Protein name:
Ryanodine receptor 1 (RYR-1;RyR1) ;
Alternative:
Skeletal muscle-type ryanodine receptor ;Skeletal muscle calcium release channel ;Type 1 ryanodine receptor ;Skeletal muscle-type ryanodine receptor ;
Organism:
Human (Homo sapiens).
General Annotation
Function:
Communication between transverse-tubules and sarcoplasmic reticulum. Contraction of skeletal muscle is triggered by release of calcium ions from SR following depolarization of T-tubules.
Subcellular Location:
Membrane
Multi-pass membrane protein
Protein Attributes:
50:
MGDAEGEDEV | QFLRTDDEVV | LQCSATVLKE | QLKLCLAAEG | FGNRLCFLEP |
100:
TSNAQNVPPD | LAICCFVLEQ | SLSVRALQEM | LANTVEAGVE | SSQGGGHRTL |
150:
LYGHAILLRH | AHSRMYLSCL | TTSRSMTDKL | AFDVGLQEDA | TGEACWWTMH |
200:
PASKQRSEGE | KVRVGDDIIL | VSVSSERYLH | LSTASGELQV | DASFMQTLWN |
250:
MNPICSRCEE | GFVTGGHVLR | LFHGHMDECL | TISPADSDDQ | RRLVYYEGGA |
300:
VCTHARSLWR | LEPLRISWSG | SHLRWGQPLR | VRHVTTGQYL | ALTEDQGLVV |
350:
VDASKAHTKA | TSFCFRISKE | KLDVAPKRDV | EGMGPPEIKY | GESLCFVQHV |
400:
ASGLWLTYAA | PDPKALRLGV | LKKKAMLHQE | GHMDDALSLT | RCQQEESQAA |
450:
RMIHSTNGLY | NQFIKSLDSF | SGKPRGSGPP | AGTALPIEGV | ILSLQDLIIY |
500:
FEPPSEDLQH | EEKQSKLRSL | RNRQSLFQEE | GMLSMVLNCI | DRLNVYTTAA |
550:
HFAEFAGEEA | AESWKEIVNL | LYELLASLIR | GNRSNCALFS | TNLDWLVSKL |
600:
DRLEASSGIL | EVLYCVLIES | PEVLNIIQEN | HIKSIISLLD | KHGRNHKVLD |
650:
VLCSLCVCNG | VAVRSNQDLI | TENLLPGREL | LLQTNLINYV | TSIRPNIFVG |
700:
RAEGTTQYSK | WYFEVMVDEV | TPFLTAQATH | LRVGWALTEG | YTPYPGAGEG |
750:
WGGNGVGDDL | YSYGFDGLHL | WTGHVARPVT | SPGQHLLAPE | DVISCCLDLS |
800:
VPSISFRING | CPVQGVFESF | NLDGLFFPVV | SFSAGVKVRF | LLGGRHGEFK |
850:
FLPPPGYAPC | HEAVLPRERL | HLEPIKEYRR | EGPRGPHLVG | PSRCLSHTDF |
900:
VPCPVDTVQI | VLPPHLERIR | EKLAENIHEL | WALTRIEQGW | TYGPVRDDNK |
950:
RLHPCLVDFH | SLPEPERNYN | LQMSGETLKT | LLALGCHVGM | ADEKAEDNLK |
1000:
KTKLPKTYMM | SNGYKPAPLD | LSHVRLTPAQ | TTLVDRLAEN | GHNVWARDRV |
1050:
GQGWSYSAVQ | DIPARRNPRL | VPYRLLDEAT | KRSNRDSLCQ | AVRTLLGYGY |
1100:
NIEPPDQEPS | QVENQSRCDR | VRIFRAEKSY | TVQSGRWYFE | FEAVTTGEMR |
1150:
VGWARPELRP | DVELGADELA | YVFNGHRGQR | WHLGSEPFGR | PWQPGDVVGC |
1200:
MIDLTENTII | FTLNGEVLMS | DSGSETAFRE | IEIGDGFLPV | CSLGPGQVGH |
1250:
LNLGQDVSSL | RFFAICGLQE | GFEPFAINMQ | RPVTTWFSKG | LPQFEPVPLE |
1300:
HPHYEVSRVD | GTVDTPPCLR | LTHRTWGSQN | SLVEMLFLRL | SLPVQFHQHF |
1350:
RCTAGATPLA | PPGLQPPAED | EARAAEPDPD | YENLRRSAGG | WSEAENGKEG |
1400:
TAKEGAPGGT | PQAGGEAQPA | RAENEKDATT | EKNKKRGFLF | KAKKVAMMTQ |
1450:
PPATPTLPRL | PHDVVPADNR | DDPEIILNTT | TYYYSVRVFA | GQEPSCVWAG |
1500:
WVTPDYHQHD | MSFDLSKVRV | VTVTMGDEQG | NVHSSLKCSN | CYMVWGGDFV |
1550:
SPGQQGRISH | TDLVIGCLVD | LATGLMTFTA | NGKESNTFFQ | VEPNTKLFPA |
1600:
VFVLPTHQNV | IQFELGKQKN | IMPLSAAMFQ | SERKNPAPQC | PPRLEMQMLM |
1650:
PVSWSRMPNH | FLQVETRRAG | ERLGWAVQCQ | EPLTMMALHI | PEENRCMDIL |
