LOCUS       JN900469                1146 bp    mRNA    linear   HUM 10-AUG-2012
DEFINITION  Homo sapiens cardiac triadin Trisk 32 isoform (TRDN) mRNA, complete
            cds.
ACCESSION   JN900469
VERSION     JN900469.1
KEYWORDS    .
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 1146)
  AUTHORS   Roux-Buisson,N., Cacheux,M., Fourest-Lieuvin,A., Fauconnier,J.,
            Brocard,J., Denjoy,I., Durand,P., Guicheney,P., Kyndt,F.,
            Leenhardt,A., Le Marec,H., Lucet,V., Mabo,P., Probst,V.,
            Monnier,N., Ray,P.F., Santoni,E., Tremeaux,P., Lacampagne,A.,
            Faure,J., Lunardi,J. and Marty,I.
  TITLE     Absence of triadin, a protein of the calcium release complex, is
            responsible for cardiac arrhythmia with sudden death in human
  JOURNAL   Hum. Mol. Genet. 21 (12), 2759-2767 (2012)
   PUBMED   22422768
REFERENCE   2  (bases 1 to 1146)
  AUTHORS   Marty,I.
  TITLE     Direct Submission
  JOURNAL   Submitted (24-OCT-2011) Inserm U36 - Grenoble Institut des
            Neurosciences - Grenoble - France, Bat EJ Safra - Chemin Fortune
            Ferrini, La Tronche, Please Select 38700, France
FEATURES             Location/Qualifiers
     source          1..1146
                     /db_xref="H-InvDB:HIT000721289"
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
     gene            1..1146
                     /gene="TRDN"
     5'UTR           1..132
                     /gene="TRDN"
     CDS             133..993
                     /gene="TRDN"
                     /note="CT1"
                     /codon_start=1
                     /product="cardiac triadin Trisk 32 isoform"
                     /protein_id="AEW10557.1"
                     /translation="MTEITAEGNASTTTTVIDSKNGSVPKSPGKVLKRTVTEDIVTTF
                     SSPAAWLLVIALIITWSAVAIVMFDLVDYKNFSASSIAKIGSDPLKLVRDAMEETTDW
                     IYGFFSLLSDIISSEDEEDDDGDEDTDKGEIDEPPLRKKEIHKDKTEKQEKPERKIQT
                     KVTHKEKEKGKEKVREKEKPEKKATHKEKIEKKEKPETKTLAKEQKKAKTAEKSEEKT
                     KKEVKGGKQEKVKQTAAKVKEVQKTPSKPKEKEDKEKAAVSKHEQKGKHSEQEAAGGS
                     KRILGKKHMQ"
     variation       515
                     /gene="TRDN"
                     /note="results in threonine to serine substitution;
                     Thr128Ser"
                     /replace="g"
     variation       733
                     /gene="TRDN"
                     /note="results in leucine to valine substitution;
                     Leu201Val"
                     /replace="g"
     3'UTR           994..1146
                     /gene="TRDN"
BASE COUNT          484 a          198 c          245 g          219 t
ORIGIN      
        1 aacagccagg aaaacgaaga gcccccaggt tttgacacag aaccctccac cagagttctc
       61 aaatccccaa atactctgca aagtgcaact tgacgggaac ttttcaactg acttttactt
      121 ttgacgacca ccatgactga gatcactgct gaaggaaatg catctacaac cacaactgtg
      181 atagacagca aaaatggatc tgtgcccaaa tcccccggaa aagtgctgaa gaggacagtc
      241 acagaagaca tagtgacgac gttcagctcc cctgcagcct ggcttctggt cattgccctg
      301 ataatcacgt ggtcagctgt tgccatcgtt atgtttgatt tagtggatta caaaaacttt
      361 tcagcaagct ctattgccaa gattggctca gatcctttaa aactggtacg tgatgctatg
      421 gaggaaacca cggactggat ctatggcttc ttttctttgt tatctgacat catctcatct
      481 gaagatgaag aagatgatga tggtgacgaa gatactgata aaggagaaat agatgagcct
      541 cccttgagaa aaaaagaaat acacaaagat aagactgaaa aacaagagaa acctgaaagg
      601 aaaatacaaa ctaaagttac acacaaagaa aaagaaaaag gaaaagaaaa agtaagagaa
      661 aaagaaaaac ctgaaaagaa agcaactcac aaggaaaaaa ttgagaaaaa agaaaaacca
      721 gaaacaaaga cactggcgaa agaacagaag aaagctaaga ctgcagaaaa gagtgaagaa
      781 aagactaaaa aggaagtgaa aggtggaaaa caggagaaag tgaagcaaac agctgcaaaa
      841 gtaaaagaag tacagaaaac accatcaaaa cccaaagaaa aggaggacaa agagaaagca
      901 gctgtgtcaa agcatgaaca gaaaggtaaa cattcagagc aggaggctgc cggaggttct
      961 aagagaatat tgggcaagaa gcacatgcag tgaaattaaa agttgaaaaa gaccaaaatc
     1021 agacttcaaa tgggggtaaa agacattaaa gtaaatatat cagaaaagaa atacagtaaa
     1081 ttgggaatta atatttattt ataaaaatac taaaatgtgt tcacagatct aaaggggcat
     1141 tttgaa
//