T3DB: Ryanodine receptor 1

Name	Ryanodine receptor 1
Synonyms	RYDR RYR-1 Skeletal muscle calcium release channel Skeletal muscle ryanodine receptor Skeletal muscle-type ryanodine receptor Type 1 ryanodine receptor
Gene Name	RYR1
Organism	Human
Amino acid sequence	>lcl\|BSEQ0001474\|Ryanodine receptor 1 MGDAEGEDEVQFLRTDDEVVLQCSATVLKEQLKLCLAAEGFGNRLCFLEPTSNAQNVPPD LAICCFVLEQSLSVRALQEMLANTVEAGVESSQGGGHRTLLYGHAILLRHAHSRMYLSCL TTSRSMTDKLAFDVGLQEDATGEACWWTMHPASKQRSEGEKVRVGDDIILVSVSSERYLH LSTASGELQVDASFMQTLWNMNPICSRCEEGFVTGGHVLRLFHGHMDECLTISPADSDDQ RRLVYYEGGAVCTHARSLWRLEPLRISWSGSHLRWGQPLRVRHVTTGQYLALTEDQGLVV VDASKAHTKATSFCFRISKEKLDVAPKRDVEGMGPPEIKYGESLCFVQHVASGLWLTYAA PDPKALRLGVLKKKAMLHQEGHMDDALSLTRCQQEESQAARMIHSTNGLYNQFIKSLDSF SGKPRGSGPPAGTALPIEGVILSLQDLIIYFEPPSEDLQHEEKQSKLRSLRNRQSLFQEE GMLSMVLNCIDRLNVYTTAAHFAEFAGEEAAESWKEIVNLLYELLASLIRGNRSNCALFS TNLDWLVSKLDRLEASSGILEVLYCVLIESPEVLNIIQENHIKSIISLLDKHGRNHKVLD VLCSLCVCNGVAVRSNQDLITENLLPGRELLLQTNLINYVTSIRPNIFVGRAEGTTQYSK WYFEVMVDEVTPFLTAQATHLRVGWALTEGYTPYPGAGEGWGGNGVGDDLYSYGFDGLHL WTGHVARPVTSPGQHLLAPEDVISCCLDLSVPSISFRINGCPVQGVFESFNLDGLFFPVV SFSAGVKVRFLLGGRHGEFKFLPPPGYAPCHEAVLPRERLHLEPIKEYRREGPRGPHLVG PSRCLSHTDFVPCPVDTVQIVLPPHLERIREKLAENIHELWALTRIEQGWTYGPVRDDNK RLHPCLVDFHSLPEPERNYNLQMSGETLKTLLALGCHVGMADEKAEDNLKKTKLPKTYMM SNGYKPAPLDLSHVRLTPAQTTLVDRLAENGHNVWARDRVGQGWSYSAVQDIPARRNPRL VPYRLLDEATKRSNRDSLCQAVRTLLGYGYNIEPPDQEPSQVENQSRCDRVRIFRAEKSY TVQSGRWYFEFEAVTTGEMRVGWARPELRPDVELGADELAYVFNGHRGQRWHLGSEPFGR PWQPGDVVGCMIDLTENTIIFTLNGEVLMSDSGSETAFREIEIGDGFLPVCSLGPGQVGH LNLGQDVSSLRFFAICGLQEGFEPFAINMQRPVTTWFSKGLPQFEPVPLEHPHYEVSRVD GTVDTPPCLRLTHRTWGSQNSLVEMLFLRLSLPVQFHQHFRCTAGATPLAPPGLQPPAED EARAAEPDPDYENLRRSAGGWSEAENGKEGTAKEGAPGGTPQAGGEAQPARAENEKDATT EKNKKRGFLFKAKKVAMMTQPPATPTLPRLPHDVVPADNRDDPEIILNTTTYYYSVRVFA GQEPSCVWAGWVTPDYHQHDMSFDLSKVRVVTVTMGDEQGNVHSSLKCSNCYMVWGGDFV SPGQQGRISHTDLVIGCLVDLATGLMTFTANGKESNTFFQVEPNTKLFPAVFVLPTHQNV IQFELGKQKNIMPLSAAMFQSERKNPAPQCPPRLEMQMLMPVSWSRMPNHFLQVETRRAG ERLGWAVQCQEPLTMMALHIPEENRCMDILELSERLDLQRFHSHTLRLYRAVCALGNNRV AHALCSHVDQAQLLHALEDAHLPGPLRAGYYDLLISIHLESACRSRRSMLSEYIVPLTPE TRAITLFPPGRSTENGHPRHGLPGVGVTTSLRPPHHFSPPCFVAALPAAGAAEAPARLSP AIPLEALRDKALRMLGEAVRDGGQHARDPVGGSVEFQFVPVLKLVSTLLVMGIFGDEDVK QILKMIEPEVFTEEEEEEDEEEEGEEEDEEEKEEDEEETAQEKEDEEKEEEEAAEGEKEE GLEEGLLQMKLPESVKLQMCHLLEYFCDQELQHRVESLAAFAERYVDKLQANQRSRYGLL IKAFSMTAAETARRTREFRSPPQEQINMLLQFKDGTDEEDCPLPEEIRQDLLDFHQDLLA HCGIQLDGEEEEPEEETTLGSRLMSLLEKVRLVKKKEEKPEEERSAEESKPRSLQELVSH MVVRWAQEDFVQSPELVRAMFSLLHRQYDGLGELLRALPRAYTISPSSVEDTMSLLECLG QIRSLLIVQMGPQEENLMIQSIGNIMNNKVFYQHPNLMRALGMHETVMEVMVNVLGGGES KEIRFPKMVTSCCRFLCYFCRISRQNQRSMFDHLSYLLENSGIGLGMQGSTPLDVAAASV IDNNELALALQEQDLEKVVSYLAGCGLQSCPMLVAKGYPDIGWNPCGGERYLDFLRFAVF VNGESVEENANVVVRLLIRKPECFGPALRGEGGSGLLAAIEEAIRISEDPARDGPGIRRD RRREHFGEEPPEENRVHLGHAIMSFYAALIDLLGRCAPEMHLIQAGKGEALRIRAILRSL VPLEDLVGIISLPLQIPTLGKDGALVQPKMSASFVPDHKASMVLFLDRVYGIENQDFLLH VLDVGFLPDMRAAASLDTATFSTTEMALALNRYLCLAVLPLITKCAPLFAGTEHRAIMVD SMLHTVYRLSRGRSLTKAQRDVIEDCLMSLCRYIRPSMLQHLLRRLVFDVPILNEFAKMP LKLLTNHYERCWKYYCLPTGWANFGVTSEEELHLTRKLFWGIFDSLAHKKYDPELYRMAM PCLCAIAGALPPDYVDASYSSKAEKKATVDAEGNFDPRPVETLNVIIPEKLDSFINKFAE YTHEKWAFDKIQNNWSYGENIDEELKTHPMLRPYKTFSEKDKEIYRWPIKESLKAMIAWE WTIEKAREGEEEKTEKKKTRKISQSAQTYDPREGYNPQPPDLSAVTLSRELQAMAEQLAE NYHNTWGRKKKQELEAKGGGTHPLLVPYDTLTAKEKARDREKAQELLKFLQMNGYAVTRG