1700:
ELSERLDLQR | FHSHTLRLYR | AVCALGNNRV | AHALCSHVDQ | AQLLHALEDA |
1750:
HLPGPLRAGY | YDLLISIHLE | SACRSRRSML | SEYIVPLTPE | TRAITLFPPG |
1800:
RSTENGHPRH | GLPGVGVTTS | LRPPHHFSPP | CFVAALPAAG | AAEAPARLSP |
1850:
AIPLEALRDK | ALRMLGEAVR | DGGQHARDPV | GGSVEFQFVP | VLKLVSTLLV |
1900:
MGIFGDEDVK | QILKMIEPEV | FTEEEEEEDE | EEEGEEEDEE | EKEEDEEETA |
1950:
QEKEDEEKEE | EEAAEGEKEE | GLEEGLLQMK | LPESVKLQMC | HLLEYFCDQE |
2000:
LQHRVESLAA | FAERYVDKLQ | ANQRSRYGLL | IKAFSMTAAE | TARRTREFRS |
2050:
PPQEQINMLL | QFKDGTDEED | CPLPEEIRQD | LLDFHQDLLA | HCGIQLDGEE |
2100:
EEPEEETTLG | SRLMSLLEKV | RLVKKKEEKP | EEERSAEESK | PRSLQELVSH |
2150:
MVVRWAQEDF | VQSPELVRAM | FSLLHRQYDG | LGELLRALPR | AYTISPSSVE |
2200:
DTMSLLECLG | QIRSLLIVQM | GPQEENLMIQ | SIGNIMNNKV | FYQHPNLMRA |
2250:
LGMHETVMEV | MVNVLGGGES | KEIRFPKMVT | SCCRFLCYFC | RISRQNQRSM |
2300:
FDHLSYLLEN | SGIGLGMQGS | TPLDVAAASV | IDNNELALAL | QEQDLEKVVS |
2350:
YLAGCGLQSC | PMLVAKGYPD | IGWNPCGGER | YLDFLRFAVF | VNGESVEENA |
2400:
NVVVRLLIRK | PECFGPALRG | EGGSGLLAAI | EEAIRISEDP | ARDGPGIRRD |
2450:
RRREHFGEEP | PEENRVHLGH | AIMSFYAALI | DLLGRCAPEM | HLIQAGKGEA |
2500:
LRIRAILRSL | VPLEDLVGII | SLPLQIPTLG | KDGALVQPKM | SASFVPDHKA |
2550:
SMVLFLDRVY | GIENQDFLLH | VLDVGFLPDM | RAAASLDTAT | FSTTEMALAL |
2600:
NRYLCLAVLP | LITKCAPLFA | GTEHRAIMVD | SMLHTVYRLS | RGRSLTKAQR |
2650:
DVIEDCLMSL | CRYIRPSMLQ | HLLRRLVFDV | PILNEFAKMP | LKLLTNHYER |
2700:
CWKYYCLPTG | WANFGVTSEE | ELHLTRKLFW | GIFDSLAHKK | YDPELYRMAM |
2750:
PCLCAIAGAL | PPDYVDASYS | SKAEKKATVD | AEGNFDPRPV | ETLNVIIPEK |
2800:
LDSFINKFAE | YTHEKWAFDK | IQNNWSYGEN | IDEELKTHPM | LRPYKTFSEK |
2850:
DKEIYRWPIK | ESLKAMIAWE | WTIEKAREGE | EEKTEKKKTR | KISQSAQTYD |
2900:
PREGYNPQPP | DLSAVTLSRE | LQAMAEQLAE | NYHNTWGRKK | KQELEAKGGG |
2950:
THPLLVPYDT | LTAKEKARDR | EKAQELLKFL | QMNGYAVTRG | LKDMELDSSS |
3000:
IEKRFAFGFL | QQLLRWMDIS | QEFIAHLEAV | VSSGRVEKSP | HEQEIKFFAK |
3050:
ILLPLINQYF | TNHCLYFLST | PAKVLGSGGH | ASNKEKEMIT | SLFCKLAALV |
3100:
RHRVSLFGTD | APAVVNCLHI | LARSLDARTV | MKSGPEIVKA | GLRSFFESAS |
3150:
EDIEKMVENL | RLGKVSQART | QVKGVGQNLT | YTTVALLPVL | TTLFQHIAQH |
3200:
QFGDDVILDD | VQVSCYRTLC | SIYSLGTTKN | TYVEKLRPAL | GECLARLAAA |
3250:
MPVAFLEPQL | NEYNACSVYT | TKSPRERAIL | GLPNSVEEMC | PDIPVLERLM |
3300:
ADIGGLAESG | ARYTEMPHVI | EITLPMLCSY | LPRWWERGPE | APPSALPAGA |
3350:
PPPCTAVTSD | HLNSLLGNIL | RIIVNNLGID | EASWMKRLAV | FAQPIVSRAR |
3400:
PELLQSHFIP | TIGRLRKRAG | KVVSEEEQLR | LEAKAEAQEG | ELLVRDEFSV |
3450:
LCRDLYALYP | LLIRYVDNNR | AQWLTEPNPS | AEELFRMVGE | IFIYWSKSHN |
3500:
FKREEQNFVV | QNEINNMSFL | TADNKSKMAK | AGDIQSGGSD | QERTKKKRRG |
3550:
DRYSVQTSLI | VATLKKMLPI | GLNMCAPTDQ | DLITLAKTRY | ALKDTDEEVR |
3600:
EFLHNNLHLQ | GKVEGSPSLR | WQMALYRGVP | GREEDADDPE | KIVRRVQEVS |
3650:
AVLYYLDQTE | HPYKSKKAVW | HKLLSKQRRR | AVVACFRMTP | LYNLPTHRAC |
3700:
