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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

RYR1 Gene

protein-coding GIFtS: 68
GCID: GC19P038924

ryanodine receptor 1 (skeletal)

(Previous name: central core disease of muscle )
(Previous symbols: MHS, MHS1, CCO)

Explore 57 diseases affiliated with
RYR1 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Ryanodine Receptor 1 (Skeletal)¹ ²		RYDR² ³
CCO¹ ² ⁵		RYR-1² ³
MHS¹ ² ⁵		SKRR²
MHS1¹ ²		Ryanodine Receptor 1²
RYR¹ ²		Ryanodine Receptor Type1²
Central Core Disease Of Muscle¹ ²		Sarcoplasmic Reticulum Calcium Release Channel²
Skeletal Muscle Calcium Release Channel² ³		Type 1-Like Ryanodine Receptor²
Skeletal Muscle Ryanodine Receptor² ³		RyR1³
Type 1 Ryanodine Receptor² ³		Skeletal Muscle-Type Ryanodine Receptor³

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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for RYR1:

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)

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

(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000019.9 NC_018930.1 NT_011109.16

Regulatory elements:

SABiosciences 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 plasmid: RYR1 promoter sequence

Search SABiosciences Chromatin IP Primers for RYR1

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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:	38,924,340 bp from pter	End:	39,078,204 bp from pter
Size:	153,865 bases	Orientation:	plus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

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)

Subcellular location: 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

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

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

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_P21817

RYR1 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (2 alternative transcripts):

NP_000531.2 NP_001036188.1

ENSEMBL proteins:

ENSP00000352608 ENSP00000347667 ENSP00000354254

Reactome Protein details: P21817
Human Recombinant Protein Products:

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	Uscn Proteins for RYR1

Gene Ontology (GO): 5/14 cellular component terms (GO ID links to tree view) (see all 14): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005624	membrane fraction	--	--
GO:0005737	cytoplasm	IDA	11206130
GO:0005790	smooth endoplasmic reticulum	TAS	2298749
GO:0005886	plasma membrane	IDA	11206130
GO:0005887	integral to plasma membrane	TAS	2298749

RYR1 for ontologies About GeneDecksing

RYR1 Antibody Products:

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	Uscn ELISAs and CLIAs for RYR1

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

RYR1 for domains About GeneDecksing

5/14 InterPro domains/families (see all 14):

IPR014821 Ins145_P3_rcpt

IPR003032 Ryanodine_rcpt

IPR001870 B30.2/SPRY

IPR011992 EF-hand-like_dom

IPR000699 Ca-rel_channel

Graphical View of Domain Structure for InterPro Entry P21817

ProtoNet protein and cluster: P21817

5 Blocks protein families:

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

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

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)

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)

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Gene Editing
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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RYR1

Gene Ontology (GO): 5/9 molecular function terms (GO ID links to tree view) (see all 9): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0002020	protease binding	IEA	--
GO:0004872	receptor activity	--	--
GO:0005219	ryanodine-sensitive calcium-release channel activity	TAS	19095005
GO:0005245	voltage-gated calcium channel activity	ISS	--
GO:0005262	calcium channel activity	ISS	--

RYR1 for ontologies           About GeneDecksing

Animal Models:
     Mouse knock-outs for RYR1: Ryr1^tm1Alle Ryr1^tm1Tno
     15 MGI mutant phenotypes (inferred from 8 alleles) (MGI details for Ryr1):

adipose tissue	behavior/neurological	cardiovascular system	cellular	craniofacial
digestive/alimentary	growth/size	homeostasis/metabolism	integument	limbs/digits/tail
mortality/aging	muscle	other	respiratory system	skeleton

RYR1 for phenotypes About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways - 5/15 super-pathways (see all 15) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Activation of cAMP-Dependent PKA

	Activation of cAMP-Dependent PKA	1.00			Activation of PKA through GPCR	0.71
	cAMP Pathway	0.77			PKA Signaling	0.56

G Protein Signaling Pathways

	Signal transduction cAMP signaling	0.44			Signal transduction_PKA signaling	0.23
	Signal transduction_cAMP signaling	0.44			Signal transduction PKA signaling	0.23

Ion channel transport

Ion channel transport

1.00

Stimuli-sensing channels

0.49

Signal transduction Calcium signaling

Signal transduction Calcium signaling

1.00

Signal transduction_Calcium signaling

0.97

Calcium Regulation in the Cardiac Cell

Calcium Regulation in the Cardiac Cell

1.00

Myometrial Relaxation and Contraction Pathways

0.43

Pathway sources
See GeneCards unified pathways
Show all pathways

4 EMD Millipore Pathways for RYR1

	Signal transduction Calcium signaling
	G-protein signaling G-Protein alpha-s signaling cascades
	Signal transduction cAMP signaling
	Signal transduction PKA signaling

5/9 Downloadable PowerPoint Slides of QIAGEN 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

3 Reactome Pathways for RYR1

	Transmembrane transport of small molecules
	Stimuli-sensing channels
	Ion channel transport

2 Kegg Pathways (Kegg details for RYR1):

	Calcium signaling pathway
	Long-term depression

RYR1 for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for RYR1

STRING Interaction Network Preview (showing 5 interactants - click image to see 23)

5/52 Interacting proteins for RYR1 (P21817^{1, 2, 3} ENSP00000352608⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 52)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
PLCG1	P19174²^,³, ENSP00000244007⁴	MINT-8112747 I2D: score=3 STRING: ENSP00000244007
H2AFZ	P0C0S5²^,³	MINT-19797 I2D: score=1
CALM1	P62158³, ENSP00000349467⁴	I2D: score=1 STRING: ENSP00000349467
CALM2	P62158³	I2D: score=1
CALM3	P62158³	I2D: score=1

About this table

Gene Ontology (GO): 5/14 biological process terms (GO ID links to tree view) (see all 14): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0001666	response to hypoxia	IDA	19120137
GO:0003151	outflow tract morphogenesis	ISS	--
GO:0006816	calcium ion transport	ISS	--
GO:0006936	muscle contraction	ISS	--
GO:0014808	release of sequestered calcium ion into cytosol by sarcoplasmic reticulum	ISS	--

RYR1 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

RYR1 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for RYR1

2 HMDB Compounds for RYR1 About this table

Compound	Synonyms	CAS #	PubMed Ids
Calcium	Ca (see all 2)	7440-70-2	--
Magnesium	Magnesium (see all 2)	7439-95-4	--