LKDMELDSSSIEKRFAFGFLQQLLRWMDISQEFIAHLEAVVSSGRVEKSPHEQEIKFFAK ILLPLINQYFTNHCLYFLSTPAKVLGSGGHASNKEKEMITSLFCKLAALVRHRVSLFGTD APAVVNCLHILARSLDARTVMKSGPEIVKAGLRSFFESASEDIEKMVENLRLGKVSQART QVKGVGQNLTYTTVALLPVLTTLFQHIAQHQFGDDVILDDVQVSCYRTLCSIYSLGTTKN TYVEKLRPALGECLARLAAAMPVAFLEPQLNEYNACSVYTTKSPRERAILGLPNSVEEMC PDIPVLERLMADIGGLAESGARYTEMPHVIEITLPMLCSYLPRWWERGPEAPPSALPAGA PPPCTAVTSDHLNSLLGNILRIIVNNLGIDEASWMKRLAVFAQPIVSRARPELLQSHFIP TIGRLRKRAGKVVSEEEQLRLEAKAEAQEGELLVRDEFSVLCRDLYALYPLLIRYVDNNR AQWLTEPNPSAEELFRMVGEIFIYWSKSHNFKREEQNFVVQNEINNMSFLTADNKSKMAK AGDIQSGGSDQERTKKKRRGDRYSVQTSLIVATLKKMLPIGLNMCAPTDQDLITLAKTRY ALKDTDEEVREFLHNNLHLQGKVEGSPSLRWQMALYRGVPGREEDADDPEKIVRRVQEVS AVLYYLDQTEHPYKSKKAVWHKLLSKQRRRAVVACFRMTPLYNLPTHRACNMFLESYKAA WILTEDHSFEDRMIDDLSKAGEQEEEEEEVEEKKPDPLHQLVLHFSRTALTEKSKLDEDY LYMAYADIMAKSCHLEEGGENGEAEEEVEVSFEEKQMEKQRLLYQQARLHTRGAAEMVLQ MISACKGETGAMVSSTLKLGISILNGGNAEVQQKMLDYLKDKKEVGFFQSIQALMQTCSV LDLNAFERQNKAEGLGMVNEDGTVINRQNGEKVMADDEFTQDLFRFLQLLCEGHNNDFQN YLRTQTGNTTTINIIICTVDYLLRLQESISDFYWYYSGKDVIEEQGKRNFSKAMSVAKQV FNSLTEYIQGPCTGNQQSLAHSRLWDAVVGFLHVFAHMMMKLAQDSSQIELLKELLDLQK DMVVMLLSLLEGNVVNGMIARQMVDMLVESSSNVEMILKFFDMFLKLKDIVGSEAFQDYV TDPRGLISKKDFQKAMDSQKQFSGPEIQFLLSCSEADENEMINCEEFANRFQEPARDIGF NVAVLLTNLSEHVPHDPRLHNFLELAESILEYFRPYLGRIEIMGASRRIERIYFEISETN RAQWEMPQVKESKRQFIFDVVNEGGEAEKMELFVSFCEDTIFEMQIAAQISEPEGEPETD EDEGAGAAEAGAEGAEEGAAGLEGTAATAAAGATARVVAAAGRALRGLSYRSLRRRVRRL RRLTAREAATAVAALLWAAVTRAGAAGAGAAAGALGLLWGSLFGGGLVEGAKKVTVTELL AGMPDPTSDEVHGEQPAGPGGDADGEGASEGAGDAAEGAGDEEEAVHEAGPGGADGAVAV TDGGPFRPEGAGGLGDMGDTTPAEPPTPEGSPILKRKLGVDGVEEELPPEPEPEPEPELE PEKADAENGEKEEVPEPTPEPPKKQAPPSPPPKKEEAGGEFWGELEVQRVKFLNYLSRNF YTLRFLALFLAFAINFILLFYKVSDSPPGEDDMEGSAAGDVSGAGSGGSSGWGLGAGEEA EGDEDENMVYYFLEESTGYMEPALRCLSLLHTLVAFLCIIGYNCLKVPLVIFKREKELAR KLEFDGLYITEQPEDDDVKGQWDRLVLNTPSFPSNYWDKFVKRKVLDKHGDIYGRERIAE LLGMDLATLEITAHNERKPNPPPGLLTWLMSIDVKYQIWKFGVIFTDNSFLYLGWYMVMS LLGHYNNFFFAAHLLDIAMGVKTLRTILSSVTHNGKQLVMTVGLLAVVVYLYTVVAFNFF RKFYNKSEDEDEPDMKCDDMMTCYLFHMYVGVRAGGGIGDEIEDPAGDEYELYRVVFDIT FFFFVIVILLAIIQGLIIDAFGELRDQQEQVKEDMETKCFICGIGSDYFDTTPHGFETHT LEEHNLANYMFFLMYLINKDETEHTGQESYVWKMYQERCWDFFPAGDCFRKQYEDQLS
Number of residues	5038
Molecular Weight	565170.715
Theoretical pI	4.96
GO Classification	Functions calcium-release channel activity calmodulin binding voltage-gated calcium channel activity ryanodine-sensitive calcium-release channel activity calcium channel activity Processes transmembrane transport ion transmembrane transport cellular response to caffeine response to hypoxia release of sequestered calcium ion into cytosol by sarcoplasmic reticulum cytosolic calcium ion homeostasis skeletal muscle fiber development ossification involved in bone maturation muscle contraction response to caffeine calcium ion transport release of sequestered calcium ion into cytosol skin development outflow tract morphogenesis Components junctional sarcoplasmic reticulum membrane T-tubule sarcoplasmic reticulum junctional membrane complex cytoplasm smooth endoplasmic reticulum cell cortex plasma membrane terminal cisterna cytosol sarcoplasmic reticulum membrane extracellular exosome I band integral component of plasma membrane
General Function	Voltage-gated calcium channel activity
Specific 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).