NMFLESYKAA | WILTEDHSFE | DRMIDDLSKA | GEQEEEEEEV | EEKKPDPLHQ |
3750:
LVLHFSRTAL | TEKSKLDEDY | LYMAYADIMA | KSCHLEEGGE | NGEAEEEVEV |
3800:
SFEEKQMEKQ | RLLYQQARLH | TRGAAEMVLQ | MISACKGETG | AMVSSTLKLG |
3850:
ISILNGGNAE | VQQKMLDYLK | DKKEVGFFQS | IQALMQTCSV | LDLNAFERQN |
3900:
KAEGLGMVNE | DGTVINRQNG | EKVMADDEFT | QDLFRFLQLL | CEGHNNDFQN |
3950:
YLRTQTGNTT | TINIIICTVD | YLLRLQESIS | DFYWYYSGKD | VIEEQGKRNF |
4000:
SKAMSVAKQV | FNSLTEYIQG | PCTGNQQSLA | HSRLWDAVVG | FLHVFAHMMM |
4050:
KLAQDSSQIE | LLKELLDLQK | DMVVMLLSLL | EGNVVNGMIA | RQMVDMLVES |
4100:
SSNVEMILKF | FDMFLKLKDI | VGSEAFQDYV | TDPRGLISKK | DFQKAMDSQK |
4150:
QFSGPEIQFL | LSCSEADENE | MINCEEFANR | FQEPARDIGF | NVAVLLTNLS |
4200:
EHVPHDPRLH | NFLELAESIL | EYFRPYLGRI | EIMGASRRIE | RIYFEISETN |
4250:
RAQWEMPQVK | ESKRQFIFDV | VNEGGEAEKM | ELFVSFCEDT | IFEMQIAAQI |
4300:
SEPEGEPETD | EDEGAGAAEA | GAEGAEEGAA | GLEGTAATAA | AGATARVVAA |
4350:
AGRALRGLSY | RSLRRRVRRL | RRLTAREAAT | AVAALLWAAV | TRAGAAGAGA |
4400:
AAGALGLLWG | SLFGGGLVEG | AKKVTVTELL | AGMPDPTSDE | VHGEQPAGPG |
4450:
GDADGEGASE | GAGDAAEGAG | DEEEAVHEAG | PGGADGAVAV | TDGGPFRPEG |
4500:
AGGLGDMGDT | TPAEPPTPEG | SPILKRKLGV | DGVEEELPPE | PEPEPEPELE |
4550:
PEKADAENGE | KEEVPEPTPE | PPKKQAPPSP | PPKKEEAGGE | FWGELEVQRV |
4600:
KFLNYLSRNF | YTLRFLALFL | AFAINFILLF | YKVSDSPPGE | DDMEGSAAGD |
4650:
VSGAGSGGSS | GWGLGAGEEA | EGDEDENMVY | YFLEESTGYM | EPALRCLSLL |
4700:
HTLVAFLCII | GYNCLKVPLV | IFKREKELAR | KLEFDGLYIT | EQPEDDDVKG |
4750:
QWDRLVLNTP | SFPSNYWDKF | VKRKVLDKHG | DIYGRERIAE | LLGMDLATLE |
4800:
ITAHNERKPN | PPPGLLTWLM | SIDVKYQIWK | FGVIFTDNSF | LYLGWYMVMS |
4850:
LLGHYNNFFF | AAHLLDIAMG | VKTLRTILSS | VTHNGKQLVM | TVGLLAVVVY |
4900:
LYTVVAFNFF | RKFYNKSEDE | DEPDMKCDDM | MTCYLFHMYV | GVRAGGGIGD |
4950:
EIEDPAGDEY | ELYRVVFDIT | FFFFVIVILL | AIIQGLIIDA | FGELRDQQEQ |
5000:
VKEDMETKCF | ICGIGSDYFD | TTPHGFETHT | LEEHNLANYM | FFLMYLINKD |
5038:
ETEHTGQESY | VWKMYQERCW | DFFPAGDCFR | KQYEDQLS
Vaild Sequence:
Related Databases
Uniprot:
ELISA Kit
CLIA Kit
Polyclonal Antibody
Monoclonal Antibody
Protein
FOR
Human
Rabbit
Pig
Mouse
Rat
ELISA Kit for Human RYR-1
ELISA Kit for Human RYR-1
ELISA Kit for Human RYR-1
ELISA Kit for Human RYR-1
ELISA Kit for Human RYR-1
Polyclonal Antibody for Human RYR-1
Polyclonal Antibody for Human RYR-1
Polyclonal Antibody for Human RYR-1
Polyclonal Antibody for Human RYR-1
Polyclonal Antibody for Human RYR-1
Monoclonal Antibody for Human RYR-1
Monoclonal Antibody for Human RYR-1
Monoclonal Antibody for Human RYR-1
Monoclonal Antibody for Human RYR-1
Monoclonal Antibody for Human RYR-1
R&D Technical Data
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Precision
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Recovery
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Linearity
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References
1.