3 DrugBank Compounds for RYR1 About this table

Compound	Synonyms	CAS #	Type	Actions	PubMed Ids
Dantrolene	Dantrolene Sodium (see all 3)	7261-97-4	target	antagonist	15023108 7488490 12167662 6704779 16945924 12666006 11752352 7362049 9924249
Caffeine	Cafeina (see all 7)	58-08-2	target	--	17514358
Suramin	Bayer 205 (see all 6)	145-63-1	target	agonist	16056233

10/98 Novoseek 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)

1 PharmGKB related drug/compound annotation for RYR1 gene

Drug/compound	PharmGKB Annotation
hmg coa reductase inhibitors	CA

About this table

Search CenterWatch for drugs/clinical trials and news about RYR1

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 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,
RNAi Products from EMD Millipore,
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Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

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

3 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000359596(uc002oit.3) ENST00000355481(uc002oiu.3) ENST00000360985(uc002oiv.1 uc010xuf.1)

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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat RYR1

Additional cDNA 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

24/107 AceView cDNA sequences (see all 107):

BE764184 BQ185433 BM805728 F34519 CB129444 BQ962760 F34300 AA808825

NM_000540 F31264 BQ189108 F15827 BG830167 CA427848 BE764223 F21877

F36856 AF075460 F00754 BE764204 BI457578 BI000785 BE764174 AI382958

GeneLoc Exon Structure

5/8 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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

RYR1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: TTTTTCCTGA

About this image

RYR1 expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

1 LifeMap In Vivo Development Anatomical Compartment/Cell

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Adipose

Interscapular Brown Adipose Depot

Adipose

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See RYR1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for RYR1

SOURCE GeneReport for Unigene cluster: Hs.466664

UniProtKB/Swiss-Prot: RYR1_HUMAN, P21817

Tissue specificity: Skeletal muscle and brain (cerebellum and hippocampus)

SABiosciences Custom PCR Arrays for RYR1

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for RYR1 Browse OriGene validated miRNA SYBR primer pairs
		SABiosciences RT² qPCR Primer Assay in human, mouse, rat RYR1
		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat RYR1
		QIAGEN 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

This gene was present in the common ancestor of eukaryotes.

Orthologs for RYR1 gene from 7/22 species (see all 22) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Ryr1^{1 , 5}	ryanodine receptor 1, skeletal muscle^{1, 5}	88.55(n)¹ 96.02(a)¹		7 (16.94 cM)⁵ 20190¹ NM_009109.2¹ NP_033135.2¹ 29003340⁵
lizard (Anolis carolinensis)	Reptilia	-- -- (see all 3)	--	86(a) 84(a) (see all 3)	many → 1 many → 1 (see all 3)	GL343427.1(685880-727627) GL343427.1(594163-625539)
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	ryr1b¹	ryanodine receptor 1b (skeletal)	71.86(n) 78(a)		570245 NM_001102571.1 NP_001096041.1
fruit fly (Drosophila melanogaster)	Insecta	Rya-r44F³	muscle contraction ryanodine-sensitive calcium-release more	57(a)		44F2 --
worm (Caenorhabditis elegans)	Secernentea	unc-68³	ryanodine receptor	40(a)		V(6904616-6926793) --
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

