LOCUS       AJ300340                 395 bp    DNA     linear   HUM 14-NOV-2006
DEFINITION  Homo sapiens partial RYR2 gene for ryanodine receptor 2, exon 1 and
            joined complete CDS.
ACCESSION   AJ300340
VERSION     AJ300340.1
KEYWORDS    ryanodine receptor 2; RYR2 gene.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 395)
  AUTHORS   Tiso N.
  JOURNAL   Submitted (16-NOV-2000) to the INSDC. Tiso N., Department of
            Biology, University of Padova, via U. Bassi 58/B, Padova, Italy
            I-35131.
REFERENCE   2
  AUTHORS   Tiso N., Stephan D.A., Nava A., Bagattin A., Devaney J.M.,
            Stanchi F., Larderet G., Brahmbhatt B., Brown K., Bauce B.,
            Muriago M., Basso C., Thiene G., Danieli G.A., Rampazzo A.
  TITLE     Identification of mutations in the cardiac ryanodine receptor gene
            in families affected with arrhythmogenic right ventricular
            cardiomyopathy type 2 (ARVD2)
  JOURNAL   Hum. Mol. Genet. 10(3), 189-194(2001).
   PUBMED   11159936
FEATURES             Location/Qualifiers
     source          1..395
                     /organism="Homo sapiens"
                     /chromosome="1"
                     /map="1q43"
                     /mol_type="genomic DNA"
                     /db_xref="taxon:9606"
     mRNA            join(1..168,AJ300341.1:53..172,AJ300342.1:30..134,
                     AJ300343.1:121..141,AJ300344.1:25..39,AJ300345.1:97..171,
                     AJ300346.1:74..152,AJ300347.1:85..197,AJ300348.1:52..151,
                     AJ300359.1:57..153,AJ300350.1:112..186,AJ300351.1:40..196,
                     AJ300352.1:108..272,AJ300353.1:49..170,AJ300354.1:95..278,
                     AJ300355.1:57..192,AJ300356.1:90..185,AJ300357.1:67..185,
                     AJ300358.1:37..170,AJ300359.1:30..271,AJ300360.1:76..268,
                     AJ300361.1:27..243,AJ300362.1:68..172,AJ300363.1:63..166,
                     AJ300364.1:72..155,AJ300365.1:100..259,AJ300366.1:50..197,
                     AJ300367.1:56..264,AJ300368.1:54..228,AJ300369.1:89..297,
                     AJ300370.1:89..441,AJ300371.1:96..210,AJ300372.1:31..191,
                     AJ300373.1:119..278,AJ300374.1:109..195,
                     AJ300375.1:53..279,AJ300376.1:162..966,AJ300377.1:3..203,
                     AJ300378.1:68..173,AJ300379.1:72..215,AJ300380.1:23..296,
                     AJ300381.1:44..158,AJ300382.1:40..172,AJ300383.1:48..151,
                     AJ300384.1:51..186,AJ300385.1:33..219,AJ300386.1:87..192,
                     AJ300387.1:86..206,AJ300388.1:38..207,AJ300389.1:78..298,
                     AJ300390.1:45..135,AJ300391.1:122..262,AJ300392.1:57..220,
                     AJ300393.1:38..116,AJ300394.1:81..170,AJ300395.1:87..224,
                     AJ300396.1:96..173,AJ300397.1:161..236,AJ300398.1:34..157,
                     AJ300399.1:27..142,AJ300400.1:45..109,AJ300402.1:53..174,
                     AJ300402.1:14..63,AJ300403.1:39..99,AJ300404.1:27..265,
                     AJ300405.1:40..121,AJ300406.1:3..133,AJ300407.1:65..385,
                     AJ300408.1:114..354,AJ300409.1:128..215,
                     AJ300410.1:79..171,AJ300411.1:33..203,AJ300412.1:62..121,
