mis40--------
    VAR_0457724
    Central core disease of muscle (CCD)4--see VAR_0457722 G E mis40--------
    VAR_0585734
    Malignant hyperthermia 1 (MHS1)4--see VAR_0585732 S P mis40--------
    VAR_0457594
    Central core disease of muscle (CCD)4--see VAR_0457592 A V mis40--------
    VAR_0056034
    Malignant hyperthermia 1 (MHS1)4--see VAR_0056032 V M mis40--------
    VAR_0457744
    Central core disease of muscle (CCD)4--see VAR_0457742 A V mis40--------
    VAR_0457824
    Malignant hyperthermia 1 (MHS1)4--see VAR_0457822 P L mis40--------
    VAR_0457144
    Malignant hyperthermia 1 (MHS1)4--see VAR_0457142 V I mis40--------
    VAR_0685214
    Central core disease of muscle (CCD)4--see VAR_0685212 T M mis40--------
    VAR_0457574
    Malignant hyperthermia 1 (MHS1)4--see VAR_0457572 L V mis40--------
    VAR_0457534
    Central core disease of muscle (CCD)4--see VAR_0457532 L F mis40--------
    VAR_0457674
    Central core disease of muscle (CCD)4--see VAR_0457672 G R mis40--------
    VAR_0457024
    Central core disease of muscle (CCD)4--see VAR_0457022 G E mis40--------
    VAR_0089724
    Malignant hyperthermia 1 (MHS1)4--see VAR_0089722 R P mis40--------
    VAR_0585714
    Malignant hyperthermia 1 (MHS1)4--see VAR_0585712 D G mis40--------
    VAR_0585694
    Malignant hyperthermia 1 (MHS1)4--see VAR_0585692 E K mis40--------
    VAR_0456974
    Malignant hyperthermia 1 (MHS1)4--see VAR_0456972 R L mis40--------
    VAR_0089734
    Malignant hyperthermia 1 (MHS1)4--see VAR_0089732 T R mis40--------
    VAR_0457324
    Central core disease of muscle (CCD)4--see VAR_0457322 P S mis40--------
    VAR_0457404
    Central core disease of muscle (CCD)4--see VAR_0457402 T A mis40--------
    VAR_0457244
    Central core disease of muscle (CCD)4--see VAR_0457242 A P mis40--------
    VAR_0457494
    Malignant hyperthermia 1 (MHS1)4--see VAR_0457492 R Q mis40--------
    VAR_0585774
    Malignant hyperthermia 1 (MHS1)4--see VAR_0585772 G R mis40--------
    VAR_0457214
    Malignant hyperthermia 1 (MHS1)4--see VAR_0457212 A T mis40--------
    VAR_0638464
    Myopathy, congenital, with fiber-type disproportion (CFTD)4--see VAR_0638462 M T mis40--------
    VAR_0585624
    Malignant hyperthermia 1 (MHS1)4--see VAR_0585622 R L mis40--------
    VAR_0457514
    Central core disease of muscle (CCD)4--see VAR_0457512 L P mis40--------
    VAR_0055964
    Malignant hyperthermia 1 (MHS1)4--see VAR_0055962 R W mis40--------
    VAR_0055904
    Malignant hyperthermia 1 (MHS1)4--see VAR_0055902 R C mis40--------
    VAR_0457344
    Central core disease of muscle (CCD)4--see VAR_0457342 R Q mis40--------
    VAR_0457634
    Central core disease of muscle (CCD)4--see VAR_0457632 R H mis40--------
    VAR_0457264
    Malignant hyperthermia 1 (MHS1)4--see VAR_0457262 D N mis40--------
    VAR_0457274
    Malignant hyperthermia 1 (MHS1)4--see VAR_0457272 A V mis40--------