Paralogs for RYR1 gene

RYR2² ITPR3² ITPR2² ITPR1² RYR3²

2 SIMAP similar genes for RYR1 using alignment to 11 protein entries: RYR1_HUMAN (see all proteins):

RYR3 RYR2

RYR1 for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 19 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs118192160^1,2	C	non-pathogenic	38933001(+)	`CCCCCA/GATCTG`	4	N D	mis¹		0	--	--	--	--
rs118192113^1,2	C	non-pathogenic	38933035(+)	`GCAGTA/CCCTGT`	4	Y S	mis¹		0	--	--	--	--
rs118192115^1,2	C	non-pathogenic	38937124(+)	`GACGGA/GAGGTC`	4	E G	mis¹		0	--	--	--	--
rs118192117^1,2	C	non-pathogenic	38942486(+)	`CCGCAC/TGATCC`	4	T M	mis¹		0	--	--	--	--
rs118192118^1,2	C	non-pathogenic	38943494(+)	`GGGCTC/TGGGGC`	4	S L	mis¹		0	--	--	--	--
rs118192119^1,2	C	non-pathogenic	38945968(+)	`CAGCCA/GAGTCC`	4	K E	mis¹		0	--	--	--	--
rs118192120^1,2	C	non-pathogenic	38973951(+)	`CAGCCA/GCCATG`	4	T A	mis¹		0	--	--	--	--
rs118192121^1,2	C	non-pathogenic	38987550(+)	`TTGACA/CACAAT`	4	N H	mis¹		0	--	--	--	--
rs118192124^1,2	C	non-pathogenic	38991276(+)	`CCCTGC/TGGATC`	4	R W	mis¹		0	--	--	--	--
rs118192123^1,2	C	non-pathogenic	38991280(+)	`GCGGAC/TCCGCG`	4	T I	mis¹		0	--	--	--	--
rs118192122^1,2	C	non-pathogenic	38991283(+)	`GATCCA/GCGCCA`	4	H R	mis¹		0	--	--	--	--
rs118192125^1,2	C	non-pathogenic	38997592(+)	`TACAAA/GGCACG`	4	K R	mis¹		0	--	--	--	--
rs118192126^1,2	C	non-pathogenic	39009935(+)	`GCGCAA/GGAGGG`	4	K R	mis¹		0	--	--	--	--
rs118192127^1,2	C	non-pathogenic	39018417(+)	`CTACCC/TGGACC`	4	P L	mis¹		0	--	--	--	--
rs118192129^1,2	C	non-pathogenic	39055960(+)	`GGCGGA/CCACCG`	4	D A	mis¹		0	--	--	--	--
rs118192130^1,2	C,	non-pathogenic	39061260(+)	`GTCCCG/AGAACT`	4	/Q /R	mis¹		1		NA	4550
rs118192131^1,2	C	non-pathogenic	39061290(+)	`TGCCCC/TCTTCT`	4	P L	mis¹		0	--	--	--	--
rs118192132^1,2	C	non-pathogenic	39062803(+)	`TGTACA/TACTTC`	4	N Y	mis¹		0	--	--	--	--
rs118192133^1,2	C	non-pathogenic	39062812(+)	`TCCTGA/GAGGAA`	4	K E	mis¹		0	--	--	--	--
rs118192134^1,2	C	non-pathogenic	39062822(+)	`AAGCAC/TAGGCT`	4	T I	mis¹		0	--	--	--	--
rs118192136^1,2	C	non-pathogenic	39062824(+)	`GCACAA/GGCTAC`	4	S G	mis¹		0	--	--	--	--
rs118192135^1,2	C	non-pathogenic	39062825(+)	`CACAGA/GCTACA`	4	D G	mis¹		0	--	--	--	--
rs118192138^1,2	C	non-pathogenic	39062861(+)	`CCTCCC/TGCATA`	4	P L	mis¹		0	--	--	--	--
rs118192139^1,2	C	non-pathogenic	39062864(+)	`CCTGCA/CTACAC`	4	H P	mis¹		0	--	--	--	--
rs118192140^1,2	C,	non-pathogenic	39063944(+)	`CAACAC/TGCCGT`	4	T M	mis¹		0	--	--	--	--
rs118192141^1,2	C	non-pathogenic	39066599(+)	`AGCGCA/CAGGTG`	4	K Q	mis¹		0	--	--	--	--
rs118192142^1,2	C	non-pathogenic	39070697(+)	`CCCATC/TTCCTG`	4	L F	mis¹		0	--	--	--	--
rs118192143^1,2	C	non-pathogenic	39071035(+)	`TCTGGC/TGGTGG`	4	A V	mis¹		0	--	--	--	--
rs118192144^1,2	C	non-pathogenic	39071070(+)	`CCTTCA/GACTTC`	4	N D	mis¹		0	--	--	--	--
rs118192145^1,2	C	non-pathogenic	39071076(+)	`ACTTC-/TTCCGCAA`	2	--	cds¹		0	--	--	--	--
rs118192146^1,2	C	non-pathogenic	39071089(+)	`GTTCTA/GCAACA`	4	Y C	mis¹		0	--	--	--	--
rs118192147^1,2	C	non-pathogenic	39075595(+)	`TGTTTC/TACATG`	4	H Y	mis¹		0	--	--	--	--
rs118192149^1,2	C	non-pathogenic	39075607(+)	`ACGTGC/GGTGTC`	4	R G	mis¹		0	--	--	--	--
rs118192151^1,2	C	non-pathogenic	39075614(+)	`TGTCCA/C/GGGCTG`	6	Q P R	mis¹		0	--	--	--	--
rs118192148^1,2	C	non-pathogenic	39075626(+)	`CGGAGG/TCATTG`	4	G V	mis¹		0	--	--	--	--
rs118192153^1,2	C	non-pathogenic	39075653(+)	`CCCCGC/TGGGTG`	4	A V	mis¹		1		NA	4550
rs118192154^1,2	C	non-pathogenic	39075677(+)	`CTACAC/GGGTGG`	4	T R	mis¹		0	--	--	--	--
rs118192155^1,2	C	non-pathogenic	39075695(+)	`CATCAA/CCTTCT`	4	N T	mis¹		0	--	--	--	--
rs118192156^1,2	C	non-pathogenic	39075698(+)	`CACCTC/TCTTCT`	4	S F	mis¹		0	--	--	--	--
rs118192159^1,2	C	non-pathogenic	39076588(+)	`ATCATC/GGACGC`	4	I M	mis¹		0	--	--	--	--
rs118192158^1,2	C	non-pathogenic	39076592(+)	`TCGACA/GCTTTT`	4	T A	mis¹		0	--	--	--	--
rs118192173^1,2	C	pathogenic	38934252(+)	`TGCTCC/TGGCAT`	4	R W	mis¹		0	--	--	--	--
rs118192116^1,2	C	pathogenic	38942490(+)	`ATGATC/GCACAG`	4	I M	mis¹		0	--	--	--	--
rs118192162^1,2	C	pathogenic	38945999(+)	`TCTCTA/C/GTGAAC`	6	Y S C	mis¹		0	--	--	--	--