Pfam Domain Function	Ion_trans (PF00520 ) MIR (PF02815 ) RIH_assoc (PF08454 ) RR_TM4-6 (PF06459 ) RYDR_ITPR (PF01365 ) RyR (PF02026 ) SPRY (PF00622 ) EF-hand_8 (PF13833 ) Ins145_P3_rec (PF08709 )
Transmembrane Regions	4327-4347 4348-4368 4560-4580 4652-4672 4781-4801 4808-4828 4840-4860 4921-4941
GenBank Protein ID	337722
UniProtKB ID	P21817
UniProtKB Entry Name	RYR1_HUMAN
Cellular Location	Sarcoplasmic reticulum membrane
Gene sequence	>lcl\|BSEQ0020483\|Ryanodine receptor 1 (RYR1) ATGGGTGACGCAGAAGGCGAAGACGAGGTCCAGTTCCTGCGGACGGACGATGAGGTGGTC CTGCAGTGCAGCGCTACCGTGCTCAAGGAGCAGCTCAAGCTCTGCCTGGCCGCCGAGGGC TTCGGCAACCGCCTGTGCTTCCTGGAGCCCACTAGCAACGCGCAGAATGTGCCCCCCGAT CTGGCCATCTGTTGCTTCGTCCTGGAGCAGTCCCTGTCTGTGCGAGCCCTGCAGGAGATG CTGGCTAACACGGTGGAGGCTGGCGTGGAGTCATCCCAGGGCGGGGGACACAGGACGCTC CTGTATGGCCATGCCATCCTGCTCCGGCATGCACACAGCCGCATGTATCTGAGCTGCCTC ACCACCTCCCGCTCCATGACTGACAAGCTGGCCTTCGATGTGGGACTGCAGGAGGACGCA ACAGGAGAGGCTTGCTGGTGGACCATGCACCCAGCCTCCAAGCAGAGGTCTGAAGGAGAA AAGGTCCGCGTTGGGGATGACATCATCCTTGTCAGTGTCTCCTCCGAGCGCTACCTGCAC CTGTCGACCGCCAGTGGGGAGCTCCAGGTTGACGCTTCCTTCATGCAGACACTATGGAAC ATGAACCCCATCTGCTCCCGCTGCGAAGAGGGCTTCGTGACGGGAGGTCACGTCCTCCGC CTCTTTCATGGACATATGGATGAGTGTCTGACCATTTCCCCTGCTGACAGTGATGACCAG CGCAGACTTGTCTACTATGAGGGGGGAGCTGTGTGCACTCATGCCCGCTCCCTCTGGAGG CTGGAGCCACTGAGAATCAGCTGGAGTGGGAGCCACCTGCGCTGGGGCCAGCCACTCCGA GTCCGGCATGTCACTACCGGGCAGTACCTAGCGCTCACCGAGGACCAGGGCCTGGTGGTG GTTGACGCCAGCAAGGCTCACACCAAGGCTACCTCCTTCTGCTTCCGCATCTCCAAGGAG AAGCTGGATGTGGCCCCCAAGCGGGATGTGGAGGGCATGGGCCCCCCTGAGATCAAGTAC GGGGAGTCACTGTGCTTCGTGCAGCATGTGGCCTCAGGACTGTGGCTCACCTATGCTGCT CCAGACCCCAAGGCCCTGCGGCTCGGCGTGCTCAAGAAGAAGGCCATGCTGCACCAGGAG GGCCACATGGACGACGCACTGTCGCTGACCCGCTGCCAGCAGGAGGAGTCCCAGGCCGCC CGCATGATCCACAGCACCAATGGCCTATACAACCAGTTCATCAAGAGCCTGGACAGCTTC AGCGGGAAGCCACGGGGCTCGGGGCCACCCGCTGGCACGGCGCTGCCCATCGAGGGCGTT ATCCTGAGCCTGCAGGACCTCATCATCTACTTCGAGCCTCCCTCCGAGGACTTGCAGCAC GAGGAGAAGCAGAGCAAGCTGCGAAGCCTGCGCAACCGCCAGAGCCTCTTCCAGGAGGAG GGGATGCTCTCCATGGTCCTGAATTGCATAGACCGCCTAAATGTCTACACCACTGCTGCC CACTTTGCTGAGTTTGCAGGGGAGGAGGCAGCCGAGTCCTGGAAAGAGATTGTGAATCTT CTCTATGAACTCCTAGCTTCTCTAATCCGTGGCAATCGTAGCAACTGTGCCCTCTTCTCC ACAAACTTGGACTGGCTGGTCAGCAAGCTGGATCGGCTGGAGGCCTCGTCTGGCATCCTG GAGGTCCTGTACTGTGTCCTCATTGAGAGTCCAGAGGTTCTGAACATCATCCAGGAGAAT CACATCAAGTCCATCATCTCCCTCCTGGACAAGCATGGGAGGAACCACAAGGTCCTGGAC GTGCTATGCTCCCTGTGTGTGTGTAATGGTGTGGCTGTACGCTCCAACCAAGATCTTATT ACTGAGAACTTGCTGCCTGGCCGTGAGCTTCTGCTGCAGACAAACCTCATCAACTATGTC ACCAGCATCCGCCCCAACATCTTTGTGGGCCGAGCGGAAGGCACCACGCAGTACAGCAAA TGGTACTTTGAGGTGATGGTGGACGAGGTGACTCCATTTCTGACAGCTCAGGCCACCCAC TTGCGGGTGGGCTGGGCCCTCACCGAGGGCTACACCCCCTACCCTGGGGCCGGCGAGGGC TGGGGCGGCAACGGGGTCGGCGATGACCTCTATTCCTACGGCTTTGATGGACTGCATCTC TGGACAGGACACGTGGCACGCCCAGTGACTTCCCCAGGGCAGCACCTCCTGGCCCCTGAA GACGTGATCAGCTGCTGCCTGGACCTCAGCGTGCCGTCCATCTCCTTCCGCATCAACGGC TGCCCCGTGCAGGGTGTCTTTGAGTCCTTCAACCTGGACGGGCTCTTCTTCCCTGTTGTC AGCTTCTCGGCTGGTGTCAAGGTGCGGTTCCTCCTTGGTGGCCGCCATGGTGAATTCAAG TTCCTGCCCCCACCTGGCTATGCTCCATGCCATGAGGCTGTGCTCCCTCGAGAGCGACTC CATCTTGAACCCATCAAGGAGTATCGACGGGAGGGGCCCCGGGGGCCTCACCTGGTGGGC CCCAGTCGCTGCCTCTCACACACCGACTTCGTGCCCTGCCCTGTGGACACTGTCCAGATT GTCCTGCCGCCCCATCTGGAGCGCATTCGGGAGAAGCTGGCGGAGAACATCCACGAGCTC TGGGCGCTAACCCGCATCGAGCAGGGCTGGACCTACGGCCCGGTTCGGGATGACAACAAG AGGCTGCACCCGTGTCTTGTGGACTTCCACAGCCTTCCAGAGCCTGAGAGGAACTACAAC CTGCAGATGTCTGGGGAGACGCTCAAGACTCTGCTGGCTCTGGGCTGCCACGTGGGCATG GCGGATGAGAAGGCGGAGGACAACCTGAAGAAGACAAAACTCCCCAAGACGTATATGATG AGCAATGGGTACAAGCCGGCTCCGCTGGACCTGAGCCACGTGCGGCTGACGCCGGCGCAG ACGACACTGGTGGACCGTCTGGCAGAAAATGGGCACAACGTGTGGGCCCGAGACCGCGTG GGCCAGGGCTGGAGCTACAGCGCAGTGCAGGACATCCCAGCGCGCCGAAACCCTCGGCTG GTGCCCTACCGCCTGCTGGATGAAGCCACCAAGCGCAGCAACCGGGACAGCCTCTGCCAG GCCGTGCGCACCCTCCTGGGCTACGGCTACAACATCGAGCCTCCTGACCAGGAGCCCAGT CAGGTGGAGAACCAGTCTCGTTGTGACCGGGTGCGCATCTTCCGGGCAGAGAAATCCTAT ACAGTGCAGAGCGGCCGCTGGTACTTCGAGTTTGAAGCAGTCACCACAGGCGAGATGCGC GTGGGCTGGGCGAGGCCCGAGCTGAGGCCTGATGTAGAGCTGGGAGCTGACGAGCTGGCC TATGTCTTCAATGGGCACCGCGGCCAGCGCTGGCACTTGGGCAGTGAACCATTTGGGCGC CCCTGGCAGCCGGGCGATGTCGTTGGCTGTATGATCGACCTCACAGAGAACACCATTATC TTCACCCTCAATGGCGAGGTCCTCATGTCTGACTCAGGCTCCGAAACAGCCTTCCGGGAG ATTGAGATTGGGGACGGCTTCCTGCCCGTCTGCAGCTTGGGACCTGGCCAGGTGGGTCAT CTGAACCTGGGCCAGGACGTGAGCTCTCTGAGGTTCTTTGCCATCTGTGGCCTCCAGGAA GGCTTCGAGCCATTTGCCATCAACATGCAGCGCCCAGTCACCACCTGGTTCAGCAAAGGC CTGCCCCAGTTTGAGCCAGTGCCCCTTGAACACCCTCACTATGAGGTATCCCGAGTGGAC GGCACTGTGGACACGCCCCCCTGCCTGCGCCTGACCCACCGCACCTGGGGCTCCCAGAAC AGCCTGGTGGAGATGCTTTTCCTGCGGCTGAGCCTCCCAGTCCAGTTCCACCAGCACTTC