LOCUS AY357727 2257 bp mRNA linear HUM 31-DEC-2003 DEFINITION Homo sapiens progerin mRNA, complete cds. ACCESSION AY357727 VERSION AY357727.1 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1 (bases 1 to 2257) AUTHORS Csoka,A.B. TITLE The progerin allele of lamin A disrupts chromatin organization JOURNAL Unpublished REFERENCE 2 (bases 1 to 2257) AUTHORS Csoka,A.B. TITLE Direct Submission JOURNAL Submitted (31-JUL-2003) OB-GYN and Reproductive Sciences, University of Pittsburgh, 204 Craft Avenue, Pittsburgh, PA 15213, USA FEATURES Location/Qualifiers source 1..2257 /db_xref="H-InvDB:HIT000252121" /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="1" /map="1q22" CDS 198..2042 /note="nuclear lamin A protein variant; usually only found in patients affected with Hutchinson-Gilford Progeria Syndrome" /codon_start=1 /product="progerin" /protein_id="AAR29466.1" /translation="METPSQRRATRSGAQASSTPLSPTRITRLQEKEDLQELNDRLAV YIDRVRSLETENAGLRLRITESEEVVSREVSGIKAAYEAELGDARKTLDSVAKERARL QLELSKVREEFKELKARNTKKEGDLIAAQARLKDLEALLNSKEAALSTALSEKRTLEG ELHDLRGQVAKLEAALGEAKKQLQDEMLRRVDAENRLQTMKEELDFQKNIYSEELRET KRRHETRLVEIDNGKQREFESRLADALQELRAQHEDQVEQYKKELEKTYSAKLDNARQ SAERNSNLVGAAHEELQQSRIRIDSLSAQLSQLQKQLAAKEAKLRDLEDSLARERDTS RRLLAEKEREMAEMRARMQQQLDEYQELLDIKLALDMEIHAYRKLLEGEEERLRLSPS PTSQRSRGRASSHSSQTQGGGSVTKKRKLESTESRSSFSQHARTSGRVAVEEVDEEGK FVRLRNKSNEDQSMGNWQIKRQNGDDPLLTYRFPPKFTLKAGQVVTIWAAGAGATHSP PTDLVWKAQNTWGCGNSLRTALINSTGEEVAMRKLVRSVTVVEDDEDEDGDDLLHHHH GSHCSSSGDPAEYNLRSRTVLCGTCGQPADKASASGSGAQSPQNCSIM" BASE COUNT 508 a 674 c 730 g 345 t ORIGIN 1 gagcgccgca cctacaccag ccaacccaga tcccgaggtc cgacagcgcc cggcccagat 61 ccccacgcct gccaggagca agccgagagc cagccggccg gcgcactccg actccgagca 121 gtctctgtcc ttcgacccga gccccgcgcc ctttccggga cccctgcccc gcgggcagcg 181 ctgccaacct gccggccatg gagaccccgt cccagcggcg cgccacccgc agcggggcgc 241 aggccagctc cactccgctg tcgcccaccc gcatcacccg gctgcaggag aaggaggacc 301 tgcaggagct caatgatcgc ttggcggtct acatcgaccg tgtgcgctcg ctggaaacgg 361 agaacgcagg gctgcgcctt cgcatcaccg agtctgaaga ggtggtcagc cgcgaggtgt 421 ccggcatcaa ggccgcctac gaggccgagc tcggggatgc ccgcaagacc cttgactcag 481 tagccaagga gcgcgcccgc ctgcagctgg agctgagcaa agtgcgtgag gagtttaagg 541 agctgaaagc gcgcaatacc aagaaggagg gtgacctgat agctgctcag gctcggctga 601 aggacctgga ggctctgctg aactccaagg aggccgcact gagcactgct ctcagtgaga 661 agcgcacgct ggagggcgag ctgcatgatc tgcggggcca ggtggccaag cttgaggcag 721 ccctaggtga ggccaagaag caacttcagg atgagatgct gcggcgggtg gatgctgaga 781 acaggctgca gaccatgaag gaggaactgg acttccagaa gaacatctac agtgaggagc 841 tgcgtgagac caagcgccgt catgagaccc gactggtgga gattgacaat gggaagcagc 901 gtgagtttga gagccggctg gcggatgcgc tgcaggaact gcgggcccag catgaggacc 961 aggtggagca gtataagaag gagctggaga agacttattc tgccaagctg gacaatgcca 1021 ggcagtctgc tgagaggaac agcaacctgg tgggggctgc ccacgaggag ctgcagcagt 1081 cgcgcatccg catcgacagc ctctctgccc agctcagcca gctccagaag cagctggcag 1141 ccaaggaggc gaagcttcga gacctggagg actcactggc ccgtgagcgg gacaccagcc 1201 ggcggctgct ggcggaaaag gagcgggaga tggccgagat gcgggcaagg atgcagcagc 1261 agctggacga gtaccaggag cttctggaca tcaagctggc cctggacatg gagatccacg 1321 cctaccgcaa gctcttggag ggcgaggagg agaggctacg cctgtccccc agccctacct 1381 cgcagcgcag ccgtggccgt gcttcctctc actcatccca gacacagggt gggggcagcg 1441 tcaccaaaaa gcgcaaactg gagtccactg agagccgcag cagcttctca cagcacgcac 1501 gcactagcgg gcgcgtggcc gtggaggagg tggatgagga gggcaagttt gtccggctgc 1561 gcaacaagtc caatgaggac cagtccatgg gcaattggca gatcaagcgc cagaatggag 1621 atgatccctt gctgacttac cggttcccac caaagttcac cctgaaggct gggcaggtgg 1681 tgacgatctg ggctgcagga gctggggcca cccacagccc ccctaccgac ctggtgtgga 1741 aggcacagaa cacctggggc tgcgggaaca gcctgcgtac ggctctcatc aactccactg 1801 gggaagaagt ggccatgcgc aagctggtgc gctcagtgac tgtggttgag gacgacgagg 1861 atgaggatgg agatgacctg ctccatcacc accacggctc ccactgcagc agctcggggg 1921 accccgctga gtacaacctg cgctcgcgca ccgtgctgtg cgggacctgc gggcagcctg 1981 ccgacaaggc atctgccagc ggctcaggag cccagagccc ccagaactgc agcatcatgt 2041 aatctgggac ctgccaggca ggggtggggg tggaggcttc ctgcgtcctc ctcacctcat 2101 gcccaccccc tgccctgcac gtcatgggag ggggcttgaa gccaaagaaa aataaccctt 2161 tggttttttt cttctgtatt tttttttcta agagaagtta ttttctacag tggttttata 2221 ctgaaggaaa aacacaagca aaaaaaaaaa aaaaaaa //