rs118192163^1,2	C	pathogenic	38985205(+)	`GATCCA/C/GCTCGC`	6	H P R	mis¹		0	--	--	--	--
rs118192174^1,2	C	pathogenic	38990601(+)	`CATCAA/TGTCCT`	4	K M	mis¹		0	--	--	--	--
rs28933396^1,2	C	pathogenic	38990637(+)	`CGGACA/G/TCTGTG`	6	H R L	mis¹ ese³		2		NA	4
rs118192178^1,2	C	pathogenic	38991538(+)	`TGGACC/G/TGTGTG`	6	R G C	mis¹		0	--	--	--	--
rs118192164^1,2	C	pathogenic	39016095(+)	`GTGCGC/TCCACC`	4	P S	mis¹		0	--	--	--	--
rs118192165^1,2	C	pathogenic	39055614(+)	`CCAAG-/CGC CAGTTCATCTT`	2	--	cds¹		0	--	--	--	--
rs118192166^1,2	C	pathogenic	39062821(+)	`AAAGCA/GCAGGC`	4	T A	mis¹		0	--	--	--	--
rs118192179^1,2	C	pathogenic	39070635(+)	`GTACCC/TGGGCT`	4	P L	mis¹		0	--	--	--	--
rs118192167^1,2	C	pathogenic	39070644(+)	`CTGGTA/GTATGG`	4	Y C	mis¹		0	--	--	--	--
rs118192180^1,2	C	pathogenic	39070730(+)	`CGCTGC/TGCACC`	4	R C	mis¹		0	--	--	--	--
rs118192168^1,2	C	pathogenic	39071043(+)	`TGGTCA/GTCTAC`	4	I V	mis¹		0	--	--	--	--
rs118192181^1,2	C	pathogenic	39071079(+)	`TCTTCC/TGCAAG`	4	R C	mis¹		0	--	--	--	--
rs63749869^1,2	C	pathogenic	39071080(+)	`CTTCCA/GCAAGT`	4	H R	mis¹		0	--	--	--	--
rs118192150^1,2	C	pathogenic	39075613(+)	`GTGTCC/G/TGGGCT`	6	R G W	mis¹		0	--	--	--	--
rs118192170^1,2	C	pathogenic	39075629(+)	`AGGCAC/TTGGGG`	4	T I	mis¹		0	--	--	--	--
rs118192183^1,2	C	pathogenic	39075632(+)	`CATTGA/GGGACG`	4	E G	mis¹		0	--	--	--	--
rs118192184^1,2	C	pathogenic	39075676(+)	`TCTACA/GGGGTG`	4	R G	mis¹		0	--	--	--	--
rs118204422^1,2	C	probable-pathogenic	39034456(+)	`GCCTAC/TGGGAC`	4	R W	mis¹		0	--	--	--	--
rs1469696^1,2	C	untested	35439819(+)	`aggggC/Gaggag`	1	--	int¹ trp³		1		NA	2
rs4632259^1,2	C,F,A,H,	untested	38924362(+)	`TCTGGT/CGTCTC`	2	--	ut5¹ ese³		15		NS EA NA CSA WA	1850
rs193922744^1,2	C	untested	38924507(+)	`GTTCCG/TGCGGA`	4	R L	mis¹		0	--	--	--	--
rs919781^1,2	C,F,H,	untested	38924814(+)	`CCATCC/TTGGAA`	2	--	int¹		27		MN NS EA NA WA CSA	2539
rs139161723^1,2	C	untested	38931470(+)	`CAACCG/ACCTGT`	4	/H /R	mis¹		1		NA	3862
rs2304145^1,2	C,F,H,	untested	38931578(+)	`GAAGAC/GGGTTC`	2	--	int¹ trp³		10		EA NA NS	2112
rs892054^1,2	C,F,A,H,	untested	38935259(+)	`GTTGAC/TGCTTC`	4	D	syn¹ ese³		17		NA EA NS EU	7385
rs2229139^1,2	C,F,O,H,	untested	38935280(+)	`ACACTG/ATGGAA`	4	/L	syn¹		26		NS EA NA WA CSA EU	8194
rs112596687^1,2	C	untested	38937157(+)	`ACATAA/TGGATG`	4	K M	mis¹		0	--	--	--	--
rs1801086^1,2	C	untested	38937350(+)	`ATGAGA/C/GGGGGA`	6	R G	mis¹		1		NA	2
rs2229140^1,2	C,F,H,	untested	38939067(+)	`CTAGCG/ACTCAC`	4	/A	syn¹ ese³		9		MN NS NA	5354
rs193922761^1,2	C,	untested	38939141(+)	`CTTCCA/G/TCATCT`	6	H R L	mis¹		0	--	--	--	--
rs8101510^1,2	C,A	untested	38939345(+)	`GAGATA/CAAGTA`	4	I	syn¹		0	--	--	--	--
rs113332073^1,2	C	untested	38939431(+)	`CCTGCA/G/TGCTCG`	6	Q R L	mis¹		0	--	--	--	--
rs8101724^1,2	C,A	untested	38939497(+)	`agaatC/Tgcttg`	2	--	int¹		0	--	--	--	--
rs4476278^1,2	C,H,	untested	38939505(+)	`TTGAGC/TCCAGG`	2	--	int¹		11		NA WA CSA EA	374
rs8102524^1,2	C,A	untested	38939548(+)	`cactgC/Tactcc`	2	--	int¹		0	--	--	--	--
rs3745845^1,2	C,F,	untested	38942393(+)	`GTCTCC/TCCACT`	2	--	int¹		1		EA	1492
rs193922764^1,2	C	untested	38942482(+)	`CCGCCC/G/TGCATG`	6	R G C	mis¹		0	--	--	--	--
rs3745846^1,2	C,F,	untested	38942499(+)	`AGCACC/TAATGG`	4	T	syn¹ ese³		1		EA	1492
rs12460768^1,2	C,F,A,H,	untested	38943728(+)	`ACGGCA/GCTGGG`	2	--	int¹		10		NA WA CSA EA	373
rs7254832^1,2	C,F,H,	untested	38945851(+)	`TGTGAC/TGCCTC`	2	--	int¹		38		NA NS EA WA CSA EU	4665
rs147723844^1,2	C,F,	untested	38945887(+)	`TCTCCA/GTGGTC`	4	M V	mis¹		2		NA EU	5875
rs111888148^1,2	C	untested	38946103(+)	`AATCCA/GTGGCA`	4	H R	mis¹		0	--	--	--	--
rs144336148^1,2	C	untested	38946112(+)	`CAATCG/ATAGCA`	4	/H /R	mis¹		1		NA	4552
rs2288888^1,2	C,F,A,H,	untested	38946182(+)	`GCCTCA/GTCTGG`	4	S	syn¹ ese³		35		EA NA NS WA CSA EU	10387
rs2071085^1,2	C,F,O,H,	untested	38948356(+)	`TGTCCC/TTTCCT`	2	--	int¹ trp³		28		NS EA NA WA CSA	2746
rs146104858^1,2	C,F,	untested	38948886(+)	`GTCGGC/AGATGA`	4	/G	syn¹		2		NA EU	5855
rs2071086^1,2	C,F,	untested	38948963(+)	`TCACCC/GCTGAC`	2	--	int¹		7		EA NA CSA WA EU	3175