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2);PARTIAL PROTEIN SEQUENCE
tissue :
Skeletal muscle .
2.
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : SEQUENCE REVISION TO 2324; 2840 AND 3380;INVOLVEMENT IN MHS1;VARIANT MHS1 ARG-248;VARIANTS CYS-471; LEU-1787; CYS-2060 AND VAL-2550
tissue :
Muscle .
3.
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : SEQUENCE REVISION TO 1365-1368;VARIANT CCD/MHS1 HIS-2435;ALTERNATIVE SPLICING
tissue :
Muscle .
4.
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : NUCLEOTIDE SEQUENCE [GENOMIC DNA];ALTERNATIVE SPLICING;VARIANTS ALA-1832 AND VAL-2550
5.
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Retterer J.
,
Rodriguez A.
,
Rogers S.
,
Salamov A.
,
Salazar A.
,
She X.
,
Smith D.
,
Slezak T.
,
Solovyev V.
,
Thayer N.
,
Tice H.
,
Tsai M.
,
Ustaszewska A.
,
Vo N.
,
Wagner M.
,
Wheeler J.
,
Wu K.
,
Xie G.
,
Yang J.
,
Dubchak I.
,
Furey T.S.
,
DeJong P.
,
Dickson M.
,
Gordon D.
,
Eichler E.E.
,
Pennacchio L.A.
,
Richardson P.
,
Stubbs L.
,
Rokhsar D.S.
,
Myers R.M.
,
Rubin E.M.
,
Lucas S.M.
more...
Nature428:529-535(2004)
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PubMed ]
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Europe PMC ]
[
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Cited for : NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]
6.
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Cited for : NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 598-722
tissue :
Skeletal muscle .
7.
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Cited for : NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 603-641;VARIANT MHS1 CYS-614
8.
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Cited for : NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 603-627;VARIANT MHS1 CYS-614
9.
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Cited for : NUCLEOTIDE SEQUENCE [MRNA] OF 4696-4974
tissue :
Myometrium .
10.
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Cited for : TISSUE SPECIFICITY
11.
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Cited for : S-NITROSYLATION AT CYS-3635
12.
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Cited for : INTERACTION WITH CALM AND S100A1
13.
"Remodeling of ryanodine receptor complex causes 'leaky' channels: a molecular mechanism for decreased exercise capacity."
Bellinger A.M.
,
Reiken S.
,
Dura M.
,
Murphy P.W.
,
Deng S.X.
,
Landry D.W.
,
Nieman D.
,
Lehnart S.E.
,
Samaru M.
,
LaCampagne A.
,
Marks A.R.
Proc. Natl. Acad. Sci. U.S.A.105:2198-2202(2008)
[
PubMed ]
[
Europe PMC ]
[
Abstract ]
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : FUNCTION;PHOSPHORYLATION AT SER-2843;S-NITROSYLATION;IDENTIFICATION IN A COMPLEX WITH PDE4D; PKA; FKBP1A AND PROTEIN PHOSPHATASE 1
14.
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT TYR-4864 AND SER-4867;IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]
tissue :
Liver .
15.
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : REVIEW
16.
"Samaritan myopathy, an ultimately benign congenital myopathy, is caused by a RYR1 mutation."
Bohm J.
,
Leshinsky-Silver E.
,
Vassilopoulos S.
,
Le Gras S.
,
Lerman-Sagie T.
,
Ginzberg M.
,
Jost B.
,
Lev D.
,
Laporte J.
Acta Neuropathol.124:575-581(2012)
[
PubMed ]
[
Europe PMC ]
[
Abstract ]
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : INVOLVEMENT IN SAMARITAN MYOPATHY;VARIANT CYS-1088
17.
"Mutations in the ryanodine receptor gene in central core disease and malignant hyperthermia."
Quane K.A.
,
Healy J.M.S.
,
Keating K.E.
,
Manning B.M.
,
Couch F.J.
