LOCUS AF018080 3511 bp mRNA linear HUM 10-MAY-2002 DEFINITION Homo sapiens PYRIN (MEFV) mRNA, complete cds. ACCESSION AF018080 VERSION AF018080.1 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 3511) AUTHORS The International FMF Consortium. TITLE Ancient missense mutations in a new member of the RoRet gene family are likely to cause familial Mediterranean fever. The International FMF Consortium JOURNAL Cell 90 (4), 797-807 (1997) PUBMED 9288758 REFERENCE 2 (bases 1 to 3511) AUTHORS Kastner,D.L. TITLE Direct Submission JOURNAL Submitted (08-AUG-1997) ARB/NIAMS, National Institutes of Health, 9000 Rockville Pike, Bethesda, MD 20892, USA FEATURES Location/Qualifiers source 1..3511 /db_xref="H-InvDB:HIT000062452" /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="16" /map="16p13.3" gene 1..3511 /gene="MEFV" CDS 42..2387 /gene="MEFV" /note="mutations in this gene can cause familial mediterranean fever" /codon_start=1 /product="PYRIN" /protein_id="AAB70557.1" /translation="MAKTPSDHLLSTLEELVPYDFEKFKFKLQNTSVQKEHSRIPRSQ IQRARPVKMATLLVTYYGEEYAVQLTLQVLRAINQRLLAEELHRAAIQEYSTQENGTD DSAASSSLGENKPRSLKTPDHPEGNEGNGPRPYGGGAASLRCSQPEAGRGLSRKPLSK RREKASEGLDAQGKPRTRSPALPGGRSPGPCRALEGGQAEVRLRRNASSAGRLQGLAG GAPGQKECRPFEVYLPSGKMRPRSLEVTISTGEKAPANPEILLTLEEKTAANLDSATE PRARPTPDGGASADLKEGPGNPEHSVTGRPPDTAASPRCHAQEGDPVDGTCVRDSCSF PEAVSGHPQASGSRSPGCPRCQDSHERKSPGSLSPQPLPQCKRHLKQVQLLFCEDHDE PICLICSLSQEHQGHRVRPIEEVALEHKKKIQKQLEHLKKLRKSGEEQRSYGEEKAVS FLKQTEALKQRVQRKLEQVYYFLEQQEHFFVASLEDVGQMVGQIRKAYDTRVSQDIAL LDALIGELEAKECQSEWELLQDIGDILHRAKTVPVPEKWTTPQEIKQKIQLLHQKSEF VEKSTKYFSETLRSEMEMFNVPELIGAQAHAVNVILDAETAYPNLIFSDDLKSVRLGN KWERLPDGPQRFDSCIIVLGSPSFLSGRRYWEVEVGDKTAWILGACKTSISRKGNMTL SPENGYWVVIMMKENEYQASSVPPTRLLIKEPPKRVGIFVDYRVGSISFYNVTARSHI YTFASCSFSGPLQPIFSPGTRDGGKNTAPLTICPVGGQGPD" misc_feature 837..881 /gene="MEFV" /note="Region: bZIP basic domain" misc_feature 1164..1262 /gene="MEFV" /note="Region: B-box zinc finger domain" misc_feature 1299..1352 /gene="MEFV" /note="Region: Nuclear Localization Signals" misc_feature 1770..2312 /gene="MEFV" /note="Region: B30-2 Domain" variation 2081 /gene="MEFV" /standard_name="M680I" /note="not present in normal individuals" /phenotype="FMF" /replace="c" variation 2121 /gene="MEFV" /standard_name="M694V" /note="not present in normal individuals" /phenotype="FMF" /replace="g" variation 2218 /gene="MEFV" /standard_name="V726A" /note="not present in normal individuals" /phenotype="FMF" /replace="c" repeat_region 2845..3140 /gene="MEFV" /rpt_family="Alu" /rpt_type=dispersed repeat_region 3161..3450 /gene="MEFV" /rpt_family="Alu" /rpt_type=dispersed regulatory 3483..3488 /regulatory_class="polyA_signal_sequence" /gene="MEFV" BASE COUNT 842 a 965 c 997 g 707 t ORIGIN 1 ggaagccaga cagctggctc gagcctctcc tgctcagcac catggctaag acccctagtg 61 accatctgct gtccaccctg gaggagctgg tgccctatga cttcgagaag ttcaagttca 121 agctgcagaa caccagtgtg cagaaggagc actccaggat cccccggagc cagatccaga 181 gagccaggcc ggtgaagatg gccactctgc tggtcaccta ctatggggaa gagtacgccg 241 tgcagctcac cctgcaggtc ctgcgggcca tcaaccagcg cctgctggcc gaggagctcc 301 acagggcagc cattcaggaa tattccacac aagaaaacgg cacagatgat tccgcagcgt 361 ccagctccct gggggagaac aagcccagga gcctgaagac tccagaccac cccgagggga 421 acgaggggaa cggccctcgg ccgtacgggg gcggagctgc