CGCTGCACTGCAGGGGCCACCCCGCTGGCACCTCCTGGCCTGCAGCCCCCCGCCGAGGAC GAGGCCCGGGCGGCGGAACCCGACCCTGACTACGAAAACCTGCGCCGCTCAGCTGGGGGC TGGAGCGAGGCAGAGAACGGCAAAGAAGGGACTGCGAAGGAGGGCGCCCCCGGGGGCACC CCGCAGGCGGGGGGAGAGGCGCAGCCCGCCAGGGCGGAGAATGAGAAGGATGCCACCACC GAGAAGAACAAGAAGAGAGGCTTCTTATTCAAGGCCAAGAAGGTCGCCATGATGACCCAG CCACCGGCCACCCCCACGCTGCCCCGACTCCCTCACGACGTGGTGCCTGCAGACAACCGC GATGACCCCGAGATCATCCTCAACACCACCACGTACTATTACTCCGTGAGGGTCTTTGCT GGACAGGAGCCCAGCTGCGTGTGGGCGGGCTGGGTCACCCCTGACTACCATCAGCACGAC ATGAGCTTCGACCTCAGCAAGGTCCGGGTCGTGACGGTGACCATGGGGGATGAACAAGGC AACGTCCACAGCAGCCTCAAGTGTAGCAACTGCTACATGGTGTGGGGCGGAGACTTTGTG AGTCCCGGGCAGCAGGGCCGGATCAGCCACACGGACCTTGTCATTGGGTGCCTGGTGGAC TTGGCCACTGGCTTAATGACCTTTACAGCCAATGGCAAAGAGAGCAACACCTTTTTCCAG GTGGAACCCAACACTAAGCTATTTCCTGCCGTCTTCGTCCTGCCCACCCACCAGAACGTC ATCCAGTTTGAGCTGGGGAAGCAGAAGAACATCATGCCGTTGTCAGCCGCCATGTTCCAA AGCGAGCGCAAGAACCCGGCCCCGCAGTGCCCACCGCGGCTGGAGATGCAGATGCTGATG CCAGTGTCCTGGAGCCGCATGCCCAACCACTTCCTGCAGGTGGAGACGAGGCGTGCCGGC GAGCGGCTGGGCTGGGCCGTGCAGTGCCAGGAGCCGCTGACCATGATGGCGCTGCACATC CCCGAGGAGAACCGGTGCATGGACATCCTGGAGCTGTCGGAGCGCCTGGACCTGCAGCGC TTCCACTCGCACACCCTGCGCCTCTACCGCGCTGTGTGCGCCCTGGGCAACAATCGCGTG GCGCACGCTCTGTGCAGCCACGTAGACCAAGCTCAGCTGCTGCACGCCCTGGAGGACGCG CACCTGCCAGGCCCACTGCGCGCAGGCTACTATGACCTCCTCATCAGCATCCACCTCGAA AGTGCCTGCCGCAGCCGCCGCTCCATGCTCTCTGAATACATCGTGCCCCTCACGCCTGAG ACCCGCGCCATCACGCTCTTCCCTCCTGGAAGGAGCACAGAAAATGGTCACCCCCGGCAT GGCCTGCCGGGAGTTGGAGTCACCACTTCGCTGAGGCCCCCGCATCATTTCTCGCCCCCC TGTTTCGTGGCCGCTCTGCCAGCTGCTGGGGCAGCAGAGGCCCCGGCCCGCCTCAGCCCT GCCATCCCGCTGGAGGCCCTGCGGGACAAGGCACTGAGGATGCTGGGGGAGGCGGTGCGC GACGGTGGGCAGCACGCTCGCGACCCCGTCGGGGGCTCCGTGGAGTTCCAGTTTGTGCCT GTGCTCAAGCTCGTGTCCACCCTGCTGGTGATGGGCATCTTTGGCGATGAGGATGTGAAA CAGATCTTGAAGATGATTGAGCCTGAGGTCTTCACTGAGGAAGAAGAGGAGGAGGACGAG GAGGAAGAGGGTGAAGAGGAAGATGAGGAGGAGAAGGAGGAGGATGAGGAGGAAACAGCA CAGGAAAAGGAAGATGAGGAAAAAGAGGAAGAGGAGGCAGCAGAAGGGGAGAAAGAAGAA GGCTTGGAGGAAGGGCTGCTCCAGATGAAGTTGCCAGAGTCTGTGAAGTTACAGATGTGC CACCTGCTGGAGTATTTCTGTGACCAAGAGCTGCAGCACCGTGTGGAGTCCCTGGCAGCC TTTGCGGAGCGCTATGTGGACAAGCTCCAGGCCAACCAGCGGAGCCGCTATGGCCTCCTC ATAAAAGCCTTCAGCATGACCGCAGCAGAGACTGCAAGACGTACCCGCGAGTTCCGCTCC CCACCCCAGGAACAGATCAATATGCTATTGCAATTCAAAGATGGTACAGATGAGGAAGAC TGTCCTCTCCCTGAAGAGATTCGACAGGATTTGCTTGACTTTCATCAAGACCTGCTGGCA CACTGTGGAATTCAGCTAGATGGAGAGGAGGAGGAACCAGAGGAAGAGACCACCCTGGGC AGCCGCCTCATGAGCCTGTTGGAGAAAGTGCGGCTGGTGAAGAAGAAGGAAGAGAAACCT GAGGAGGAGCGGTCAGCAGAGGAGAGCAAACCCCGGTCCCTGCAGGAGCTGGTGTCCCAC ATGGTGGTGCGCTGGGCCCAAGAGGACTTCGTGCAGAGCCCCGAGCTGGTGCGGGCCATG TTCAGCCTCCTGCACCGGCAGTACGACGGGCTGGGTGAGCTGCTGCGTGCCCTGCCGCGG GCGTACACCATCTCACCGTCCTCCGTGGAAGACACCATGAGCCTGCTCGAGTGCCTCGGC CAGATCCGCTCGCTGCTCATCGTGCAGATGGGCCCCCAGGAGGAGAACCTCATGATCCAG AGCATCGGGAACATCATGAACAACAAAGTCTTCTACCAACACCCGAACCTGATGAGGGCG CTGGGCATGCACGAGACGGTCATGGAGGTCATGGTCAACGTCCTCGGGGGCGGCGAGTCC AAGGAGATCCGCTTCCCCAAGATGGTGACAAGCTGCTGCCGCTTCCTCTGCTATTTCTGC CGAATCAGCCGGCAGAACCAGCGCTCCATGTTTGACCACCTGAGCTACCTGCTGGAGAAC AGTGGCATCGGCCTGGGCATGCAGGGCTCCACGCCCCTGGACGTGGCTGCTGCCTCCGTC ATTGACAACAATGAGCTGGCCTTGGCATTGCAGGAGCAGGACCTGGAAAAGGTTGTGTCC TACCTGGCAGGCTGTGGCCTCCAGAGCTGCCCCATGCTTGTGGCCAAAGGGTACCCAGAC ATTGGCTGGAACCCCTGTGGTGGAGAGCGCTACCTGGACTTCCTGCGCTTTGCTGTCTTC GTCAACGGCGAGAGCGTGGAGGAGAACGCCAATGTGGTGGTGCGGCTGCTCATCCGGAAG CCTGAGTGCTTCGGACCCGCCCTGCGGGGTGAGGGTGGCTCAGGGCTGCTGGCTGCCATC GAAGAGGCCATCCGCATCTCCGAGGACCCTGCGAGGGATGGCCCAGGCATCCGCAGGGAC CGGCGGCGCGAGCACTTTGGTGAGGAACCGCCTGAAGAAAACCGGGTGCACCTGGGACAC GCCATCATGTCCTTCTATGCCGCCTTGATCGACCTGCTCGGACGCTGTGCACCAGAGATG CATCTAATCCAAGCCGGCAAGGGTGAGGCCCTGCGGATCCGCGCCATCCTCCGCTCCCTT GTGCCCTTGGAGGACCTTGTGGGCATCATCAGCCTCCCACTGCAGATTCCCACCCTGGGC AAAGATGGGGCTCTGGTGCAGCCAAAGATGTCAGCATCCTTCGTGCCGGACCACAAGGCG TCCATGGTGCTCTTCCTGGACCGTGTGTATGGCATCGAGAACCAGGACTTCTTGCTGCAC GTGCTGGACGTGGGGTTCCTGCCCGACATGAGGGCAGCCGCCTCGCTGGACACGGCCACT TTCAGCACCACCGAGATGGCGCTGGCGCTGAACCGCTACCTGTGCCTGGCCGTGCTGCCG CTCATCACCAAGTGTGCGCCGCTCTTTGCGGGCACAGAACACCGCGCCATCATGGTGGAC TCTATGCTGCATACCGTGTACCGCCTGTCTCGGGGTCGTTCGCTCACCAAGGCGCAGCGT GACGTCATCGAGGACTGCCTCATGTCGCTCTGCAGGTACATCCGCCCGTCGATGCTGCAG CACCTGTTGCGCCGCCTGGTGTTCGACGTGCCCATCCTCAACGAGTTCGCCAAGATGCCA CTCAAGCTCCTCACCAACCACTATGAGCGCTGTTGGAAGTACTACTGCCTACCCACGGGC TGGGCCAACTTCGGGGTCACCTCAGAGGAGGAGCTGCACCTCACACGGAAACTCTTCTGG GGCATCTTTGACTCTCTGGCCCATAAGAAATACGACCCGGAGCTGTACCGCATGGCCATG CCTTGTCTGTGCGCCATTGCCGGGGCTCTGCCCCCCGACTATGTGGATGCCTCATACTCA TCTAAGGCAGAGAAAAAGGCCACAGTGGATGCTGAAGGCAACTTTGATCCCCGGCCTGTG GAGACCCTCAATGTGATCATCCCGGAGAAGCTGGACTCCTTCATTAACAAGTTTGCGGAG