                     AJ300413.1:88..222,AJ300414.1:162..197,AJ300415.1:51..163,
                     AJ300416.1:16..112,AJ300417.1:80..183,AJ300418.1:50..101,
                     AJ300419.1:63..116,AJ300420.1:133..232,AJ300421.1:80..159,
                     AJ300422.1:88..164,AJ300423.1:148..221,AJ300424.1:81..161,
                     AJ300425.1:87..175,AJ300426.1:82..210,AJ300427.1:37..141,
                     AJ300428.1:54..135,AJ300429.1:26..1323,AJ300430.1:57..124,
                     AJ300431.1:65..212,AJ300432.1:54..140,AJ300433.1:16..234,
                     AJ300434.1:62..192,AJ300435.1:130..172,AJ300436.1:42..175,
                     AJ300437.1:108..168,AJ300438.1:38..184,AJ300439.1:95..229,
                     AJ300440.1:49..205,AJ300441.1:93..157,AJ300442.1:94..194,
                     AJ300443.1:43..94,AJ300444.1:108..249)
                     /gene="RYR2"
     exon            1..168
                     /gene="RYR2"
                     /product="ryanodine receptor 2"
                     /number=1
     5'UTR           1..120
                     /gene="RYR2"
     CDS             join(121..168,AJ300341.1:53..172,AJ300342.1:30..134,
                     AJ300343.1:121..141,AJ300344.1:25..39,AJ300345.1:97..171,
                     AJ300346.1:74..152,AJ300347.1:85..197,AJ300348.1:52..151,
                     AJ300349.1:57..153,AJ300350.1:112..186,AJ300351.1:40..196,
                     AJ300352.1:108..272,AJ300353.1:49..170,AJ300354.1:95..278,
                     AJ300355.1:57..192,AJ300356.1:90..185,AJ300357.1:67..185,
                     AJ300358.1:37..170,AJ300359.1:30..271,AJ300360.1:76..268,
                     AJ300361.1:27..243,AJ300362.1:68..172,AJ300363.1:63..166,
                     AJ300364.1:72..155,AJ300365.1:100..259,AJ300366.1:50..197,
                     AJ300367.1:56..264,AJ300368.1:54..228,AJ300369.1:89..297,
                     AJ300370.1:89..441,AJ300371.1:96..210,AJ300372.1:31..191,
                     AJ300373.1:119..278,AJ300374.1:109..195,
                     AJ300375.1:53..279,AJ300376.1:162..966,AJ300377.1:3..203,
                     AJ300378.1:68..173,AJ300379.1:72..215,AJ300380.1:23..296,
                     AJ300381.1:44..158,AJ300382.1:40..172,AJ300383.1:48..151,
                     AJ300384.1:51..186,AJ300385.1:33..219,AJ300386.1:87..192,
                     AJ300387.1:86..206,AJ300388.1:38..207,AJ300389.1:78..298,
                     AJ300390.1:45..135,AJ300391.1:122..262,AJ300392.1:57..220,
                     AJ300393.1:38..116,AJ300394.1:81..170,AJ300395.1:87..224,
                     AJ300396.1:96..173,AJ300397.1:161..236,AJ300398.1:34..157,
                     AJ300399.1:27..142,AJ300400.1:45..109,AJ300401.1:53..174,
                     AJ300402.1:14..63,AJ300403.1:39..99,AJ300404.1:27..265,
                     AJ300405.1:40..121,AJ300406.1:3..133,AJ300407.1:65..385,
                     AJ300408.1:114..354,AJ300409.1:128..215,
                     AJ300410.1:79..171,AJ300411.1:33..203,AJ300412.1:62..121,
                     AJ300413.1:88..222,AJ300414.1:162..197,AJ300415.1:51..163,