,
Palmucci L.M.
,
Doriguzzi C.
,
Fagerlund T.H.
,
Berg K.
,
Ording H.
,
Bendixen D.
,
Mortier W.
,
Linz U.
,
Muller C.R.
,
McCarthy T.V.
Nat. Genet.5:51-55(1993)
[
PubMed ]
[
Europe PMC ]
[
Abstract ]
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : VARIANTS CCD/MHS1 CYS-163 AND MET-403
18.
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : VARIANT CCD/MHS1 SER-522
19.
"Detection of a novel common mutation in the ryanodine receptor gene in malignant hyperthermia: implications for diagnosis and heterogeneity studies."
Quane K.A.
,
Keating K.E.
,
Manning B.M.
,
Healy J.M.S.
,
Monsieurs K.
,
Heffron J.J.A.
,
Lehane M.
,
Heytens L.
,
Krivosic-Horber R.
,
Adnet P.
,
Ellis F.R.
,
Monnier N.
,
Lunardi J.
,
McCarthy T.V.
Hum. Mol. Genet.3:471-476(1994)
[
PubMed ]
[
Europe PMC ]
[
Abstract ]
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : VARIANT MHS1 ARG-341
20.
"Detection of a novel RYR1 mutation in four malignant hyperthermia pedigrees."
Keating K.E.
,
Quane K.A.
,
Manning B.M.
,
Lehane M.
,
Hartung E.
,
Censier K.
,
Urwyler A.
,
Klausnitzer M.
,
Muller C.R.
,
Heffron J.J.A.
,
McCarthy T.V.
Hum. Mol. Genet.3:1855-1858(1994)
[
PubMed ]
[
Europe PMC ]
[
Abstract ]
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Cited for : VARIANT MHS1 ARG-2434
21.
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : VARIANT MHS1 ARG-2434
22.
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Cited for : VARIANT MHS1 ARG-35
23.
"Detection of a novel mutation at amino acid position 614 in the ryanodine receptor in malignant hyperthermia."
Quane K.A.
,
Ording H.
,
Keating K.E.
,
Manning B.M.
,
Heine R.
,
Bendixen D.
,
Berg K.
,
Krivosic-Horber R.
,
Lehmann-Horn F.
,
Fagerlund T.H.
,
McCarthy T.V.
Br. J. Anaesth.79:332-337(1997)
[
PubMed ]
[
Europe PMC ]
[
Abstract ]
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : VARIANT MHS1 LEU-614
24.
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : VARIANT MHS1 TRP-552
25.
"Identification of novel mutations in the ryanodine-receptor gene (RYR1) in malignant hyperthermia: genotype-phenotype correlation."
Manning B.M.
,
Quane K.A.
,
Ording H.
,
Urwyler A.
,
Tegazzin V.
,
Lehane M.
,
O'Halloran J.
,
Hartung E.
,
Giblin L.M.
,
Lynch P.J.
,
Vaughan P.
,
Censier K.
,
Bendixen D.
,
Comi G.P.
,
Heytens L.
,
Monsieurs K.
,
Fagerlund T.H.
,
Wolz W.
,
Heffron J.J.A.
,
Mueller C.R.
,
McCarthy T.V.
more...
Am. J. Hum. Genet.62:599-609(1998)
[
PubMed ]
[
Europe PMC ]
[
Abstract ]
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : VARIANTS MHS1 CYS-2163; MET-2168 AND MET-2206;VARIANT CCD/MHS1 HIS-2163
26.
"Novel mutations at a CpG dinucleotide in the ryanodine receptor in malignant hyperthermia."
Manning B.M.
,
Quane K.A.
,
Lynch P.J.
,
Urwyler A.
,
Tegazzin V.
,
Krivosic-Horber R.
,
Censier K.
,
Comi G.P.
,
Adnet P.
,
Wolz W.
,
Lunardi J.
,
Muller C.R.
,
McCarthy T.V.
Hum. Mutat.11:45-50(1998)
[
PubMed ]
[
Europe PMC ]
[
Abstract ]
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Cited for : VARIANTS MHS1 CYS-2458 AND HIS-2458
27.
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : VARIANTS MHS1
28.
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : VARIANT MHS1 LEU-2435;VARIANT CCD/MHS1 HIS-2454
29.
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Cited for : VARIANT CCD THR-4898;CHARACTERIZATION OF VARIANT CCD THR-4898
30.
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : VARIANTS MHS1 TRP-2452 AND HIS-2454
31.
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : VARIANT MHS1 ILE-4826
32.
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : VARIANT MHS1 CYS-2454
33.
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : VARIANT CCD ALA-4637
34.
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : VARIANT MHS1 GLU-2347 DEL
35.
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : VARIANTS MHS1 CYS-163; ARG-248; CYS-614; MET-2168; MET-2206; ILE-2214; THR-2367; ASN-2431; ARG-2434 AND HIS-2454
36.
