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 //