LOCUS       AY847595                1995 bp    mRNA    linear   HUM 08-APR-2009
DEFINITION  Homo sapiens lamin A/C transcript variant 1 (LMNA) mRNA, complete
            cds, alternatively spliced.
ACCESSION   AY847595
VERSION     AY847595.1
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 1995)
  AUTHORS   Sylvius,N., Bilinska,Z.T., Veinot,J.P., Fidzianska,A.,
            Bolongo,P.M., Poon,S., McKeown,P., Davies,R.A., Chan,K.L.,
            Tang,A.S., Dyack,S., Grzybowski,J., Ruzyllo,W., McBride,H. and
            Tesson,F.
  TITLE     In vivo and in vitro examination of the functional significances of
            novel lamin gene mutations in heart failure patients
  JOURNAL   J. Med. Genet. 42 (8), 639-647 (2005)
   PUBMED   16061563
REFERENCE   2  (bases 1 to 1995)
  AUTHORS   Sylvius,N., Bilinska,Z.T., Veinot,J.P., Fidzianska,A., Bolongo,P.,
            Poon,S., McKeown,P., Davies,R.A., Chan,K.-L., Tang,A.S., Dyack,S.,
            Grzybowski,J., Ruzyllo,W., McBride,H. and Tesson,F.
  TITLE     Mutation A575G (D192G) in the LMNA gene responsible for dilated
            cardiomyopathy
  JOURNAL   Unpublished
REFERENCE   3  (bases 1 to 1995)
  AUTHORS   Sylvius,N., Bilinska,Z.T., Veinot,J.P., Fidzianska,A., Bolongo,P.,
            Poon,S., McKeown,P., Davies,R.A., Chan,K.-L., Tang,A.S., Dyack,S.,
            Grzybowski,J., Ruzyllo,W., McBride,H. and Tesson,F.
  TITLE     Direct Submission
  JOURNAL   Submitted (06-DEC-2004) Laboratory of Genetics of Cardiac Diseases,
            University of Ottawa Heart Institute, 40 Ruskin Street, Ottawa,
            Ontario K1Y4W7, Canada
FEATURES             Location/Qualifiers
     source          1..1995
                     /db_xref="H-InvDB:HIT000257893"
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /isolation_source="dilated cardiomyopathy patient"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q21.2-q21.3"
     gene            1..1995
                     /gene="LMNA"
     CDS             1..1995
                     /gene="LMNA"
                     /note="alternatively spliced"
                     /codon_start=1
                     /product="lamin A/C transcript variant 1"
                     /protein_id="AAW32538.1"
                     /translation="METPSQRRATRSGAQASSTPLSPTRITRLQEKEDLQELNDRLAV
                     YIDRVRSLETENAGLRLRITESEEVVSREVSGIKAAYEAELGDARKTLDSVAKERARL
                     QLELSKVREEFKELKARNTKKEGDLIAAQARLKDLEALLNSKEAALSTALSEKRTLEG
                     ELHDLRGQVAKLEAALGEAKKQLQDEMLRRVGAENRLQTMKEELDFQKNIYSEELRET
                     KRRHETRLVEIDNGKQREFESRLADALQELRAQHEDQVEQYKKELEKTYSAKLDNARQ
                     SAERNSNLVGAAHEELQQSRIRIDSLSAQLSQLQKQLAAKEAKLRDLEDSLARERDTS
                     RRLLAEKEREMAEMRARMQQQLDEYQELLDIKLALDMEIHAYRKLLEGEEERLRLSPS
                     PTSQRSRGRASSHSSQTQGGGSVTKKRKLESTESRSSFSQHARTSGRVAVEEVDEEGK
                     FVRLRNKSNEDQSMGNWQIKRQNGDDPLLTYRFPPKFTLKAGQVVTIWAAGAGATHSP
                     PTDLVWKAQNTWGCGNSLRTALINSTGEEVAMRKLVRSVTVVEDDEDEDGDDLLHHHH