    VAR_0638484
    Myopathy, congenital, with fiber-type disproportion (CFTD)4--see VAR_0638482 N K mis40--------
    rs289339981,2,4
    Malignant hyperthermia 1 (MHS1)4--see VAR_0056012 mis40--------
    VAR_0457064
    Malignant hyperthermia 1 (MHS1)4--see VAR_0457062 R H mis40--------
    VAR_0457004
    Malignant hyperthermia 1 (MHS1)4--see VAR_0457002 R C mis40--------
    VAR_0089764
    Malignant hyperthermia 1 (MHS1)4--see VAR_0089762 R H mis40--------
    rs1181921731,2
    Cpathogenic139083011(+) TGCTCC/TGGCAT 4 R W mis10--------
    rs1181921611,2
    Cpathogenic139083610(+) AGGTCC/TGCGTT 4 R C mis10--------
    rs1181921171,2
    Cpathogenic139091241(+) CCGCAC/TGATCC 4 T M mis10--------
    rs1181921161,2
    Cpathogenic139091245(+) ATGATC/GCACAG 4 I M mis10--------
    rs1181921621,2
    Cpathogenic139094774(+) TCTCTA/C/GTGAAC 6 Y S C mis10--------
    rs1181921631,2
    Cpathogenic139134080(+) GATCCA/C/GCTCGC 6 H P R mis10--------
    rs1181921741,2
    Cpathogenic139139476(+) CATCAA/TGTCCT 4 K M mis10--------
    rs1113646701,2
    Cpathogenic139150116(+) CCAAGA/G/TTGAGA 2 -- spd10--------
    rs1181921641,2
    Cpathogenic139165006(+) GTGCGC/TCCACC 4 P S mis10--------
    rs1181921651,2
    Cpathogenic139204520(+) CCAAG-/CGC   
      CAGTTC
    ATCTT
    2 -- cds10--------
    rs1438498951,2
    Cpathogenic139206499(+) AGCCCA/G/TAGCCG 4 E * stg11NA 3882
    rs1181921661,2
    Cpathogenic139211728(+) AAAGCA/GCAGGC 4 T A mis10--------
    rs1181921791,2
    Cpathogenic139219542(+) GTACCC/TGGGCT 4 P L mis10--------
    rs1181921671,2
    Cpathogenic139219551(+) CTGGTA/GTATGG 4 Y C mis10--------
    rs1181921801,2
    Cpathogenic139219637(+) CGCTGC/TGCACC 4 R C mis10--------
    rs1181921681,2
    Cpathogenic139219950(+) TGGTCA/GTCTAC 4 I V mis10--------
    rs1181921811,2
    Cpathogenic139219986(+) TCTTCC/TGCAAG 4 R C mis10--------
    rs637498691,2
    Cpathogenic139219987(+) CTTCCA/GCAAGT 4 H R mis10--------
    rs1181921701,2
    Cpathogenic139224434(+) AGGCAC/TTGGGG 4 T I mis10--------
    rs1181921831,2
    Cpathogenic139224437(+) CATTGA/GGGACG 4 E G mis10--------
    rs1181921841,2
    Cpathogenic139224481(+) TCTACA/GGGGTG 4 R G mis10--------
    rs1182044211,2
    Cprobable-pathogenic139158787(+) TGAGCC/G/TGTGCA 4 R G mis10--------
    rs1182044221,2
    Cprobable-pathogenic139183366(+) GCCTAC/TGGGAC 4 R W mis10--------
    rs37458431,2
    C,F,Huntested138933120(+) GGGCGG/AGGTGG 2 -- int18Minor allele frequency- A:0.24EA NS WA NA 2278
    rs14696971,2
    C,Funtested138993454(+) ggaggG/Agcagg 2 -- int1 trp32Minor allele frequency- A:0.50NA 4
    rs1181921291,2
    Cuntested139055960(+) GGCGGA/CCACCG 4 D A mis10--------
    rs46322591,2
    C,F,A,Huntested139073119(+) TCTGGT/CGTCTC 2 -- ut51 ese315Minor allele frequency- C:0.07NS EA NA CSA WA 1850
    rs1939227441,2
    Cuntested139073264(+) GTTCCG/TGCGGA 4 R L mis10--------