rs4802474^1,2	C,F,A,H,	untested	38949729(+)	`TCTTGG/TTATCA`	2	--	int¹		37		EA NA NS WA CSA	3416
rs150831055^1,2	C,	untested	38949841(+)	`GAAGAC/TGTGAT`	4	D	syn¹		1		NA	4552
rs3745847^1,2	C,F,H,	untested	38949904(+)	`TGCCCT/CGTGCA`	4	/P	syn¹ ese³		19		NA NS WA CSA EA EU	6548
rs2304147^1,2	C,F,H,	untested	38950947(+)	`CATGTT/CCCCCA`	2	--	int¹		23		EA NS NA WA CSA	3844
rs2304149^1,2	C,F,H,	untested	38954040(+)	`GGTCTC/GAAGAA`	2	--	int¹		8		EA NA NS	1806
rs139339574^1,2	C,	untested	38954416(+)	`CACCCG/ATGTCT`	4	/P	syn¹		1		NA	4552
rs2228069^1,2	C,F,H,	untested	38956803(+)	`CAGACA/C/GACACT`	6	T	syn¹ ese³		35		MN NA NS EA WA CSA EU	7801
rs2228070^1,2	C,F,A,H,	untested	38956839(+)	`CACAAC/TGTGTG`	4	N	syn¹		27		MN EA NA NS WA CSA EU	9185
rs180714609^1,2	C,	untested	38956856(+)	`AGACCA/GCGTGG`	4	H R	mis¹		0	--	--	--	--
rs2228074^1,2	C,F,	untested	38956902(+)	`CCAGCG/ACGCCG`	4	/A	syn¹ ese³		2		MN NA	4408
rs111272095^1,2	C	untested	38956987(+)	`CCGTGC/TGCACC`	4	R C	mis¹		0	--	--	--	--
rs7258075^1,2	C,F,A,H,	untested	38959196(+)	`ATCCAT/GCTATC`	2	--	int¹		29		NS EA NA WA	3292
rs11083462^1,2	C,F,A,H,	untested	38959680(+)	`ATGATC/TGACCT`	4	I	syn¹		40		NA NS EA WA CSA EU	9158
rs3745850^1,2	C,F,	untested	38959871(+)	`CCATCC/TCTACC`	2	--	int¹		2		EA	1616
rs34694816^1,2	C,F,	untested	38964275(+)	`GCTGGA/GGCGAG`	4	S G	mis¹		4		NA WA	196
rs11882640^1,2	C,F,A,H,	untested	38964358(+)	`CAGCCC/TGCCAG`	4	P	syn¹ ese³		10		NS NA WA	1158
rs7258503^1,2	C,F,H,	untested	38968539(+)	`GAGGTG/ACAGGG`	2	--	int¹		6		NS EA CSA WA	538
rs35480887^1,2	C,F,	untested	38973941(+)	`ATGCCG/ATTGTC`	4	/P	syn¹		2		NA	2838
rs34934920^1,2	C,F,	untested	38976655(+)	`TCTGCC/TAGCTG`	4	P L	mis¹		6		NA EU	5469
rs2228068^1,2	C,F,O,H,	untested	38981284(+)	`TTCAAA/GGATGG`	4	K	syn¹		23		MN NA NS EA WA EU	8311
rs35364374^1,2	C,F,	untested	38983180(+)	`CCCTGG/TGCAGC`	4	G C	mis¹		6		NA EU	6053
rs11665970^1,2	C,H	untested	38983331(+)	`CATGCC/TTGCGG`	2	--	int¹		4		NS EA	418
rs117886618^1,2	C,	untested	38985104(+)	`TACGAC/G/TGGGCT`	6	D E	mis¹ syn¹		2		EA EU	1401
rs141646642^1,2	C,F,	untested	38986918(+)	`ATGCAC/G/TGAGAC`	6	H Q	mis¹ syn¹		1		NA	4552
rs193922793^1,2	C	untested	38986941(+)	`CATGGA/C/TCAACG`	6	D A V	mis¹		0	--	--	--	--
rs34390345^1,2	C,F,	untested	38989817(+)	`CAGACA/GTTGGC`	4	I V	mis¹		5		NA EU	5943
rs112563513^1,2	C	untested	38989863(+)	`CCTGCA/GCTTTG`	4	H R	mis¹		0	--	--	--	--
rs147213895^1,2	C,F,	untested	38989881(+)	`CGTCAA/GCGGTG`	4	N S	mis¹		2		NA EU	5869
rs3745851^1,2	C,	untested	38989910(+)	`CAGAGC/TGGGAA`	2	--	int¹		0	--	--	--	--
rs3745852^1,2	C,F,H,	untested	38989946(+)	`CCCTCG/AAGATG`	2	--	int¹		9		NS EA NA	1028
rs2228071^1,2	C,F,	untested	38990336(+)	`GAGTGC/TTTCGG`	4	C	syn¹		7		MN NA WA EA EU	5353
rs2229147^1,2	C,F,H,	untested	38990345(+)	`GGACCC/TGCCCT`	4	P	syn¹ ese³		23		MN NS EA NA WA EU	7219
rs146306934^1,2	C	untested	38990346(+)	`GACCCG/ACCCTG`	4	/T /A	mis¹		1		NA	4274
rs139498212^1,2	C	untested	38990349(+)	`CCGCCC/TTGCGG`	4	L	syn¹		1		NA	4264
rs78795178^1,2	C,F,	untested	38990456(+)	`CGGCGC/TGAGCA`	4	R	syn¹		2		EA NA	3372
rs12973632^1,2	C,F,	untested	38990593(+)	`GGACAC/TGCCAT`	4	H	syn¹ ese³		7		NS NA EU	5969
rs193922810^1,2	C	untested	38990624(+)	`TGATCA/G/TACCTG`	6	N D Y	mis¹		0	--	--	--	--
rs2234709^1,2	C,	untested	38990676(+)	`CAGGGC/AAGGAT`	2	--	int¹		4		NA WA EA	360
rs12981175^1,2	C	untested	38991227(+)	`CCTCTC/TCCTCC`	2	--	int¹ trp³		0	--	--	--	--
rs193922817^1,2	C	untested	38991503(+)	`CGTGCC/TGGACC`	4	P L	mis¹		1		EU	1253
rs2228072^1,2	C,F,	untested	38991516(+)	`AAGGCA/G/TTCCAT`	6	A	syn¹ ese³		11		MN NA WA CSA EA EU	6308
rs2071088^1,2	C,F,H,	untested	38991543(+)	`CGTGTG/ATATGG`	4	/V	syn¹ ese³		23		MN NA NS EA CSA WA EU	8251
rs1465698^1,2	C,F,	untested	38991600(+)	`CTGCCC/TGACAT`	4	P	syn¹ ese³		6		MN NA WA EA EU	5695
rs2960323^1,2	C,F,A,H,	untested	38991640(+)	`GCAACC/GCTGCC`	2	--	int¹		11		NA WA CSA EA EU	1070
rs193922822^1,2	C	untested	38993303(+)	`TGTCTC/G/TGGGGT`	6	R G W	mis¹		0	--	--	--	--
rs1469695^1,2	C,F,A,	untested	38993372(+)	`GGTGGA/GGCGGG`	2	--	int¹		6		NA WA EA EU	926
rs1469697^1,2	C,F	untested	38993454(+)	`ggaggG/Agcagg`	2	--	int¹ trp³		2		NA	4