                     AJ300416.1:16..112,AJ300417.1:80..183,AJ300418.1:50..101,
                     AJ300419.1:63..116,AJ300420.1:133..232,AJ300421.1:80..159,
                     AJ300422.1:88..164,AJ300423.1:148..221,AJ300424.1:81..161,
                     AJ300425.1:87..175,AJ300426.1:82..210,AJ300427.1:37..141,
                     AJ300428.1:54..135,AJ300429.1:26..1323,AJ300430.1:57..124,
                     AJ300431.1:65..212,AJ300432.1:54..140,AJ300433.1:16..234,
                     AJ300434.1:62..192,AJ300435.1:130..172,AJ300436.1:42..175,
                     AJ300437.1:108..168,AJ300438.1:38..184,AJ300439.1:95..229,
                     AJ300440.1:49..205,AJ300441.1:93..157,AJ300442.1:94..194,
                     AJ300443.1:43..94,AJ300444.1:108..203)
                     /codon_start=1
                     /gene="RYR2"
                     /product="ryanodine receptor 2"
                     /db_xref="GOA:Q92736"
                     /db_xref="HGNC:HGNC:10484"
                     /db_xref="InterPro:IPR000699"
                     /db_xref="InterPro:IPR001870"
                     /db_xref="InterPro:IPR002048"
                     /db_xref="InterPro:IPR003032"
                     /db_xref="InterPro:IPR003877"
                     /db_xref="InterPro:IPR005821"
                     /db_xref="InterPro:IPR009460"
                     /db_xref="InterPro:IPR011992"
                     /db_xref="InterPro:IPR013320"
                     /db_xref="InterPro:IPR013333"
                     /db_xref="InterPro:IPR013662"
                     /db_xref="InterPro:IPR014821"
                     /db_xref="InterPro:IPR016093"
                     /db_xref="InterPro:IPR035761"
                     /db_xref="InterPro:IPR035762"
                     /db_xref="InterPro:IPR035764"
                     /db_xref="InterPro:IPR035910"
                     /db_xref="InterPro:IPR036300"
                     /db_xref="PDB:4JKQ"
                     /db_xref="UniProtKB/Swiss-Prot:Q92736"
                     /protein_id="CAC18855.1"
                     /translation="MADGGEGEDEIQFLRTDDEVVLQCTATIHKEQQKLCLAAEGFGN
                     RLCFLESTSNSKNVPPDLSICTFVLEQSLSVRALQEMLANTVEKSEGQVDVEKWKFMM
                     KTAQGGGHRTLLYGHAILLRHSYSGMYLCCLSTSRSSTDKLAFDVGLQEDTTGEACWW
                     TIHPASKQRSEGEKVRVGDDLILVSVSSERYLHLSYGNGSLHVDAAFQQTLWSVAPIS
                     SGSEAAQGYLIGGDVLRLLHGHMDECLTVPSGEHGEEQRRTVHYEGGAVSVHARSLWR
                     LETLRVAWSGSHIRWGQPFRLRHVTTGKYLSLMEDKNLLLMDKEKADVKSTAFTFRSS
                     KEKLDVGVRKEVDGMGTSEIKYGDSVCYIQHVDTGLWLTYQSVDVKSVRMGSIQRKAI
                     MHHEGHMDDGISLSRSQHEESRTARVIRSTVFLFNRFIRGLDALSKKAKASTVDLPIE
                     SVSLSLQDLIGYFHPPDEHLEHEDKQNRLRALKNRQNLFQEEGMINLVLECIDRLHVY
                     SSAAHFADVAGREAGESWKSILNSLYELLAALIRGNRKNCAQFSGSLDWLISRLERLE
                     ASSGILEVLHCVLVESPEALNIIKEGHIKSIISLLDKHGRNHKVLDVLCSLCVCHGVA
                     VRSNQHLICDNLLPGRDLLLQTRLVNHVSSMRPNIFLGVSEGSAQYKKWYYELMVDHT
                     EPFVTAEATHLRVGWASTEGYSPYPGGGEEWGGNGVGDDLFSYGFDGLHLWSGCIART
                     VSSPNQHLLRTDDVISCCLDLSAPSISFRINGQPVQGMFENFNIDGLFFPVVSFSAGI
                     KVRFLLGGRHGEFKFLPPPGYAPCYEAVLPKEKLKVEHSREYKQERTYTRDLLGPTVS