    rs9197811,2
    C,F,Huntested139073571(+) CCATCC/TTGGAA 2 -- int127Minor allele frequency- T:0.20MN NS EA NA WA CSA 2539
    rs1391617231,2
    Cuntested139080229(+) CAACCG/ACCTGT 4 /H /R mis11Minor allele frequency- A:0.00NA 3862
    rs23041451,2
    C,F,Huntested139080337(+) GAAGAC/GGGTTC 2 -- int1 trp310Minor allele frequency- N:0.01EA NA NS 2112
    rs1181921601,2
    Cuntested139081760(+) CCCCCA/GATCTG 4 N D mis10--------
    rs1181921131,2
    Cuntested139081794(+) GCAGTA/CCCTGT 4 Y S mis10--------
    rs8920541,2
    C,F,A,Huntested139084018(+) GTTGAC/TGCTTC 4 D syn1 ese317Minor allele frequency- T:0.01NA EA NS EU 7385
    rs22291391,2
    C,F,O,Huntested139084039(+) ACACTG/ATGGAA 4 /L syn126Minor allele frequency- A:0.41NS EA NA WA CSA EU 8194
    rs1181921151,2
    Cuntested139085887(+) GACGGA/GAGGTC 4 E G mis10--------
    rs1125966871,2
    Cuntested139085920(+) ACATAA/TGGATG 4 K M mis10--------
    rs22291401,2,,4
    C,F,Huntested139087823(+) CTAGCG/ACTCAC 4 /A syn1 ese39Minor allele frequency- A:0.01MN NS NA 5354
    rs1939227611,2
    Cuntested139087897(+) CTTCCA/G/TCATCT 4 R L mis10--------
    rs81015101,2
    C,Auntested139088101(+) GAGATA/CAAGTA 4 I syn10--------
    rs104060271,2
    C,F,A,Huntested139088164(+) TATGCC/TGCTCC 4 A syn1 ese317Minor allele frequency- T:0.10NA WA CSA EA EU 5964
    rs1133320731,2
    Cuntested139088187(+) CCTGCA/G/TGCTCG 6 Q R L mis10--------
    rs81017241,2
    C,Auntested139088253(+) agaatC/Tgcttg 2 -- int10--------
    rs44762781,2
    C,Huntested139088261(+) ttgagC/Tccagg 2 -- int111Minor allele frequency- T:0.02NA WA CSA EA 374
    rs81025241,2
    C,Auntested139088304(+) cactgC/Tactcc 2 -- int10--------
    rs37458451,2
    C,Funtested139091148(+) GTCTCC/TCCACT 2 -- int11Minor allele frequency- T:0.02EA 1492
    rs1939227641,2
    Cuntested139091237(+) CCGCCC/G/TGCATG 6 R G C mis10--------
    rs37458461,2
    C,Funtested139091254(+) AGCACC/TAATGG 4 T syn1 ese31Minor allele frequency- T:0.01EA 1492
    rs1181921181,2
    Cuntested139092268(+) GGGCTC/TGGGGC 4 S L mis10--------
    rs124607681,2
    C,F,A,Huntested139092502(+) ACGGCA/GCTGGG 2 -- int110Minor allele frequency- G:0.33NA WA CSA EA 373
    rs72548321,2
    C,F,Huntested139094626(+) TGTGAC/TGCCTC 2 -- int138Minor allele frequency- T:0.10NA NS EA WA CSA EU 4665
    rs1477238441,2,,4
    C,Funtested139094662(+) TCTCCA/GTGGTC 4 M V mis12Minor allele frequency- G:0.00NA EU 5875
    rs1181921191,2
    Cuntested139094743(+) CAGCCA/GAGTCC 4 K E mis10--------
    rs1118881481,2
    Cuntested139094878(+) AATCCA/GTGGCA 4 H R mis10--------
    rs1443361481,2
    Cuntested139094887(+) CAATCG/ATAGCA 4 /H /R mis11Minor allele frequency- A:0.00NA 4552
    rs22888881,2
    C,F,A,Huntested139094957(+) GCCTCA/GTCTGG 4 S syn1 ese335Minor allele frequency- G:0.37EA NA NS WA CSA EU 10387
    rs22888891,2
    C,F,A,Huntested139094990(+) ACAGAC/GGCTTG 2 -- int117Minor allele frequency- G:0.33EA NS NA WA CSA EU 2825