TACACACACGAGAAGTGGGCCTTCGACAAGATCCAGAACAACTGGTCCTATGGAGAGAAC ATAGACGAGGAGCTGAAGACCCACCCCATGCTGAGGCCCTACAAGACCTTTTCAGAGAAG GACAAAGAGATTTACCGCTGGCCCATCAAGGAGTCCCTGAAGGCCATGATTGCCTGGGAA TGGACGATAGAGAAGGCCAGGGAGGGTGAGGAGGAGAAGACGGAAAAGAAAAAAACGCGG AAGATATCACAAAGTGCCCAGACCTATGATCCTCGAGAAGGCTACAACCCTCAGCCCCCC GACCTTAGTGCTGTTACCCTGTCCCGGGAGCTGCAGGCCATGGCAGAACAACTGGCAGAA AATTACCACAACACGTGGGGACGGAAGAAGAAGCAGGAGCTGGAAGCCAAAGGCGGTGGG ACCCACCCCCTGCTGGTCCCCTACGACACGCTCACGGCCAAGGAGAAGGCACGAGATCGA GAGAAGGCCCAGGAGCTACTGAAATTCCTGCAGATGAATGGCTACGCGGTTACAAGAGGC CTTAAGGACATGGAACTGGACTCGTCTTCCATTGAAAAGCGGTTTGCCTTTGGCTTCCTG CAGCAGCTGCTGCGCTGGATGGACATTTCTCAGGAGTTCATTGCCCACCTGGAGGCTGTG GTCAGCAGTGGGCGAGTGGAAAAGTCCCCACATGAACAGGAGATTAAATTCTTTGCCAAG ATCCTGCTCCCTTTGATCAACCAGTACTTCACCAACCACTGCCTCTATTTCTTGTCCACT CCGGCTAAAGTGCTGGGCAGCGGTGGCCACGCCTCTAACAAGGAGAAGGAAATGATCACC AGCCTCTTCTGCAAACTTGCTGCTCTCGTCCGCCACCGAGTCTCTCTCTTTGGGACAGAC GCCCCAGCTGTGGTCAACTGTCTTCACATCCTGGCCCGCTCCCTGGATGCCAGGACAGTG ATGAAGTCAGGCCCTGAGATCGTGAAGGCTGGCCTCCGCTCCTTCTTCGAGAGTGCCTCG GAGGACATCGAGAAGATGGTGGAGAACCTGCGGCTGGGCAAGGTGTCGCAGGCGCGCACC CAGGTGAAAGGCGTGGGCCAGAACCTCACCTACACCACTGTGGCACTGCTGCCGGTCCTC ACCACCCTCTTCCAGCACATCGCCCAGCACCAGTTCGGAGATGACGTCATCCTGGACGAC GTCCAGGTCTCTTGCTACCGAACGCTGTGCAGTATCTACTCCCTGGGAACCACCAAGAAC ACTTATGTGGAAAAGCTTCGGCCAGCCCTCGGGGAGTGCCTGGCCCGTCTGGCAGCAGCC ATGCCGGTGGCGTTCCTGGAGCCGCAGCTGAACGAGTACAACGCCTGCTCCGTGTACACC ACCAAGTCTCCGCGGGAGCGGGCCATCCTGGGGCTCCCCAACAGTGTGGAGGAGATGTGT CCCGACATCCCGGTGCTGGAGCGGCTCATGGCAGACATTGGGGGGCTGGCCGAGTCAGGT GCCCGCTACACAGAGATGCCGCATGTCATCGAGATCACGCTGCCCATGCTATGCAGCTAC CTGCCCCGATGGTGGGAGCGCGGGCCCGAGGCACCCCCTTCCGCCCTGCCCGCCGGCGCC CCCCCACCCTGCACAGCTGTCACCTCTGACCACCTCAACTCCCTGCTGGGGAATATCCTG AGAATCATCGTCAACAACCTGGGCATTGACGAGGCCTCCTGGATGAAGCGGCTGGCTGTG TTCGCACAGCCCATTGTGAGCCGTGCACGGCCGGAGCTCCTGCAGTCCCACTTCATCCCA ACTATCGGGCGGCTGCGCAAGAGGGCAGGGAAGGTGGTGTCCGAGGAGGAGCAGCTGCGC CTGGAGGCCAAGGCGGAGGCCCAGGAGGGCGAGCTGCTGGTGCGGGACGAGTTCTCTGTG CTCTGCCGGGACCTCTACGCCCTGTATCCGCTGCTCATCCGCTACGTGGACAACAACAGG GCGCAGTGGCTGACGGAGCCGAATCCCAGCGCGGAGGAGCTGTTCAGGATGGTGGGCGAG ATCTTCATCTACTGGTCCAAGTCCCACAACTTCAAGCGCGAGGAGCAGAACTTTGTGGTC CAGAATGAGATCAACAACATGTCCTTCCTGACTGCTGACAACAAAAGCAAAATGGCTAAG GCGGGAGATATACAGTCCGGTGGCTCGGACCAGGAACGCACCAAGAAGAAGCGCCGGGGG GACCGGTACTCTGTGCAGACGTCACTGATCGTGGCCACACTGAAGAAGATGCTGCCCATC GGCCTGAATATGTGTGCGCCCACCGACCAAGACCTCATCACGCTGGCCAAGACCCGTTAC GCCCTGAAAGACACAGATGAGGAGGTCCGGGAATTTCTGCACAACAACCTTCACCTTCAG GGAAAGGTCGAAGGCTCCCCGTCTCTGCGCTGGCAGATGGCTCTGTACCGGGGCGTCCCG GGTCGCGAGGAGGACGCCGATGACCCCGAGAAAATCGTGCGCAGAGTCCAGGAAGTGTCA GCCGTGCTCTACTACCTGGACCAGACCGAGCACCCTTACAAGTCTAAGAAGGCCGTGTGG CACAAGCTTTTGTCCAAACAGCGCCGGCGGGCAGTCGTGGCCTGTTTCCGTATGACGCCC CTGTACAACCTGCCCACGCACCGGGCATGTAACATGTTCCTGGAGAGCTACAAGGCTGCA TGGATCCTGACTGAAGACCACAGTTTTGAGGACCGCATGATAGATGACCTTTCAAAAGCT GGGGAGCAGGAGGAGGAGGAGGAAGAGGTGGAAGAGAAGAAGCCAGACCCCCTGCACCAG TTGGTCCTGCACTTCAGCCGCACTGCCCTGACGGAAAAGAGCAAACTGGATGAGGATTAC CTGTACATGGCCTATGCTGATATCATGGCAAAGAGCTGCCACCTGGAGGAGGGAGGGGAG AACGGTGAAGCTGAAGAGGAGGTTGAGGTCTCCTTTGAGGAGAAACAGATGGAGAAGCAG AGGCTCTTGTACCAGCAAGCACGGCTGCACACCCGGGGGGCGGCCGAGATGGTGCTGCAG ATGATCAGTGCCTGCAAAGGAGAGACAGGTGCCATGGTGTCCTCCACCCTGAAGCTGGGC ATCTCCATCCTCAATGGAGGCAATGCTGAGGTCCAGCAGAAAATGCTGGATTATCTTAAG GACAAGAAGGAAGTTGGCTTCTTCCAGAGTATCCAGGCACTGATGCAAACATGCAGCGTC CTGGATCTCAATGCCTTTGAGAGACAGAACAAGGCCGAGGGGCTGGGCATGGTGAATGAG GATGGCACTGTCATCAATCGCCAGAACGGAGAGAAGGTCATGGCGGATGATGAATTCACA CAAGACCTGTTCCGATTCCTACAATTGCTCTGTGAGGGGCACAATAATGATTTCCAGAAC TACCTACGGACACAGACAGGGAACACGACCACTATTAACATCATCATTTGCACTGTGGAC TACCTCCTGCGGCTGCAGGAATCCATCAGCGACTTCTACTGGTACTACTCGGGCAAGGAT GTCATTGAAGAGCAGGGCAAGAGGAACTTCTCCAAAGCCATGTCGGTGGCTAAGCAGGTG TTCAACAGCCTCACTGAGTACATCCAGGGTCCCTGCACCGGGAACCAGCAGAGCCTGGCG CACAGTCGCCTATGGGACGCAGTGGTGGGATTCCTGCACGTGTTCGCCCACATGATGATG AAGCTCGCTCAGGACTCAAGCCAGATCGAGCTGCTGAAGGAGCTGCTGGATCTGCAGAAG GACATGGTGGTGATGTTGCTGTCGCTACTAGAAGGGAACGTGGTGAACGGCATGATCGCC CGGCAGATGGTGGACATGCTCGTGGAATCCTCATCCAATGTGGAGATGATCCTCAAGTTC TTCGACATGTTCCTGAAACTCAAGGACATTGTGGGCTCTGAAGCCTTCCAGGACTACGTA ACGGATCCCCGTGGCCTCATCTCCAAGAAGGACTTCCAGAAGGCCATGGACAGCCAGAAG CAGTTCAGCGGTCCAGAAATCCAGTTCCTGCTTTCGTGCTCCGAAGCGGATGAGAACGAA ATGATCAACTGCGAAGAGTTCGCCAACCGCTTCCAGGAGCCAGCACGCGACATCGGCTTC AACGTGGCGGTGCTGCTGACCAACCTGTCGGAGCATGTGCCGCATGACCCTCGCCTGCAC AACTTCCTGGAGCTGGCCGAGAGCATCCTTGAGTACTTCCGCCCCTACCTGGGCCGCATC GAGATCATGGGCGCGTCACGCCGCATCGAGCGCATCTACTTCGAGATCTCAGAGACCAAC CGCGCCCAGTGGGAGATGCCCCAGGTGAAGGAGTCCAAGCGCCAGTTCATCTTCGACGTG