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : VARIANTS CCD MET-2168; 4214-ARG--4216-PHE DEL; 4647-LEU-SER-4648 DEL; PRO-4793; CYS-4796; CYS-4825; PHE-4860 DEL; HIS-4861; TRP-4893; THR-4898; GLU-4899 AND GLY-4914
37.
"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."
Tilgen N.
,
Zorzato F.
,
Halliger-Keller B.
,
Muntoni F.
,
Sewry C.
,
Palmucci L.M.
,
Schneider C.
,
Hauser E.
,
Lehmann-Horn F.
,
Mueller C.R.
,
Treves S.
Hum. Mol. Genet.10:2879-2887(2001)
[
PubMed ]
[
Europe PMC ]
[
Abstract ]
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : VARIANTS CCD HIS-4861; ARG-4891; THR-4898; ARG-4899 AND VAL-4906;CHARACTERIZATION OF VARIANTS CCD MET-2168; HIS-4861; TRP-4893; THR-4898 AND ARG-4899
38.
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Cited for : VARIANT MHS1 GLU-2129
39.
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : VARIANT MHS1 THR-2350;CHARACTERIZATION OF VARIANT MHS1 THR-2350
40.
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : VARIANTS MHS1 CYS-163; ASN-166; ARG-341; HIS-401; CYS-614; GLU-2129; MET-2168; MET-2206; THR-2428; ARG-2434; HIS-2435; TRP-2452 AND HIS-2454
41.
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Cited for : VARIANTS MHS1 CYS-163; ARG-341; CYS-614; CYS-2454; MET-3916 AND LEU-4973
42.
"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."
Ferreiro A.
,
Monnier N.
,
Romero N.B.
,
Leroy J.-P.
,
Boennemann C.
,
Haenggeli C.-A.
,
Straub V.
,
Voss W.D.
,
Nivoche Y.
,
Jungbluth H.
,
Lemainque A.
,
Voit T.
,
Lunardi J.
,
Fardeau M.
,
Guicheney P.
Ann. Neurol.51:750-759(2002)
[
PubMed ]
[
Europe PMC ]
[
Abstract ]
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : VARIANT CCD SER-3527
43.
"Malignant hyperthermia associated with exercise-induced rhabdomyolysis or congenital abnormalities and a novel RYR1 mutation in New Zealand and Australian pedigrees."
Davis M.
,
Brown R.
,
Dickson A.
,
Horton H.
,
James D.
,
Laing N.
,
Marston R.
,
Norgate M.
,
Perlman D.
,
Pollock N.
,
Stowell K.
Br. J. Anaesth.88:508-515(2002)
[
PubMed ]
[
Europe PMC ]
[
Abstract ]
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : VARIANT MHS1 CYS-401
44.
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : VARIANTS MHS1 CYS-163; CYS-401; HIS-2163; MET-2206; ILE-2280; ARG-2434; LEU-2435; CYS-2458; SER-4136; LEU-4234; TRP-4737; VAL-4942 AND LEU-4973
45.
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Cited for : VARIANT MHS1 CYS-2355
46.
"Novel mutations in C-terminal channel region of the ryanodine receptor in malignant hyperthermia patients."
Oyamada H.
,
Oguchi K.
,
Saitoh N.
,
Yamazawa T.
,
Hirose K.
,
Kawana Y.
,
Wakatsuki K.
,
Oguchi K.
,
Tagami M.
,
Hanaoka K.
,
Endo M.
,
Iino M.
Jpn. J. Pharmacol.88:159-166(2002)
[
PubMed ]
[
Europe PMC ]
[
Abstract ]
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : VARIANT MHS1 VAL-4838;VARIANTS ALA-1832; GLU-3756 AND SER-4668
47.
"Autosomal recessive inheritance of RYR1 mutations in a congenital myopathy with cores."
Jungbluth H.
,
Muller C.R.
,
Halliger-Keller B.
,
Brockington M.
,
Brown S.C.
,
Feng L.
,
Chattopadhyay A.
,
Mercuri E.
,
Manzur A.Y.
,
Ferreiro A.
,
Laing N.G.
,
Davis M.R.
,
Roper H.P.
,
Dubowitz V.
,
Bydder G.
,
Sewry C.A.
,
Muntoni F.
Neurology59:284-287(2002)
[
PubMed ]
[
Europe PMC ]
[
Abstract ]
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : VARIANT CCD ILE-4849
48.
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Cited for : VARIANT MHS1 TRP-328;CHARACTERIZATION OF VARIANT MHS1 TRP-328
49.
"Central core disease: clinical, pathological, and genetic features."
Quinlivan R.M.
,
Muller C.R.
,
Davis M.
,
Laing N.G.
,
Evans G.A.
,
Dwyer J.
,
Dove J.
,
Roberts A.P.
,
Sewry C.A.
Arch. Dis. Child.88:1051-1055(2003)
[
PubMed ]
[
Europe PMC ]
[
Abstract ]
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : VARIANTS CCD HIS-4861; CYS-4864; TRP-4893 AND THR-4940
50.