                     GSHCSSSGDPAEYNLRSRTVLCGTCGQPADKASASGSGAQVGGPISSGSSASSVTVTR
                     SYRSVGGSGGGSFGDNLVTRSYLLGNSSPRTQSPQNCSIM"
     variation       575
                     /gene="LMNA"
                     /note="results in G192D; mutation responsible for dilated
                     cardiomyopathy"
                     /replace="a"
BASE COUNT          435 a          589 c          674 g          297 t
ORIGIN      
        1 atggagaccc cgtcccagcg gcgcgccacc cgcagcgggg cgcaggccag ctccactccg
       61 ctgtcgccca cccgcatcac ccggctgcag gagaaggagg acctgcagga gctcaatgat
      121 cgcttggcgg tctacatcga ccgtgtgcgc tcgctggaaa cggagaacgc agggctgcgc
      181 cttcgcatca ccgagtctga agaggtggtc agccgcgagg tgtccggcat caaggccgcc
      241 tacgaggccg agctcgggga tgcccgcaag acccttgact cagtagccaa ggagcgcgcc
      301 cgcctgcagc tggagctgag caaagtgcgt gaggagttta aggagctgaa agcgcgcaat
      361 accaagaagg agggtgacct gatagctgct caggctcggc tgaaggacct ggaggctctg
      421 ctgaactcca aggaggccgc actgagcact gctctcagtg agaagcgcac gctggagggc
      481 gagctgcatg atctgcgggg ccaggtggcc aagcttgagg cagccctagg tgaggccaag
      541 aagcaacttc aggatgagat gctgcggcgg gtgggtgctg agaacaggct gcagaccatg
      601 aaggaggaac tggacttcca gaagaacatc tacagtgagg agctgcgtga gaccaagcgc
      661 cgtcatgaga cccgactggt ggagattgac aatgggaagc agcgtgagtt tgagagccgg
      721 ctggcggatg cgctgcagga actgcgggcc cagcatgagg accaggtgga gcagtataag
      781 aaggagctgg agaagactta ttctgccaag ctggacaatg ccaggcagtc tgctgagagg
      841 aacagcaacc tggtgggggc tgcccacgag gagctgcagc agtcgcgcat ccgcatcgac
      901 agcctctctg cccagctcag ccagctccag aagcagctgg cagccaagga ggcgaagctt
      961 cgagacctgg aggactcact ggcccgtgag cgggacacca gccggcggct gctggcggaa
     1021 aaggagcggg agatggccga gatgcgggca aggatgcagc agcagctgga cgagtaccag
     1081 gagcttctgg acatcaagct ggccctggac atggagatcc acgcctaccg caagctcttg
     1141 gagggcgagg aggagaggct acgcctgtcc cccagcccta cctcgcagcg cagccgtggc
     1201 cgtgcttcct ctcactcatc ccagacacag ggtgggggca gcgtcaccaa aaagcgcaaa
     1261 ctggagtcca ctgagagccg cagcagcttc tcacagcacg cacgcactag cgggcgcgtg
     1321 gccgtggagg aggtggatga ggagggcaag tttgtccggc tgcgcaacaa gtccaatgag
     1381 gaccagtcca tgggcaattg gcagatcaag cgccagaatg gagatgatcc cttgctgact
     1441 taccggttcc caccaaagtt caccctgaag gctgggcagg tggtgacgat ctgggctgca
     1501 ggagctgggg ccacccacag cccccctacc gacctggtgt ggaaggcaca gaacacctgg
     1561 ggctgcggga acagcctgcg tacggctctc atcaactcca ctggggaaga agtggccatg
     1621 cgcaagctgg tgcgctcagt gactgtggtt gaggacgacg aggatgagga tggagatgac
     1681 ctgctccatc accaccacgg ctcccactgc agcagctcgg gggaccccgc tgagtacaac
     1741 ctgcgctcgc gcaccgtgct gtgcgggacc tgcgggcagc ctgccgacaa ggcatctgcc
     1801 agcggctcag gagcccaggt gggcggaccc atctcctctg gctcttctgc ctccagtgtc
     1861 acggtcactc gcagctaccg cagtgtgggg ggcagtgggg gtggcagctt cggggacaat
     1921 ctggtcaccc gctcctacct cctgggcaac tccagccccc gaacccagag cccccagaac
     1981 tgcagcatca tgtaa
//