    rs1939227721,2
    Cuntested139096963(+) TGTACA/G/TCTCCA 4 R L mis10--------
    rs20710851,2
    C,F,O,Huntested139097133(+) TGTCCC/TTTCCT 2 -- int1 trp328Minor allele frequency- T:0.38NS EA NA WA CSA 2746
    rs1461048581,2
    C,Funtested139097663(+) GTCGGC/AGATGA 4 /G syn12Minor allele frequency- A:0.00NA EU 5855
    rs20710861,2
    C,Funtested139097740(+) TCACCC/GCTGAC 2 -- int17Minor allele frequency- G:0.23EA NA CSA WA EU 3175
    rs48024741,2
    C,F,A,Huntested139098506(+) TCTTGG/TTATCA 2 -- int137Minor allele frequency- T:0.40EA NA NS WA CSA 3416
    rs1508310551,2
    Cuntested139098618(+) GAAGAC/TGTGAT 4 D syn11Minor allele frequency- T:0.00NA 4552
    rs37458471,2
    C,F,Huntested139098681(+) TGCCCT/CGTGCA 4 /P syn1 ese319Minor allele frequency- C:0.38NA NS WA CSA EA EU 6548
    rs23041471,2
    C,F,Huntested139099727(+) CATGTT/CCCCCA 2 -- int123Minor allele frequency- C:0.37EA NS NA WA CSA 3844
    rs23041491,2
    C,F,Huntested139102915(+) GGTCTC/GAAGAA 2 -- int18Minor allele frequency- G:0.06EA NA NS 1806
    rs1393395741,2
    Cuntested139103291(+) CACCCG/ATGTCT 4 /P syn11Minor allele frequency- A:0.00NA 4552
    rs22280691,2
    C,F,Huntested139105678(+) CAGACA/C/GACACT 6 T syn1 ese335MN NA NS EA WA CSA EU 7801
    rs22280701,2
    C,F,A,Huntested139105714(+) CACAAC/TGTGTG 4 N syn127Minor allele frequency- T:0.21MN EA NA NS WA CSA EU 9185
    rs1807146091,2
    Cuntested139105731(+) AGACCA/GCGTGG 4 H R mis10--------
    rs22280741,2
    C,Funtested139105777(+) CCAGCG/ACGCCG 4 /A syn1 ese32Minor allele frequency- A:0.01MN NA 4408
    rs1112720951,2
    Cuntested139105862(+) CCGTGC/TGCACC 4 R C mis10--------
    rs72580751,2
    C,F,A,Huntested139108071(+) ATCCAT/GCTATC 2 -- int129Minor allele frequency- G:0.11NS EA NA WA 3292
    rs110834621,2
    C,F,A,Huntested139108555(+) ATGATC/TGACCT 4 I syn140Minor allele frequency- T:0.40NA NS EA WA CSA EU 9158
    rs37458501,2
    C,Funtested139108746(+) CCATCC/TCTACC 2 -- int12Minor allele frequency- T:0.04EA 1616
    rs346948161,2,,4
    C,Funtested139113150(+) GCTGGA/GGCGAG 4 S G mis14Minor allele frequency- G:0.12NA WA 196
    rs118826401,2
    C,F,A,Huntested139113233(+) CAGCCC/TGCCAG 4 P syn1 ese310Minor allele frequency- T:0.07NS NA WA 1158
    rs72585031,2
    C,F,Huntested139117414(+) GAGGTG/ACAGGG 2 -- int16Minor allele frequency- A:0.06NS EA CSA WA 538
    rs354808871,2
    C,Funtested139122816(+) ATGCCG/ATTGTC 4 /P syn12Minor allele frequency- A:0.01NA 2838
    rs1181921201,2
    Cuntested139122826(+) CAGCCA/GCCATG 4 T A mis10--------
    rs1939227811,2
    Cuntested139125353(+) CCGCTC/TCATGC 4 S F mis10--------
    rs349349201,2,,4
    C,Funtested139125530(+) TCTGCC/TAGCTG 4 P L mis16Minor allele frequency- T:0.01NA EU 5469
    rs22280681,2
    C,F,O,Huntested139130159(+) TTCAAA/GGATGG 4 K syn123Minor allele frequency- G:0.08MN NA NS EA WA EU 8311