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : VARIANTS CCD GLU-215; CYS-614; PRO-4650; GLN-4724 AND GLU-4899
51.
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Cited for : VARIANTS MHS1 CYS-44; CYS-533; LEU-2117; PRO-2163; MET-2168; LEU-2435 AND HIS-2454;VARIANT LYS-2101
52.
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Cited for : VARIANT CCD 4863-ARG--ASP-4869 DELINS TYR
53.
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Cited for : INVOLVEMENT IN MMDO
54.
"Principal mutation hotspot for central core disease and related myopathies in the C-terminal transmembrane region of the RYR1 gene."
Davis M.R.
,
Haan E.
,
Jungbluth H.
,
Sewry C.
,
North K.
,
Muntoni F.
,
Kuntzer T.
,
Lamont P.
,
Bankier A.
,
Tomlinson P.
,
Sanchez A.
,
Walsh P.
,
Nagarajan L.
,
Oley C.
,
Colley A.
,
Gedeon A.
,
Quinlivan R.
,
Dixon J.
,
James D.
,
Mueller C.R.
,
Laing N.G.
more...
Neuromuscul. Disord.13:151-157(2003)
[
PubMed ]
[
Europe PMC ]
[
Abstract ]
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Cited for : VARIANT CORE/ROD DISEASE ILE-4637;VARIANTS CCD ASP-4638; PRO-4651; CYS-4861; HIS-4861; GLN-4893; THR-4898; GLY-4914; THR-4914; 4927-VAL-ILE-4928 DEL AND THR-4940
55.
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : VARIANTS MHS1 CYS-163; ARG-248; CYS-614; CYS-2163; MET-2168; MET-2206; ILE-2214; THR-2350; THR-2367; ASN-2431; ARG-2434; VAL-2437; HIS-2454 AND PRO-4824
56.
"Multiminicore disease in a family susceptible to malignant hyperthermia: histology, in vitro contracture tests, and genetic characterization."
Guis S.
,
Figarella-Branger D.
,
Monnier N.
,
Bendahan D.
,
Kozak-Ribbens G.
,
Mattei J.-P.
,
Lunardi J.
,
Cozzone P.J.
,
Pellissier J.-F.
Arch. Neurol.61:106-113(2004)
[
PubMed ]
[
Europe PMC ]
[
Abstract ]
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Cited for : VARIANTS MHS1 TRP-2676 AND SER-2787
57.
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Cited for : VARIANTS CCD GLY-160; ASP-4638; PHE-4814; HIS-4861 AND MET-4938;VARIANTS MHS1 CYS-614; MET-2346; GLY-2348; TRP-2452; HIS-2458; PRO-4824 AND GLU-4939
58.
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Cited for : VARIANT MHS1 SER-2342
59.
"Correlations between genotype and pharmacological, histological, functional, and clinical phenotypes in malignant hyperthermia susceptibility."
Monnier N.
,
Kozak-Ribbens G.
,
Krivosic-Horber R.
,
Nivoche Y.
,
Qi D.
,
Kraev N.
,
Loke J.
,
Sharma P.
,
Tegazzin V.
,
Figarella-Branger D.
,
Romero N.
,
Mezin P.
,
Bendahan D.
,
Payen J.-F.
,
Depret T.
,
Maclennan D.H.
,
Lunardi J.
Hum. Mutat.26:413-425(2005)
[
PubMed ]
[
Europe PMC ]
[
Abstract ]
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : VARIANTS MHS1 ARG-35; CYS-163; LEU-163; ARG-165; ASN-166; CYS-177; CYS-178; VAL-227; ARG-248; TRP-328; ARG-341; SER-401; HIS-401; MET-403; SER-522; TRP-552; CYS-614; LEU-614; CYS-2163; HIS-2163; MET-2168; MET-2206; ARG-2206; ASP-2344; MET-2346; THR-2350; THR-2428; ARG-2434; HIS-2435; CYS-2454; HIS-2454; CYS-2458; TRP-2676; SER-2787; MET-3916; SER-4684; GLN-4737; TRP-4737; ILE-4826; VAL-4838; ILE-4849; ARG-4876; GLU-4939 AND LEU-4973;CHARACTERIZATION OF VARIANTS MHS1 LEU-163; MET-2206; THR-2428; CYS-2454 AND HIS-2454
60.
"Minicore myopathy with ophthalmoplegia caused by mutations in the ryanodine receptor type 1 gene."
Jungbluth H.
,
Zhou H.
,
Hartley L.
,
Halliger-Keller B.
,
Messina S.
,
Longman C.
,
Brockington M.
,
Robb S.A.
,
Straub V.
,
Voit T.
,
Swash M.
,
Ferreiro A.
,
Bydder G.
,
Sewry C.A.
,
Mueller C.
,
Muntoni F.
Neurology65:1930-1935(2005)
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PubMed ]
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Europe PMC ]
[
Abstract ]
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Cited for : VARIANTS MMDO TRP-109 AND LYS-2423;VARIANTS VAL-485 AND CYS-2060
61.