GTGAACGAGGGCGGCGAGGCTGAGAAGATGGAGCTCTTCGTGAGTTTCTGCGAGGACACC ATCTTCGAGATGCAGATCGCCGCGCAGATCTCGGAGCCCGAGGGCGAGCCGGAGACCGAC GAGGACGAGGGCGCGGGCGCGGCGGAGGCGGGCGCGGAAGGCGCGGAGGAGGGCGCGGCG GGGCTCGAGGGCACGGCGGCCACGGCGGCGGCGGGGGCGACGGCGCGGGTTGTGGCGGCC GCAGGCCGGGCCCTGCGAGGCCTCAGCTACCGCAGCCTGCGGCGGCGCGTGCGGCGGCTG CGGCGGCTTACGGCCCGCGAGGCGGCCACCGCAGTGGCGGCGCTGCTCTGGGCAGCAGTG ACGCGCGCTGGGGCCGCTGGCGCGGGGGCGGCGGCGGGCGCGCTGGGCCTGCTCTGGGGC TCGCTGTTCGGCGGCGGCCTGGTGGAGGGCGCCAAGAAGGTGACGGTGACCGAGCTCCTG GCAGGCATGCCCGACCCCACCAGCGACGAGGTGCACGGCGAGCAGCCGGCCGGGCCGGGC GGAGACGCAGACGGCGAGGGTGCCAGCGAGGGCGCTGGAGACGCCGCGGAGGGCGCTGGA GACGAGGAGGAGGCGGTGCACGAGGCCGGGCCGGGCGGTGCCGACGGGGCGGTGGCCGTG ACCGATGGGGGCCCCTTCCGGCCCGAAGGGGCTGGCGGTCTCGGGGACATGGGGGACACG ACGCCTGCGGAACCGCCCACACCCGAGGGCTCTCCCATCCTCAAGAGGAAATTGGGGGTG GATGGAGTGGAGGAGGAGCTCCCGCCAGAGCCAGAGCCCGAGCCGGAACCAGAGCTGGAG CCGGAGAAAGCCGATGCCGAGAATGGGGAGAAGGAAGAAGTTCCCGAGCCCACACCAGAG CCCCCCAAGAAGCAAGCACCTCCCTCACCCCCTCCAAAGAAGGAGGAAGCTGGAGGCGAA TTCTGGGGAGAACTGGAGGTGCAGAGGGTGAAGTTCCTGAACTACCTGTCCCGGAACTTT TACACCCTGCGGTTCCTTGCCCTCTTCTTGGCATTTGCCATCAACTTCATCTTGCTGTTT TATAAGGTCTCAGACTCTCCACCAGGGGAGGACGACATGGAAGGCTCAGCTGCTGGGGAT GTGTCAGGTGCAGGCTCTGGTGGCAGCTCTGGCTGGGGCTTGGGGGCCGGAGAGGAGGCA GAGGGCGATGAGGATGAGAACATGGTGTACTACTTCCTGGAGGAAAGCACAGGCTACATG GAACCCGCCCTGCGGTGTCTGAGCCTCCTGCATACACTGGTGGCCTTTCTCTGCATCATT GGCTATAATTGTCTCAAGGTGCCCCTGGTAATCTTTAAGCGGGAGAAGGAGCTGGCCCGG AAGCTGGAGTTTGATGGCCTGTACATCACGGAGCAGCCTGAGGACGATGACGTGAAGGGG CAGTGGGACCGACTGGTGCTCAACACGCCGTCTTTCCCTAGCAACTACTGGGACAAGTTT GTCAAGCGCAAGGTCCTGGACAAACATGGGGACATCTACGGGCGGGAGCGGATTGCTGAG CTACTGGGCATGGACCTGGCCACACTAGAGATCACAGCCCACAATGAGCGCAAGCCCAAC CCGCCGCCAGGGCTGCTGACCTGGCTCATGTCCATCGATGTCAAGTACCAGATCTGGAAG TTCGGGGTCATCTTCACAGACAACTCCTTCCTGTACCTGGGCTGGTATATGGTGATGTCC CTCTTGGGACACTACAACAACTTCTTCTTTGCTGCCCATCTCCTGGACATCGCCATGGGG GTCAAGACGCTGCGCACCATCCTGTCCTCTGTCACCCACAATGGGAAACAGCTGGTGATG ACCGTGGGCCTTCTGGCGGTGGTCGTCTACCTGTACACCGTGGTGGCCTTCAACTTCTTC CGCAAGTTCTACAACAAGAGCGAGGATGAGGATGAACCTGACATGAAGTGTGATGACATG ATGACGTGTTACCTGTTTCACATGTACGTGGGTGTCCGGGCTGGCGGAGGCATTGGGGAC GAGATCGAGGACCCCGCGGGTGACGAATACGAGCTCTACAGGGTGGTCTTCGACATCACC TTCTTCTTCTTCGTCATCGTCATCCTGTTGGCCATCATCCAGGGTCTGATCATCGACGCT TTTGGTGAGCTCCGAGACCAACAAGAGCAAGTGAAGGAGGATATGGAGACCAAGTGCTTC ATCTGTGGAATCGGCAGTGACTACTTTGATACGACACCGCATGGCTTCGAGACTCACACG CTGGAGGAGCACAACCTGGCCAATTACATGTTTTTCCTGATGTATTTGATAAACAAGGAT GAGACAGAACACACGGGTCAGGAGTCTTATGTCTGGAAGATGTACCAAGAGAGATGTTGG GATTTCTTCCCAGCTGGTGATTGTTTCCGTAAGCAGTATGAGGACCAGCTTAGCTGA
GenBank Gene ID	J05200
GeneCard ID	Not Available
GenAtlas ID	RYR1
HGNC ID	HGNC:10483
Chromosome Location	19
Locus	19q13.1
References	Zorzato F, Fujii J, Otsu K, Phillips M, Green NM, Lai FA, Meissner G, MacLennan DH: Molecular cloning of cDNA encoding human and rabbit forms of the Ca2+ release channel (ryanodine receptor) of skeletal muscle sarcoplasmic reticulum. J Biol Chem. 1990 Feb 5;265(4):2244-56. 2298749 Gillard EF, Otsu K, Fujii J, Duff C, de Leon S, Khanna VK, Britt BA, Worton RG, MacLennan DH: Polymorphisms and deduced amino acid substitutions in the coding sequence of the ryanodine receptor (RYR1) gene in individuals with malignant hyperthermia. Genomics. 1992 Aug;13(4):1247-54. 1354642 Zhang Y, Chen HS, Khanna VK, De Leon S, Phillips MS, Schappert K, Britt BA, Browell AK, MacLennan DH: A mutation in the human ryanodine receptor gene associated with central core disease. Nat Genet. 1993 Sep;5(1):46-50. 8220422 Phillips MS, Fujii J, Khanna VK, DeLeon S, Yokobata K, de Jong PJ, MacLennan DH: The structural organization of the human skeletal muscle ryanodine receptor (RYR1) gene. 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Nature. 2004 Apr 1;428(6982):529-35. 15057824 Otsu K, Phillips MS, Khanna VK, de Leon S, MacLennan DH: Refinement of diagnostic assays for a probable causal mutation for porcine and human malignant hyperthermia. Genomics. 1992 Jul;13(3):835-7. 1639409 Gillard EF, Otsu K, Fujii J, Khanna VK, de Leon S, Derdemezi J, Britt BA, Duff CL, Worton RG, MacLennan DH: A substitution of cysteine for arginine 614 in the ryanodine receptor is potentially causative of human malignant hyperthermia. Genomics. 1991 Nov;11(3):751-5. 1774074 Moroni I, Gonano EF, Comi GP, Tegazzin V, Prelle A, Bordoni A, Bresolin N, Scarlato G: Ryanodine receptor gene point mutation and malignant hyperthermia susceptibility. J Neurol. 1995 Feb;242(3):127-33. 