LOCUS AAW32538.1 664 aa PRT HUM 08-APR-2009 DEFINITION Homo sapiens lamin A/C transcript variant 1 protein. ACCESSION AY847595-1 PROTEIN_ID AAW32538.1 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McBride,H. and Tesson,F. TITLE Mutation A575G (D192G) in the LMNA gene responsible for dilated cardiomyopathy JOURNAL Unpublished REFERENCE 3 (bases 1 to 1995) AUTHORS Sylvius,N., Bilinska,Z.T., Veinot,J.P., Fidzianska,A., Bolongo,P., Poon,S., McKeown,P., Davies,R.A., Chan,K.-L.,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 Qualifiers source /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" protein /gene="LMNA" /note="alternatively spliced" BEGIN 1 METPSQRRAT RSGAQASSTP LSPTRITRLQ EKEDLQELND RLAVYIDRVR SLETENAGLR 61 LRITESEEVV SREVSGIKAA YEAELGDARK TLDSVAKERA RLQLELSKVR EEFKELKARN 121 TKKEGDLIAA QARLKDLEAL LNSKEAALST ALSEKRTLEG ELHDLRGQVA KLEAALGEAK 181 KQLQDEMLRR VGAENRLQTM KEELDFQKNI YSEELRETKR RHETRLVEID NGKQREFESR 241 LADALQELRA QHEDQVEQYK KELEKTYSAK LDNARQSAER NSNLVGAAHE ELQQSRIRID 301 SLSAQLSQLQ KQLAAKEAKL RDLEDSLARE RDTSRRLLAE KEREMAEMRA RMQQQLDEYQ 361 ELLDIKLALD MEIHAYRKLL EGEEERLRLS PSPTSQRSRG RASSHSSQTQ GGGSVTKKRK 421 LESTESRSSF SQHARTSGRV AVEEVDEEGK FVRLRNKSNE DQSMGNWQIK RQNGDDPLLT 481 YRFPPKFTLK AGQVVTIWAA GAGATHSPPT DLVWKAQNTW GCGNSLRTAL INSTGEEVAM 541 RKLVRSVTVV EDDEDEDGDD LLHHHHGSHC SSSGDPAEYN LRSRTVLCGT CGQPADKASA 601 SGSGAQVGGP ISSGSSASSV TVTRSYRSVG GSGGGSFGDN LVTRSYLLGN SSPRTQSPQN 661 CSIM //