"Inheritance of a novel RYR1 mutation in a family with myotonic dystrophy type 1."
Gambelli S.
,
Malandrini A.
,
Berti G.
,
Gaudiano C.
,
Zicari E.
,
Brunori P.
,
Perticoni G.
,
Orrico A.
,
Galli L.
,
Sorrentino V.
,
Lunardi J.
,
Federico A.
,
Dotti M.T.
Clin. Genet.71:93-94(2007)
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PubMed ]
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Europe PMC ]
[
Abstract ]
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Cited for : VARIANT CCD VAL-4846
62.
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Cited for : VARIANTS CCD GLN-4558; VAL-4846; ILE-4849; HIS-4861; CYS-4861; VAL-4897 AND THR-4914
63.
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Cited for : VARIANT CCD MET-4882
64.
"Null mutations causing depletion of the type 1 ryanodine receptor (RYR1) are commonly associated with recessive structural congenital myopathies with cores."
Monnier N.
,
Marty I.
,
Faure J.
,
Castiglioni C.
,
Desnuelle C.
,
Sacconi S.
,
Estournet B.
,
Ferreiro A.
,
Romero N.
,
Laquerriere A.
,
Lazaro L.
,
Martin J.-J.
,
Morava E.
,
Rossi A.
,
Van der Kooi A.
,
de Visser M.
,
Verschuuren C.
,
Lunardi J.
Hum. Mutat.29:670-678(2008)
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PubMed ]
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Europe PMC ]
[
Abstract ]
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Cited for : VARIANTS CCD VAL-13; SER-1704; PRO-2421; LYS-2423; HIS-3539; GLN-3772; GLN-4558; MET-4842 AND ILE-4849
65.
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Cited for : VARIANTS MHS1 ARG-13; LYS-226; LEU-367; HIS-530; TYR-544; CYS-1043; GLY-1352; HIS-2336; LYS-2404; TRP-2676; GLY-2730; SER-2787; LYS-2880; PRO-3217; LYS-3290; TRP-3772; ARG-3806; LEU-4501; VAL-4838; ARG-4876 AND THR-4938;VARIANTS GLY-1342; LEU-1787; ALA-1832; CYS-2060; VAL-2321; VAL-2550; GLN-3583 AND GLU-3756
66.
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Cited for : VARIANTS MHS1 ASN-382 AND LYS-1058;VARIANT CCD GLY-2508;VARIANTS ARG-1393 AND HIS-1679
67.
"Recessive mutations in RYR1 are a common cause of congenital fiber type disproportion."
Clarke N.F.
,
Waddell L.B.
,
Cooper S.T.
,
Perry M.
,
Smith R.L.L.
,
Kornberg A.J.
,
Muntoni F.
,
Lillis S.
,
Straub V.
,
Bushby K.
,
Guglieri M.
,
King M.D.
,
Farrell M.A.
,
Marty I.
,
Lunardi J.
,
Monnier N.
,
North K.N.
Hum. Mutat.31:E1544-E1550(2010)
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PubMed ]
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Europe PMC ]
[
Abstract ]
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Cited for : VARIANTS CFTD THR-402; LEU-2035; LYS-3326 AND GLY-3402
68.
"Novel missense mutations and unexpected multiple changes of RYR1 gene in 75 malignant hyperthermia families."
Tammaro A.
,
Di Martino A.
,
Bracco A.
,
Cozzolino S.
,
Savoia G.
,
Andria B.
,
Cannavo A.
,
Spagnuolo M.
,
Piluso G.
,
Aurino S.
,
Nigro V.
Clin. Genet.79:438-447(2011)
[
PubMed ]
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Europe PMC ]
[
Abstract ]
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Cited for : VARIANTS MHS1 ASN-1056; HIS-1127; ARG-1467; VAL-1571; GLN-2013; GLY-2400; GLY-2593; GLN-3410; TYR-3501 AND CYS-3933;VARIANTS LYS-899; CYS-2060; CYS-2248; TYR-2976 AND GLN-3360
69.
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Cited for : VARIANTS CCD GLY-160; GLN-2204; HIS-3366; CYS-3933 AND ASP-4743;VARIANTS LEU-1787; CYS-2060 AND ALA-4493
70.
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Cited for : VARIANTS MHS1 HIS-1056; MET-2627 AND LEU-4234
71.
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Cited for : VARIANTS MHS1 ALA-40; CYS-163; ARG-248; ARG-341; PRO-487; ALA-518; CYS-614; HIS-1043; HIS-2163; MET-2206; HIS-2248; HIS-2351; MET-2354; LEU-2358; GLN-2383; ARG-2434; HIS-2454; ARG-3711; VAL-4178; ARG-4230; GLU-4837; HIS-4861 AND GLY-4906;VARIANTS CCD TRP-975; MET-2168 AND GLY-3238;VARIANTS MET-974; LEU-1109; ARG-1393; LEU-1787; CYS-2060 AND VAL-2321
72.
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Cited for : VARIANTS CCD HIS-4861; ALA-4897 AND THR-4898