rs2229142^1,2	C,F,	untested	38993547(+)	`CAGCAC/TCTGTT`	4	H	syn¹		11		MN WA NA CSA EA EU	6279
rs1469698^1,2	C,F,A,	untested	38993556(+)	`TTGCGC/G/TCGCCT`	6	R	syn¹ ese³		11		MN NA WA CSA EU	6343
rs1469699^1,2	C,F,A,	untested	38993638(+)	`ATCTCA/GTTTCC`	2	--	int¹		17		MN NA EA WA CSA	923
rs2960340^1,2	C,F,A,H,	untested	38995438(+)	`GCCATT/CGCCGG`	4	/I	syn¹		25		NS EA NA WA CSA EU	8264
rs112196644^1,2	C	untested	38995509(+)	`AGTGGA/GTGCTG`	4	D G	mis¹		0	--	--	--	--
rs2915951^1,2	C,F,A,H,	untested	38995510(+)	`GTGGAT/CGCTGA`	4	/D	syn¹ ese³		25		NA NS EA WA CSA EU	8258
rs3829976^1,2	C,	untested	38995819(+)	`ACCCCC/GCAGCC`	2	--	int¹		0	--	--	--	--
rs2915952^1,2	C,F,	untested	38995975(+)	`GGAGAG/AAACAT`	4	/E	syn¹		14		NA WA CSA EA EU	6150
rs2915953^1,2	C,F,	untested	38996066(+)	`CATTGA/GGGGTC`	2	--	int¹		8		NA WA CSA EA	367
rs2960341^1,2	C,F,	untested	38996099(+)	`GGATTC/TGGGGA`	2	--	int¹		5		NA WA	244
rs2960342^1,2	C,F,A,H,	untested	38996620(+)	`GGGCAC/TGATGG`	2	--	int¹		10		NA WA CSA EA EU	780
rs2960343^1,2	C,F,A,H,	untested	38996623(+)	`CACGAT/GGGGGG`	2	--	int¹		9		NA WA CSA EA EU	778
rs2915954^1,2	C,F,A,H,	untested	38996640(+)	`CTAGAA/GCAAGG`	2	--	int¹		11		EA NA WA CSA	551
rs2229146^1,2	C,F,A,H,	untested	38996990(+)	`CTTAGT/CGCTGT`	4	/S	syn¹ ese³		26		MN NS EA NA WA CSA EU	8228
rs112772310^1,2	C	untested	38997132(+)	`TGGCAA/GAAAAT`	4	K E	mis¹		0	--	--	--	--
rs2960345^1,2	C,F,A,	untested	38997214(+)	`CACGCT/GACCCC`	2	--	int¹		11		WA NA CSA EA	375
rs2915958^1,2	C,F,	untested	38997459(+)	`TCTTTG/CCCTCC`	2	--	int¹		12		NA WA CSA EA EU	1464
rs2915959^1,2	C,F,A,	untested	38997609(+)	`GGGGCT/ACCCGC`	2	--	int¹		9		NA CSA WA EA EU	1285
rs2960346^1,2	C,F,	untested	38997635(+)	`AGAACA/CCACCC`	2	--	int¹		10		NA WA CSA EA EU	1042
rs2960336^1,2	C,F,H,	untested	39002140(+)	`GTCCTC/TGTCTC`	2	--	int¹		19		NS EA NA WA CSA	2344
rs2960338^1,2	C,F,A,H,	untested	39002691(+)	`CCCCCC/TGGCCC`	2	--	int¹		19		NS EA NA WA CSA EU	3323
rs2071089^1,2	C,F,O,A,H,	untested	39002725(+)	`GCCCCA/GGCTGT`	4	P	syn¹ ese³		31		EA MN NA NS WA CSA EU	9777
rs2915942^1,2	C,F,A,H,	untested	39005937(+)	`GAGCCG/TCCAGG`	2	--	int¹		19		NS EA NA WA	1754
rs2960328^1,2	C,F,H,	untested	39006714(-)	`ACGGGG/ACTGTG`	2	--	int¹		6		NS EA WA	538
rs2304151^1,2	C,F,	untested	39008003(+)	`GTCCTG/AGGGCT`	4	/L	syn¹		5		WA NA EA EU	5530
rs137932199^1,2	C,F,	untested	39009932(+)	`GCTGCG/ACAAGA`	4	/H /R	mis¹		1		NA	4510
rs2229145^1,2	C,F,H,	untested	39010023(+)	`CGGGAC/TGAGTT`	4	D	syn¹ ese³		14		MN NS NA EU	5113
rs41274330^1,2	C,F,	untested	39010053(+)	`CTCTAC/TGCCCT`	4	Y	syn¹		6		NA NS EA EU	4371
rs2304152^1,2	C,F,H,	untested	39013815(+)	`GCGCCT/GGCCTT`	2	--	int¹		7		EA NS NA	1986
rs2071090^1,2	C,F,O,H,	untested	39015454(+)	`TTGGTT/CTTGGG`	2	--	int¹		32		EA NA NS CSA WA	4832
rs143987857^1,2	C,F,	untested	39016132(+)	`GACCCG/ATTACG`	4	/H /R	mis¹		2		NA EU	5619
rs2254484^1,2	C,F,A,	untested	39017378(+)	`ACCCTT/CTGCCT`	2	--	int¹		13		EA NA WA CSA	1870
rs2960354^1,2	C,F,H,	untested	39018280(-)	`TGAAGG/AGAGGA`	2	--	int¹ trp³		19		NS EA NA WA CSA EU	3055
rs55876273^1,2	C,F,	untested	39018347(+)	`GTCGCG/CAGGAG`	4	/Q /E	mis¹		2		NA EU	5575
rs908644^1,2	C,F,A,H,	untested	39018728(+)	`CCTGGC/GTCGTG`	2	--	int¹		21		MN NS EA NA WA CSA	1576
rs2945049^1,2	C,	untested	39019097(+)	`GCTGCG/AGAGAA`	2	--	int¹ trp³		2		WA	120
rs4802584^1,2	C,F,A,H,	untested	39025366(+)	`AGAAAC/GAGATG`	4	Q E	mis¹ ese³		11		NS EA NA CSA EU	6244
rs140616359^1,2	C	untested	39026638(+)	`TCAGCG/ATCCTG`	4	/I /V	mis¹		1		NA	4538
rs142518033^1,2	C,F,	untested	39026667(+)	`AGACAG/AAACAA`	4	/Q	syn¹		2		NA EU	5805
rs12979769^1,2	C	untested	39026723(+)	`CCTCCC/TTTGGG`	2	--	int¹		0	--	--	--	--
rs12979784^1,2	C	untested	39026753(+)	`TCTTCC/TTTTGG`	2	--	int¹		0	--	--	--	--
rs148399313^1,2	C	untested	39034005(+)	`CCTACG/AGACAC`	4	/Q /R	mis¹		1		NA	4552
rs45613041^1,2	C,F,	untested	39034051(+)	`TGCACT/AGTGGA`	4	/T	syn¹		4		CSA EA NA EU	5996
rs147136339^1,2	C,F,	untested	39034191(+)	`CTTCTA/GCTGGT`	4	Y C	mis¹		1		NA	4548
rs2292797^1,2	C,F,	untested	39034386(+)	`TTCCCC/GCCCAC`	2	--	int¹ trp³		1		EU	577
