LOCUS AY847596 1995 bp mRNA linear HUM 18-AUG-2005 DEFINITION Homo sapiens lamin A/C transcript variant 1 (LMNA) mRNA, complete cds, alternatively spliced. ACCESSION AY847596 VERSION AY847596.1 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McBride,H. and Tesson,F. TITLE Mutation C1443G (Y481X) in the LMNA gene responsible for dilated cardiomyopathy JOURNAL Unpublished REFERENCE 3 (bases 1 to 1995) AUTHORS Sylvius,N., Bilinska,Z.T., Veinot,J.P., Fidzianska,A., Bolongo,P., Poon,S., McKeown,P., Davies,R.A., Chan,K.-L.,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:HIT000257894" /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..1443 /gene="LMNA" /note="alternatively spliced" /codon_start=1 /product="lamin A/C transcript variant 1" /protein_id="AAW32539.1" /translation="METPSQRRATRSGAQASSTPLSPTRITRLQEKEDLQELNDRLAV YIDRVRSLETENAGLRLRITESEEVVSREVSGIKAAYEAELGDARKTLDSVAKERARL QLELSKVREEFKELKARNTKKEGDLIAAQARLKDLEALLNSKEAALSTALSEKRTLEG ELHDLRGQVAKLEAALGEAKKQLQDEMLRRVDAENRLQTMKEELDFQKNIYSEELRET KRRHETRLVEIDNGKQREFESRLADALQELRAQHEDQVEQYKKELEKTYSAKLDNARQ SAERNSNLVGAAHEELQQSRIRIDSLSAQLSQLQKQLAAKEAKLRDLEDSLARERDTS RRLLAEKEREMAEMRARMQQQLDEYQELLDIKLALDMEIHAYRKLLEGEEERLRLSPS PTSQRSRGRASSHSSQTQGGGSVTKKRKLESTESRSSFSQHARTSGRVAVEEVDEEGK FVRLRNKSNEDQSMGNWQIKRQNGDDPLLT" variation 1443 /gene="LMNA" /note="results in X481Y; mutation responsible for dilated cardiomyopathy" /replace="c" BASE COUNT 436 a 588 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 gtggatgctg 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 tagcggttcc 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 //