7751854 Lynn S, Morgan JM, Lamb HK, Meissner G, Gillespie JI: Isolation and partial cloning of ryanodine-sensitive Ca2+ release channel protein isoforms from human myometrial smooth muscle. FEBS Lett. 1995 Sep 18;372(1):6-12. 7556644 Martin C, Chapman KE, Seckl JR, Ashley RH: Partial cloning and differential expression of ryanodine receptor/calcium-release channel genes in human tissues including the hippocampus and cerebellum. Neuroscience. 1998 Jul;85(1):205-16. 9607712 Sun J, Xin C, Eu JP, Stamler JS, Meissner G: Cysteine-3635 is responsible for skeletal muscle ryanodine receptor modulation by NO. Proc Natl Acad Sci U S A. 2001 Sep 25;98(20):11158-62. Epub 2001 Sep 18. 11562475 Wright NT, Prosser BL, Varney KM, Zimmer DB, Schneider MF, Weber DJ: S100A1 and calmodulin compete for the same binding site on ryanodine receptor. J Biol Chem. 2008 Sep 26;283(39):26676-83. doi: 10.1074/jbc.M804432200. Epub 2008 Jul 23. 18650434 Bellinger AM, Reiken S, Dura M, Murphy PW, Deng SX, Landry DW, Nieman D, Lehnart SE, Samaru M, LaCampagne A, Marks AR: Remodeling of ryanodine receptor complex causes "leaky" channels: a molecular mechanism for decreased exercise capacity. Proc Natl Acad Sci U S A. 2008 Feb 12;105(6):2198-202. doi: 10.1073/pnas.0711074105. Epub 2008 Feb 11. 18268335 Han G, Ye M, Zhou H, Jiang X, Feng S, Jiang X, Tian R, Wan D, Zou H, Gu J: Large-scale phosphoproteome analysis of human liver tissue by enrichment and fractionation of phosphopeptides with strong anion exchange chromatography. Proteomics. 2008 Apr;8(7):1346-61. doi: 10.1002/pmic.200700884. 18318008 Lanner JT, Georgiou DK, Joshi AD, Hamilton SL: Ryanodine receptors: structure, expression, molecular details, and function in calcium release. Cold Spring Harb Perspect Biol. 2010 Nov;2(11):a003996. doi: 10.1101/cshperspect.a003996. Epub 2010 Oct 20. 20961976 Bohm J, Leshinsky-Silver E, Vassilopoulos S, Le Gras S, Lerman-Sagie T, Ginzberg M, Jost B, Lev D, Laporte J: Samaritan myopathy, an ultimately benign congenital myopathy, is caused by a RYR1 mutation. Acta Neuropathol. 2012 Oct;124(4):575-81. doi: 10.1007/s00401-012-1007-3. Epub 2012 Jul 3. 22752422 Quane KA, Healy JM, Keating KE, Manning BM, Couch FJ, Palmucci LM, Doriguzzi C, Fagerlund TH, Berg K, Ording H, et al.: Mutations in the ryanodine receptor gene in central core disease and malignant hyperthermia. Nat Genet. 1993 Sep;5(1):51-5. 8220423 Quane KA, Keating KE, Healy JM, Manning BM, Krivosic-Horber R, Krivosic I, Monnier N, Lunardi J, McCarthy TV: Mutation screening of the RYR1 gene in malignant hyperthermia: detection of a novel Tyr to Ser mutation in a pedigree with associated central cores. Genomics. 1994 Sep 1;23(1):236-9. 7829078 Quane KA, Keating KE, Manning BM, Healy JM, Monsieurs K, Heffron JJ, Lehane M, Heytens L, Krivosic-Horber R, Adnet P, et al.: Detection of a novel common mutation in the ryanodine receptor gene in malignant hyperthermia: implications for diagnosis and heterogeneity studies. Hum Mol Genet. 1994 Mar;3(3):471-6. 8012359 Keating KE, Quane KA, Manning BM, Lehane M, Hartung E, Censier K, Urwyler A, Klausnitzer M, Muller CR, Heffron JJ, et al.: Detection of a novel RYR1 mutation in four malignant hyperthermia pedigrees. Hum Mol Genet. 1994 Oct;3(10):1855-8. 7849712 Phillips MS, Khanna VK, De Leon S, Frodis W, Britt BA, MacLennan DH: The substitution of Arg for Gly2433 in the human skeletal muscle ryanodine receptor is associated with malignant hyperthermia. Hum Mol Genet. 1994 Dec;3(12):2181-6. 7881417 Lynch PJ, Krivosic-Horber R, Reyford H, Monnier N, Quane K, Adnet P, Haudecoeur G, Krivosic I, McCarthy T, Lunardi J: Identification of heterozygous and homozygous individuals with the novel RYR1 mutation Cys35Arg in a large kindred. 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J Med Genet. 1997 Apr;34(4):291-6. 9138151 Manning BM, Quane KA, Ording H, Urwyler A, Tegazzin V, Lehane M, O'Halloran J, Hartung E, Giblin LM, Lynch PJ, Vaughan P, Censier K, Bendixen D, Comi G, Heytens L, Monsieurs K, Fagerlund T, Wolz W, Heffron JJ, Muller CR, McCarthy TV: Identification of novel mutations in the ryanodine-receptor gene (RYR1) in malignant hyperthermia: genotype-phenotype correlation. Am J Hum Genet. 1998 Mar;62(3):599-609. 9497245 Manning BM, Quane KA, Lynch PJ, Urwyler A, Tegazzin V, Krivosic-Horber R, Censier K, Comi G, Adnet P, Wolz W, Lunardi J, Muller CR, McCarthy TV: Novel mutations at a CpG dinucleotide in the ryanodine receptor in malignant hyperthermia. Hum Mutat. 1998;11(1):45-50. 