                     LTQAAFTPIPVDTSQIVLPPHLERIREKLAENIHELWVMNKIELGWQYGPVRDDNKRQ
                     HPCLVEFSKLPEQERNYNLQMSLETLKTLLALGCHVGISDEHAEDKVKKMKLPKNYQL
                     TSGYKPAPMDLSFIKLTPSQEAMVDKLAENAHNVWARDRIRQGWTYGIQQDVKNRRNP
                     RLVPYTPLDDRTKKSNKDSLREAVRTLLGYGYNLEAPDQDHAARAEVCSGTGERFRIF
                     RAEKTYAVKAGRWYFEFETVTAGDMRVGWSRPGCQPDQELGSDERAFAFDGFKAQRWH
                     QGNEHYGRSWQAGDVVGCMVDMNEHTMMFTLNGEILLDDSGSELAFKDFDVGDGFIPV
                     CSLGVAQVGRMNFGKDVSTLKYFTICGLQEGYEPFAVNTNRDITMWLSKRLPQFLQVP
                     SNHEHIEVTRIDGTIDSSPCLKVTQKSFGSQNSNTDIMFYRLSMPIECAEVFSKTVAG
                     GLPGAGLFGPKNDLEDYDADSDFEVLMKTAHGHLVPDRVDKDKEATKPEFNNHKDYAQ
                     EKPSRLKQRFLLRRTKPDYSTSHSARLTEDVLADDRDDYDFLMQTSTYYYSVRIFPGQ
                     EPANVWVGWITSDFHQYDTGFDLDRVRTVTVTLGDEKGKVHESIKRSNCYMVCAGESM
                     SPGQGRNNNGLEIGCVVDAASGLLTFIANGKELSTYYQVEPSTKLFPAVFAQATSPNV
                     FQFELGRIKNVMPLSAGLFKSEHKNPVPQCPPRLHVQFLSHVLWSRMPNQFLKVDVSR
                     ISERQGWLVQCLDPLQFMSLHIPEENRSVDILELTEQEELLKFHYHTLRLYSAVCALG
                     NHRVAHALCSHVDEPQLLYAIENKYMPGLLRAGYYDLLIDIHLSSYATARLMMNNEYI
                     VPMTEETKSITLFPDENKKHGLPGIGLSTSLRPRMQFSSPSFVSISNECYQYSPEFPL
                     DILKSKTIQMLTEAVKEGSLHARDPVGGTTEFLFVPLIKLFYTLLIMGIFHNEDLKHI
                     LQLIEPSVFKEAATPEEESDTLEKELSVDDAKLQGAGEEEAKGGKRPKEGLLQMKLPE
                     PVKLQMCLLLQYLCDCQVRHRIEAIVAFSDDFVAKLQDNQRFRYNEVMQALNMSAALT
                     ARKTKEFRSPPQEQINMLLNFKDDKSECPCPEEIRDQLLDFHEDLMTHCGIELDEDGS
                     LDGNSDLTIRGRLLSLVEKVTYLKKKQAEKPVESDSKKSSTLQQLISETMVRWAQESV
                     IEDPELVRAMFVLLHRQYDGIGGLVRALPKTYTINGVSVEDTINLLASLGQIRSLLSV
                     RMGKEEEKLMIRGLGDIMNNKVFYQHPNLMRALGMHETVMEVMVNVLGGGESKEITFP
                     KMVANCCRFLCYFCRISRQNQKAMFDHLSYLLENSSVGLASPAMRGSTPLDVAAASVM
                     DNNELALALREPDLEKVVRYLAGCGLQSCQMLVSKGYPDIGWNPVEGERYLDFLRFAV
                     FCNGESVEENANVVVRLLIRRPECFGPALRGEGGNGLLAAMEEAIKIAEDPSRDGPSP
                     NSGSSKTLDTEEEEDDTIHMGNAIMTFYSALIDLLGRCAPEMHLIHAGKGEAIRIRSI
                     LRSLIPLGDLVGVISIAFQMPTIAKDGNVVEPDMSAGFCPDHKAAMVLFLDRVYGIEV
                     QDFLLHLLEVGFLPDLRAAASLDTAALSATDMALALNRYLCTAVLPLLTRCAPLFAGT
                     EHHASLIDSLLHTVYRLSKGCSLTKAQRDSIEVCLLSICGQLRPSMMQHLLRRLVFDV
                     PLLNEHAKMPLKLLTNHYERCWKYYCLPGGWGNFGAASEEELHLSRKLFWGIFDALSQ
                     KKYEQELFKLALPCLSAVAGALPPDYMESNYVSMMEKQSSMDSEGNFNPQPVDTSNIT
                     IPEKLEYFINKYAEHSHDKWSMDKLANGWIYGEIYSDSSKVQPLMKPYKLLSEKEKEI
                     YRWPIKESLKTMLARTMRTERTREGDSMALYNRTRRISQTSQVSVDAAHGYSPRAIDM
                     SNVTLSRDLHAMAEMMAENYHNIWAKKKKMELESKGGGNHPLLVPYDTLTAKEKAKDR
                     EKAQDILKFLQINGYAVSRGFKDLELDTPSIEKRFAYSFLQQLIRYVDEAHQYILEFD
                     GGSRGKGEHFPYEQEIKFFAKVVLPLIDQYFKNHRLYFLSAASRPLCSGGHASNKEKE
                     MVTSLFCKLGVLVRHRISLFGNDATSIVNCLHILGQTLDARTVMKTGLESVKSALRAF
                     LDNAAEDLEKTMENLKQGQFTHTRNQPKGVTQIINYTTVALLPMLSSLFEHIGQHQFG
                     EDLILEDVQVSCYRILTSLYALGTSKSIYVERQRSALGECLAAFAGAFPVAFLETHLD