rs2292798^1,2	C,F,	untested	39034388(+)	`CCCCCC/TCACAC`	2	--	int¹ trp³		1		EU	579
rs2292799^1,2	C,F,	untested	39034397(+)	`ACGGCA/GCTCTG`	2	--	int¹		2		CSA EU	560
rs2945046^1,2	C,F,A,	untested	39038744(+)	`CTGTGG/CAGGGG`	2	--	int¹ trp³		10		NA WA CSA	431
rs144685735^1,2	C	untested	39038899(+)	`TCGCCC/TGGCAG`	4	R W	mis¹		1		NA	4552
rs2960339^1,2	C,F,A,H,	untested	39053691(+)	`ACTCAT/CTCTTT`	2	--	int¹		31		NA EA NS WA CSA	3133
rs113579185^1,2	C,	untested	39056291(+)	`GTGGCC/TGTGAC`	4	A	syn¹		1		NA	2
rs2960319^1,2	C,F,H,	untested	39057616(+)	`GAGCCG/AGAGAA`	4	/P	syn¹ ese³		9		NS EA NA WA	3980
rs10405261^1,2	C,F,H,	untested	39057704(+)	`TCAGGC/TCCCAA`	2	--	int¹		4		NS EA	406
rs2302296^1,2	C,H,	untested	39058515(+)	`GGAGGC/TGAATT`	4	G	syn¹		5		EA NS	1906
rs35959206^1,2	C,F,	untested	39061258(+)	`CTGTCC/GCGGAA`	4	S	syn¹		5		NA EU	6074
rs1468571^1,2	C,F,A,H,	untested	39068641(+)	`ATCACA/CGCCCA`	4	T	syn¹ ese³		30		EA MN NS NA WA CSA EU	10056
rs143988412^1,2	C	untested	39070706(+)	`TGGACA/G/TTCGCC`	6	I V F	mis¹		1		NA	4552
rs113210953^1,2	C	untested	39071125(+)	`CATGAA/GGTGTG`	4	K R	mis¹		0	--	--	--	--
rs7507518^1,2	C,H	untested	39075523(+)	`GGGGCC/TTTGGC`	2	--	int¹		4		NS EA	418
rs193922888^1,2	C	untested	39075616(+)	`TCCGGA/C/GCTGGC`	6	T P A	mis¹		0	--	--	--	--
rs2302297^1,2	C,H,	untested	39076754(+)	`GGAATC/AGGCAG`	4	/I	syn¹ ese³		5		EA NS	1166
rs146876145^1,2	C	untested	39076780(+)	`GACACC/TGCATG`	4	P L	mis¹		1		NA	4550
rs121918592^1,2	C	other	38939352(+)	`AGTACA/C/GGGGAG`	6	R G	mis¹		0	--	--	--	--
rs118192172^1,2	C	other	38948185(+)	`CTGTAC/TGCTCC`	4	R C	mis¹		1		EU	1323
rs118192175^1,2	C	other	38985204(+)	`AGATCC/TGCTCG`	4	R C	mis¹		0	--	--	--	--
rs118192176^1,2	C	other	38985219(+)	`TCATCA/GTGCAG`	4	M V	mis¹		0	--	--	--	--
rs118192177^1,2	C	other	38986923(+)	`CGAGAC/G/TGGTCA`	6	T R M	mis¹		0	--	--	--	--
rs121918593^1,2	C	other	38990633(+)	`TGCTCA/GGACGC`	4	R G	mis¹		0	--	--	--	--
rs28933397^1,2	C	other	38991294(+)	`TCCTCC/TGCTCC`	4	R C	mis¹ ese³		2		NA	4
rs121918594^1,2	C	other	38991295(+)	`CCTCCA/GCTCCC`	4	H R	mis¹		0	--	--	--	--
rs193922826^1,2	C	other	38994959(+)	`TCACAC/TGGAAA`	4	R W	mis¹		0	--	--	--	--
rs35180584^1,2	C,F,	other	38995998(+)	`GAAGAC/GCCACC`	4	T S	mis¹		6		NA WA EU	5941
rs193922847^1,2	C	other	39051805(+)	`GCTTTC/TGTGCT`	4	S L	mis¹		0	--	--	--	--
rs141444745^1,2	C	other	39058501(+)	`AGAAGG/AAGGAA`	4	/K /E	mis¹		1		NA	4536
rs121918595^1,2	C	other	39070734(+)	`GCGCAC/TCATCC`	4	T I	mis¹		0	--	--	--	--
rs3745843^1,2	C,F,H,	--	35381381(+)	`GGGCGG/AGGTGG`	1	--	int¹		8		EA NS WA NA	2278
rs75828153^1,2	F	--	35505350(+)	`AAAAAG/AGGAAA`	1	--	int¹		1		NA	4
rs76124585^1,2	F,	--	38922476(+)	`TTTAGG/CGAAAA`	2	--	us2k¹		3		WA NA EA	358
rs141764162^1,2		--	38922724(+)	`TTCTAC/TGTAAT`	2	--	us2k¹		0	--	--	--	--
rs191090628^1,2		--	38922727(+)	`TATGTA/CATTTT`	2	--	us2k¹		0	--	--	--	--
rs147076935^1,2		--	38922733(+)	`ATTTTC/GTTTAA`	2	--	us2k¹		0	--	--	--	--
rs28483482^1,2		--	38922796(+)	`AAAAAA/TTTTTT`	2	--	us2k¹ trp³		0	--	--	--	--
rs148179598^1,2		--	38922903(+)	`GATTCC/TTGTTC`	2	--	us2k¹		0	--	--	--	--
rs183643051^1,2		--	38923014(+)	`GGTCTC/TAAATT`	2	--	us2k¹		0	--	--	--	--
rs141093071^1,2		--	38923044(+)	`TCTGCC/TTTGGC`	2	--	us2k¹		0	--	--	--	--
rs114908456^1,2	C,	--	38923121(+)	`TGGACA/GTGGTG`	2	--	us2k¹		0	--	--	--	--
rs140564358^1,2		--	38923394(+)	`TCTCA-/AAAT AAATA`	2	--	us2k¹		0	--	--	--	--
rs149602284^1,2	C,	--	38923415(+)	`AAATA-/AATAATAA`	2	--	us2k¹		0	--	--	--	--
rs138701947^1,2		--	38923450(+)	`TTAACC/TAGGCA`	2	--	us2k¹		0	--	--	--	--
rs200531678^1,2		--	38923460(+)	`ACTGG-/CACTGTT`	2	--	us2k¹		0	--	--	--	--
rs78369022^1,2	C	--	38923461(+)	`CTGGCA/TCTGTT`	2	--	us2k¹		0	--	--	--	--
rs76529006^1,2	C	--	38923462(+)	`TGGCAC/GTGTTT`	2	--	us2k¹		0	--	--	--	--
rs201668893^1,2		--	38923463(+)	`GCACT-/GGTTTT`	2	--	us2k¹		0	--	--	--	--
rs189626134^1,2		--	38923478(+)	`TTTATC/TTCATT`	2	--	us2k¹		0	--	--	--	--
rs182103771^1,2		--	38923502(+)	`CATTTA/TACTCT`	2	--	us2k¹		0	--	--	--	--
rs8107027^1,2	C,F,H,	--	38923607(+)	`CAAGGG/AAGTGG`	2	--	us2k¹		23		NS EA NA WA CSA	1770
rs201399053^1,2	C	--	38923669(+)	`TTGTTC/TTNNNN`	2	--	us2k¹		0	--	--	--	--