    rs353643741,2,,4
    C,Funtested139132055(+) CCCTGG/TGCAGC 4 G C mis16Minor allele frequency- T:0.06NA EU 6053
    rs116659701,2
    C,Huntested139132206(+) CATGCC/TTGCGG 2 -- int14Minor allele frequency- T:0.00NS EA 418
    rs1939227931,2
    Cuntested139135816(+) CATGGA/C/TCAACG 6 D A V mis10--------
    rs1939227951,2
    Cuntested139135821(+) TCAACA/GTCCTC 4 I V mis10--------
    rs1181921211,2
    Cuntested139136425(+) TTGACA/CACAAT 4 N H mis10--------
    rs343903451,2,,4
    C,Funtested139138692(+) CAGACA/GTTGGC 4 I V mis15Minor allele frequency- G:0.00NA EU 5943
    rs1125635131,2
    Cuntested139138738(+) CCTGCA/GCTTTG 4 H R mis10--------
    rs37458511,2
    Cuntested139138785(+) CAGAGC/TGGGAA 2 -- int10--------
    rs37458521,2
    C,F,Huntested139138821(+) CCCTCG/AAGATG 2 -- int19Minor allele frequency- A:0.04NS EA NA 1028
    rs1939228021,2
    Cuntested139139170(+) AGAACA/GCCAAT 4 T A mis10--------
    rs22280711,2
    C,Funtested139139211(+) GAGTGC/TTTCGG 4 C syn17Minor allele frequency- T:0.06MN NA WA EA EU 5353
    rs22291471,2
    C,F,Huntested139139220(+) GGACCC/TGCCCT 4 P syn1 ese323Minor allele frequency- T:0.10MN NS EA NA WA EU 7219
    rs1463069341,2
    Cuntested139139221(+) GACCCG/ACCCTG 4 /T /A mis11Minor allele frequency- A:0.00NA 4274
    rs1394982121,2
    Cuntested139139224(+) CCGCCC/TTGCGG 4 L syn11Minor allele frequency- T:0.00NA 4264
    rs787951781,2
    C,Funtested139139331(+) CGGCGC/TGAGCA 4 R syn12Minor allele frequency- T:0.01EA NA 3372
    rs129736321,2
    C,Funtested139139468(+) GGACAC/TGCCAT 4 H syn1 ese37Minor allele frequency- T:0.03NS NA EU 5969
    rs1939228081,2
    Cuntested139139469(+) GACACC/G/TCCATC 4 P A mis10--------
    rs1939228101,2
    Cuntested139139499(+) TGATCA/G/TACCTG 6 N D Y mis10--------
    rs22347091,2
    Cuntested139139551(+) CAGGGC/AAGGAT 2 -- int14Minor allele frequency- A:0.05NA WA EA 360
    rs129811751,2
    Cuntested139140102(+) CCTCTC/TCCTCC 2 -- int1 trp30--------
    rs1181921241,2
    Cuntested139140151(+) CCCTGC/TGGATC 4 R W mis10--------
    rs1181921231,2
    Cuntested139140155(+) GCGGAC/TCCGCG 4 T I mis10--------
    rs1181921221,2
    Cuntested139140158(+) GATCCA/GCGCCA 4 H R mis10--------
    rs1939228171,2
    Cuntested139140378(+) CGTGCC/TGGACC 4 P L mis11Minor allele frequency- T:0.00EU 1253
    rs22280721,2
    C,Funtested139140391(+) AAGGCA/G/TTCCAT 4 A syn1 ese311MN NA WA CSA EA EU 6308
    rs1181921781,2
    Cuntested139140413(+) TGGACC/G/TGTGTG 6 R G C mis10--------
    rs20710881,2,,4
    C,F,Huntested139140418(+) CGTGTG/ATATGG 4 /V syn1 ese323Minor allele frequency- A:0.10MN NA NS EA CSA WA EU 8251
    rs14656981,2
    C,Funtested139140475(+) CTGCCC/TGACAT 4 P syn1 ese36Minor allele frequency- G:0.00MN NA WA EA EU 5695
    rs29603231,2
    C,F,A,Huntested139140515(+) GCAACC/GCTGCC 2 -- int111Minor allele frequency- G:0.19NA WA CSA EA EU 1070
    rs1939228221,2