                     KHNIYSIYNTKSSRERAALSLPTNVEDVCPNIPSLEKLMEEIVELAESGIRYTQMPHV
                     MEVILPMLCSYMSRWWEHGPENNPERAEMCCTALNSEHMNTLLGNILKIIYNNLGIDE
                     GAWMKRLAVFSQPIINKVKPQLLKTHFLPLMEKLKKKAATVVSEEDHLKAEARGDMSE
                     AELLILDEFTTLARDLYAFYPLLIRFVDYNRAKWLKEPNPEAEELFRMVAEVFIYWSK
                     SHNFKREEQNFVVQNEINNMSFLITDTKSKMSKAAVSDQERKKMKRKGDRYSMQTSLI
                     VAALKRLLPIGLNICAPGDQELIALAKNRFSLKDTEDEVRDIIRSNIHLQGKLEDPAI
                     RWQMALYKDLPNRTDDTSDPEKTVERVLDIANVLFHLEQKSKRVGRRHYCLVEHPQRS
                     KKAVWHKLLSKQRKRAVVACFRMAPLYNLPRHRAVNLFLQGYEKSWIETEEHYFEDKL
                     IEDLAKPGAEPPEEDEGTKRVDPLHQLILLFSRTALTEKCKLEEDFLYMAYADIMAKS
                     CHDEEDDDGEEEVKSFEEKEMEKQKLLYQQARLHDRGAAEMVLQTISASKGETGPMVA
                     ATLKLGIAILNGGNSTVQQKMLDYLKEKKDVGFFQSLAGLMQSCSVLDLNAFERQNKA
                     EGLGMVTEEGSGEKVLQDDEFTCDLFRFLQLLCEGHNSDFQNYLRTQTGNNTTVNIII
                     STVDYLLRVQESISDFYWYYSGKDVIDEQGQRNFSKAIQVAKQVFNTLTEYIQGPCTG
                     NQQSLAHSRLWDAVVGFLHVFAHMQMKLSQDSSQIELLKELMDLQKDMVVMLLSMLEG
                     NVVNGTIGKQMVDMLVESSNNVEMILKFFDMFLKLKDLTSSDTFKEYDPDGKGVISKR
                     DFHKAMESHKHYTQSETEFLLSCAETDENETLDYEEFVKRFHEPAKDIGFNVAVLLTN
                     LSEHMPNDTRLQTFLELAESVLNYFQPFLGRIEIMGSAKRIERVYFEISESSRTQWEK
                     PQVKESKRQFIFDVVNEGGEKEKMELFVNFCEDTIFEMQLAAQISESDLNERSANKEE
                     SEKERPEEQGPRMAFFSILTVRSALFALRYNILTLMRMLSLKSLKKQMKKVKKMTVKD
                     MVTAFFSSYWSIFMTLLHFVASVFRGFFRIICSLLLGGSLVEGAKKIKVAELLANMPD
                     PTQDEVRGDGEEGERKPLEAALPSEDLTDLKELTEESDLLSDIFGLDLKREGGQYKLI
                     PHNPNAGLSDLMSNPVPMPEVQEKFQEQKAKEEEKEEKEETKSEPEKAEGEDGEKEEK
                     AKEDKGKQKLRQLHTHRYGEPEVPESAFWKKIIAYQQKLLNYFARNFYNMRMLALFVA
                     FAINFILLFYKVSTSSVVEGKELPTRSSSENAKVTSLDSSSHRIIAVHYVLEESSGYM
                     EPTLRILAILHTVISFFCIIGYYCLKVPLVIFKREKEVARKLEFDGLYITEQPSEDDI
                     KGQWDRLVINTQSFPNNYWDKFVKRKVMDKYGEFYGRDRISELLGMDKAALDFSDARE
                     KKKPKKDSSLSAVLNSIDVKYQMWKLGVVFTDNSFLYLAWYMTMSVLGHYNNFFFAAH
                     LLDIAMGFKTLRTILSSVTHNGKQLVLTVGLLAVVVYLYTVVAFNFFRKFYNKSEDGD
                     TPDMKCDDMLTCYMFHMYVGVRAGGGIGDEIEDPAGDEYEIYRIIFDITFFFFVIVIL
                     LAIIQGLIIDAFGELRDQQEQVKEDMETKCFICGIGNDYFDTVPHGFETHTLQEHNLA
                     NYLFFLMYLINKDETEHTGQESYVWKMYQERCWEFFPAGDCFRKQYEDQLN"
     intron          169..395
                     /gene="RYR2"
                     /number=1
BASE COUNT           63 a          112 c          177 g           43 t
ORIGIN      
        1 gcgcggcccc ctccagcccc cggctcccgg cagcagaagc agaaggcagc gccaggggcc
       61 gccgccgccg ccgagctccg cggggctcgg gagccggccc cggcgaggag gcgcggaacc
      121 atggccgatg ggggcgaggg cgaagacgag atccagttcc tgcgaactgt aagcgccgtg
      181 cgtcgcgtgt gctgtcaggg gaagggggcg tcagggcatc cactagcggg gtccgggcag
      241 agtgacagcg ggcagcgggg actcgcgggc ggggcgaggg ggtgccccct gaggatgcgg
      301 gaggagcggg catcaccaag tgtgtgcagg tgtgcgtgtt ggggcgaggg aaggcaaggg
      361 cgcgtgtctg tgcgcgcgtg tggaaagcta gagga
//