rs141920515^1,2		--	38923804(+)	`GCTGGC/GATTAC`	2	--	us2k¹		0	--	--	--	--
rs146335382^1,2		--	38923886(+)	`GCTGGC/TCTCGA`	2	--	us2k¹		0	--	--	--	--
rs185809426^1,2		--	38923908(+)	`CAAGTG/TATCCA`	2	--	us2k¹		0	--	--	--	--
rs138270520^1,2		--	38923922(+)	`ACCTCA/GGCGTC`	2	--	us2k¹		0	--	--	--	--
rs189936786^1,2		--	38923925(+)	`TCGGCA/GTCCCA`	2	--	us2k¹		0	--	--	--	--
rs181650507^1,2		--	38924014(+)	`AAGTCA/GGGAGA`	2	--	us2k¹		0	--	--	--	--
rs76751392^1,2	F,	--	38924039(+)	`CTGCTC/ATGCTG`	2	--	us2k¹		1		WA	118
rs142610932^1,2		--	38924068(+)	`CTTCCC/TCACTC`	2	--	us2k¹		0	--	--	--	--
rs12978942^1,2	C,H	--	38924088(+)	`GTCTGC/GCCTCT`	2	--	us2k¹		4		NS EA	412
rs185595466^1,2		--	38924127(+)	`TTACCA/GTGGTG`	2	--	us2k¹		0	--	--	--	--
rs114672599^1,2	F,	--	38924156(+)	`CTCCTA/GGATAC`	2	--	us2k¹		1		WA	118
rs7256843^1,2	C,F,A,H,	--	38924172(+)	`CTCCCA/TCCCCA`	2	--	us2k¹ tfbs³		6		NS EA NA WA	420
rs190259953^1,2		--	38924368(+)	`GTCTCC/TAGAGG`	2	--	ut5¹		0	--	--	--	--
rs200665559^1,2		--	38924509(+)	`TCCTGC/TGGACG`	4	R W	mis¹		0	--	--	--	--
rs200117623^1,2		--	38924514(+)	`CGGACA/GGTGCG`	4	T	syn¹		0	--	--	--	--
rs201846538^1,2		--	38924537(+)	`AGGGGC/GCTGTG`	2	--	int¹		0	--	--	--	--
rs142207522^1,2	C,	--	38924546(+)	`TGGGGA/CTATCT`	2	--	int¹		0	--	--	--	--
rs79912670^1,2	C,F,	--	38924635(+)	`TTCCTA/GTGTCA`	2	--	int¹		3		CSA WA	124
rs199896464^1,2		--	38924708(+)	`GGATT-/GGGGGA`	2	--	int¹		0	--	--	--	--
rs180706089^1,2		--	38924856(+)	`TGGGCC/TTGATT`	2	--	int¹		0	--	--	--	--
rs150790167^1,2		--	38924963(+)	`GGACAC/TAGCTG`	2	--	int¹		0	--	--	--	--
rs78371511^1,2	C,	--	38924996(+)	`GGTCTT/CGTGGG`	2	--	int¹		3		CSA WA NA	240
rs139048961^1,2		--	38925007(+)	`GGAGGA/GATCTC`	2	--	int¹		0	--	--	--	--
rs71356805^1,2	C,F,	--	38925079(+)	`CTAATG/CGTCTT`	2	--	int¹		3		NA	124
rs117379662^1,2	C,F,	--	38925116(+)	`CCATCT/CGTCTC`	2	--	int¹		1		NA	120
rs12972895^1,2	C,	--	38925353(+)	`GGCTGC/TCATCT`	2	--	int¹		5		NA WA	422
rs111810861^1,2		--	38925714(+)	`GGCCAC/TGGCCA`	2	--	int¹		1		CSA	1
rs117592545^1,2	F,	--	38925715(+)	`GCCATG/AGCCAC`	2	--	int¹		1		EA	120
rs115346769^1,2	F,	--	38925868(+)	`CCGAAT/CGGTAG`	2	--	int¹		1		WA	118
rs73044964^1,2	C,F,	--	38925900(+)	`GCCAGG/AAAGTG`	2	--	int¹		1		NA	120
rs185936514^1,2

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RYR1 Gene

ryanodine receptor 1 (skeletal)

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for RYR1 gene

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for RYR1 gene

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for RYR1 gene

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for RYR1 gene

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for RYR1 gene

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for RYR1 gene

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Export list of displayed genes

RYR1 Gene

ryanodine receptor 1 (skeletal)

Aliasesfor RYR1 gene

Summariesfor RYR1 gene

Genomic Viewsfor RYR1 gene

Proteinsfor RYR1 gene

Protein Domains /Familiesfor RYR1 gene

Functionfor RYR1 gene

Pathways & Interactionsfor RYR1 gene

Drugs & Compoundsfor RYR1 gene

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Expression for RYR1 gene

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for RYR1 gene

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for RYR1 gene

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for RYR1 gene

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for RYR1 gene

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for RYR1 gene

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for RYR1 gene

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for RYR1 gene

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for RYR1 gene

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for RYR1 gene

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for RYR1 gene

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for RYR1 gene

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for RYR1 gene

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for RYR1 gene