    Cuntested139142178(+) TGTCTC/G/TGGGGT 6 R G W mis10--------
    rs14696951,2
    C,F,Auntested139142241(+) GGTGGA/GGCGGG 2 -- int16Minor allele frequency- G:0.24NA WA EA EU 926
    rs14696961,2
    Cuntested139142297(+) aggggC/Gaggag 2 -- int1 trp31Minor allele frequency- G:0.00NA 2
    rs22291421,2
    C,Funtested139142392(+) CAGCAC/TCTGTT 4 H syn111Minor allele frequency- T:0.16MN WA NA CSA EA EU 6279
    rs14696981,2
    C,F,Auntested139142401(+) TTGCGC/G/TCGCCT 4 R syn1 ese311MN NA WA CSA EU 6343
    rs14696991,2
    C,F,Auntested139142483(+) ATCTCA/GTTTCC 2 -- int117Minor allele frequency- G:0.34MN NA EA WA CSA 923
    rs22291441,2
    C,F,A,Huntested139143755(+) CCCACG/AGGCTG 4 /T syn1 ese327Minor allele frequency- A:0.34MN NS EA NA WA CSA EU 7931
    rs29603401,2
    C,F,A,Huntested139144283(+) GCCATT/CGCCGG 4 /I syn125Minor allele frequency- C:0.34NS EA NA WA CSA EU 8264
    rs1121966441,2
    Cuntested139144354(+) AGTGGA/GTGCTG 4 D G mis10--------
    rs29159511,2
    C,F,A,Huntested139144355(+) GTGGAT/CGCTGA 4 /D syn1 ese325Minor allele frequency- C:0.34NA NS EA WA CSA EU 8258
    rs38299761,2
    Cuntested139144664(+) ACCCCC/GCAGCC 2 -- int10--------
    rs29159521,2,,4
    C,Funtested139144820(+) GGAGAG/AAACAT 4 /E syn114Minor allele frequency- A:0.30NA WA CSA EA EU 6150
    rs29159531,2
    C,Funtested139144911(+) CATTGA/GGGGTC 2 -- int18Minor allele frequency- G:0.30NA WA CSA EA 367
    rs29603411,2
    C,Funtested139144944(+) GGATTC/TGGGGA 2 -- int15Minor allele frequency- T:0.10NA WA 244
    rs29603421,2
    C,F,A,Huntested139145465(+) GGGCAC/TGATGG 2 -- int110Minor allele frequency- T:0.24NA WA CSA EA EU 780
    rs29603431,2
    C,F,A,Huntested139145468(+) CACGAT/GGGGGG 2 -- int19Minor allele frequency- G:0.25NA WA CSA EA EU 778
    rs29159541,2
    C,F,A,Huntested139145485(+) CTAGAA/GCAAGG 2 -- int111Minor allele frequency- G:0.31EA NA WA CSA 551
    rs22291461,2
    C,F,A,Huntested139145835(+) CTTAGT/CGCTGT 4 /S syn1 ese326Minor allele frequency- C:0.33MN NS EA NA WA CSA EU 8228
    rs29603441,2
    C,Funtested139145921(+) ATCCTC/TTGAAT 2 -- int113Minor allele frequency- T:0.28NA WA CSA EA EU 970
    rs1127723101,2
    Cuntested139145977(+) TGGCAA/GAAAAT 4 K E mis10--------
    rs29603451,2
    C,F,Auntested139146059(+) CACGCT/GACCCC 2 -- int111Minor allele frequency- G:0.30WA NA CSA EA 375
    rs29159581,2
    C,Funtested139146304(+) TCTTTG/CCCTCC 2 -- int112Minor allele frequency- C:0.26NA WA CSA EA EU 1464
    rs1181921251,2
    Cuntested139146437(+) TACAAA/GGCACG 4 K R mis10--------
    rs29159591,2
    C,F,Auntested139146454(+) GGGGCT/ACCCGC 2 -- int19Minor allele frequency- A:0.24NA CSA WA EA EU 1285
    rs29603461,2
    C,Funtested139146480(+) AGAACA/CCACCC 2 -- int110Minor allele frequency- C:0.23NA WA CSA EA EU 1042
    rs29603471,2
    C,F,Huntested139146524(+) GTGGAG/TCCGAG 2 -- int114Minor allele frequency- T:0.14NS EA WA NA CSA 783