9450902 Brandt A, Schleithoff L, Jurkat-Rott K, Klingler W, Baur C, Lehmann-Horn F: Screening of the ryanodine receptor gene in 105 malignant hyperthermia families: novel mutations and concordance with the in vitro contracture test. Hum Mol Genet. 1999 Oct;8(11):2055-62. 10484775 Barone V, Massa O, Intravaia E, Bracco A, Di Martino A, Tegazzin V, Cozzolino S, Sorrentino V: Mutation screening of the RYR1 gene and identification of two novel mutations in Italian malignant hyperthermia families. J Med Genet. 1999 Feb;36(2):115-8. 10051009 Lynch PJ, Tong J, Lehane M, Mallet A, Giblin L, Heffron JJ, Vaughan P, Zafra G, MacLennan DH, McCarthy TV: A mutation in the transmembrane/luminal domain of the ryanodine receptor is associated with abnormal Ca2+ release channel function and severe central core disease. Proc Natl Acad Sci U S A. 1999 Mar 30;96(7):4164-9. 10097181 Chamley D, Pollock NA, Stowell KM, Brown RL: Malignant hyperthermia in infancy and identification of novel RYR1 mutation. Br J Anaesth. 2000 Apr;84(4):500-4. 10823104 Brown RL, Pollock AN, Couchman KG, Hodges M, Hutchinson DO, Waaka R, Lynch P, McCarthy TV, Stowell KM: A novel ryanodine receptor mutation and genotype-phenotype correlation in a large malignant hyperthermia New Zealand Maori pedigree. Hum Mol Genet. 2000 Jun 12;9(10):1515-24. 10888602 Gencik M, Gencik A, Mortier W, Epplen JT: Novel mutation in the RYR1 gene (R2454C) in a patient with malignant hyperthermia. Hum Mutat. 2000 Jan;15(1):122. 10612851 Scacheri PC, Hoffman EP, Fratkin JD, Semino-Mora C, Senchak A, Davis MR, Laing NG, Vedanarayanan V, Subramony SH: A novel ryanodine receptor gene mutation causing both cores and rods in congenital myopathy. Neurology. 2000 Dec 12;55(11):1689-96. 11113224 Sambuughin N, McWilliams S, de Bantel A, Sivakumar K, Nelson TE: Single-amino-acid deletion in the RYR1 gene, associated with malignant hyperthermia susceptibility and unusual contraction phenotype. Am J Hum Genet. 2001 Jul;69(1):204-8. Epub 2001 May 29. 11389482 Sambuughin N, Sei Y, Gallagher KL, Wyre HW, Madsen D, Nelson TE, Fletcher JE, Rosenberg H, Muldoon SM: North American malignant hyperthermia population: screening of the ryanodine receptor gene and identification of novel mutations. Anesthesiology. 2001 Sep;95(3):594-9. 11575529 Monnier N, Romero NB, Lerale J, Landrieu P, Nivoche Y, Fardeau M, Lunardi J: Familial and sporadic forms of central core disease are associated with mutations in the C-terminal domain of the skeletal muscle ryanodine receptor. Hum Mol Genet. 2001 Oct 15;10(22):2581-92. 11709545 Tilgen N, Zorzato F, Halliger-Keller B, Muntoni F, Sewry C, Palmucci LM, Schneider C, Hauser E, Lehmann-Horn F, Muller CR, Treves S: Identification of four novel mutations in the C-terminal membrane spanning domain of the ryanodine receptor 1: association with central core disease and alteration of calcium homeostasis. Hum Mol Genet. 2001 Dec 1;10(25):2879-87. 11741831 Rueffert H, Kraus H, Olthoff D, Deutrich C, Froster UG: Identification of a novel mutation in the ryanodine receptor gene (RYR1) in patients with malignant hyperthermia. Hum Mutat. 2001 Mar;17(3):238. 11241852 Sambuughin N, Nelson TE, Jankovic J, Xin C, Meissner G, Mullakandov M, Ji J, Rosenberg H, Sivakumar K, Goldfarb LG: Identification and functional characterization of a novel ryanodine receptor mutation causing malignant hyperthermia in North American and South American families. Neuromuscul Disord. 2001 Sep;11(6-7):530-7. 11525881 Rueffert H, Olthoff D, Deutrich C, Meinecke CD, Froster UG: Mutation screening in the ryanodine receptor 1 gene (RYR1) in patients susceptible to malignant hyperthermia who show definite IVCT results: identification of three novel mutations. Acta Anaesthesiol Scand. 2002 Jul;46(6):692-8. 12059893 Monnier N, Krivosic-Horber R, Payen JF, Kozak-Ribbens G, Nivoche Y, Adnet P, Reyford H, Lunardi J: Presence of two different genetic traits in malignant hyperthermia families: implication for genetic analysis, diagnosis, and incidence of malignant hyperthermia susceptibility. Anesthesiology. 2002 Nov;97(5):1067-74. 12411788 Ferreiro A, Monnier N, Romero NB, Leroy JP, Bonnemann C, Haenggeli CA, Straub V, Voss WD, Nivoche Y, Jungbluth H, Lemainque A, Voit T, Lunardi J, Fardeau M, Guicheney P: A recessive form of central core disease, transiently presenting as multi-minicore disease, is associated with a homozygous mutation in the ryanodine receptor type 1 gene. 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