cagcctgcgg tgcagccagc 481 ccgaggccgg gagggggctg tcgaggaagc ccctgagcaa acgcagagag aaggcctcgg 541 agggcctgga cgcgcagggc aagcctcgga cccggagccc ggccctgccg ggcgggagaa 601 gccccggccc ctgcagggcg ctagaggggg gccaggccga ggtccggctg cgcagaaacg 661 ccagctccgc ggggaggctg caggggctgg cggggggcgc cccggggcag aaggagtgca 721 ggcccttcga agtgtacctg ccctcgggaa agatgcgacc tagaagcctt gaggtcacca 781 tttctacagg ggagaaggcg cccgcaaatc cagaaattct cctgactcta gaggaaaaga 841 cagctgcgaa tctggactcg gcaacagaac cccgggcaag gcccactccg gatggagggg 901 catctgcgga cctgaaggaa ggccctggaa atccagaaca ttcggtcacc ggaaggccac 961 cagacacggc tgcgagtccc cgctgccacg cccaggaagg agacccagtt gacggtacct 1021 gtgtgcgtga ttcctgcagc ttccccgagg cagtttctgg gcacccccag gcctcaggca 1081 gccgctcacc tggctgcccc cggtgccagg actcccatga aaggaagagc ccgggaagcc 1141 taagccccca gcccctgcca cagtgtaagc gccacctgaa gcaggtccag ctgctcttct 1201 gtgaggatca cgatgagccc atctgcctca tctgcagtct gagtcaggag caccaaggcc 1261 accgggtgcg ccccattgag gaggtcgccc tggaacacaa gaagaaaatt cagaagcagc 1321 tggagcatct gaagaagctg agaaaatcag gggaggagca gcgatcctat ggggaggaga 1381 aggcagtgag ctttctgaaa caaactgaag cgctgaagca gcgggtgcag aggaagctgg 1441 agcaggtgta ctacttcctg gaacagcagg agcatttctt tgtggcctca ctggaggacg 1501 tgggccagat ggttgggcag atcaggaagg catatgacac ccgcgtatcc caggacatcg 1561 ccctgctcga tgcgctgatt ggggaactgg aggccaagga gtgccagtca gaatgggaac 1621 ttctgcagga cattggagac atcttgcaca gggctaagac agtgcctgtc cctgaaaagt 1681 ggaccactcc tcaagagata aaacaaaaga tccaactcct ccaccagaag tcagagtttg 1741 tggagaagag cacaaagtac ttctcagaaa ccctgcgttc agaaatggaa atgttcaatg 1801 ttccagagct gattggcgct caggcacatg ctgttaatgt gattctggat gcagaaaccg 1861 cttaccccaa cctcatcttc tctgatgatc tgaagagtgt tagacttgga aacaagtggg 1921 agaggctgcc tgatggcccg caaagatttg acagctgtat cattgttctg ggctctccga 1981 gtttcctctc tggccgccgt tactgggagg tggaggttgg agacaagaca gcatggatcc 2041 tgggagcctg caagacatcc ataagcagga aagggaacat gactctgtcg ccagagaatg 2101 gctactgggt ggtgataatg atgaaggaaa atgagtacca ggcgtccagc gttcccccga 2161 cccgcctgct aataaaggag cctcccaagc gtgtgggcat cttcgtggac tacagagttg 2221 gaagcatctc cttttacaat gtgacagcca gatcccacat ctatacattc gccagctgct 2281 ctttctctgg gccccttcaa cctatcttca gccctgggac acgtgatgga gggaagaaca 2341 cagctcctct gactatctgt ccagtgggtg gtcaggggcc tgactgaatg cccaacactg 2401 catctctctt cctgcttctg gccttgtatc ttgcattcac actcaatagt cacggaatgc 2461 cgactaggtg ctagctgcta tgggaaatgc aaaaataaca aaatagttac tgtgcccacg 2521 gagcctaccc gattatagca gaggtaagtt aggaacgaac atgttagtca atccgggtga 2581 agacatgtac tgatgacaca ccatggattt cagaggagga agtacggagt cgttgcataa 2641 tccgcccctg gtgggtggca ctctcaggtg ctcctgaaca gaagatttgg ccctcatttt 2701 ccctcagaac cccacggcaa ggatatatgt ccccttgttc tctctgcttc tgtcttgagg 2761 atatgggaag cctagagaaa cgcaagcaga ctggattggg atagaagtat ttgtgtacct 2821 ggattaatga actatgattt tttttttttt tttttgagac caaatcttgc tctgtggccc 2881 aggctggagt gcagtggcac gatctcagct cactgcaacc tccacctccc aggttcaagc 2941 gattctcctg cctcagcctc ctgagcagct gggattacag gtgcgtgcca ccacaccagg 3001 ctggttttct tgtattttta gtagagacgg gggtttcacc atgttagcca ggctggtctc 3061 gaactcctga cctcaggtga tccacccgcc tcagcctccc aaagtgctgg gattacaggc 3121 atgagccact gtgcccggcc tatgattctt tttttttttt ttttttgaga caaagttttg 3181 ctcttgtcac ccaggctgga gtgcagtggt gcaatcttgg ctcactgcaa cctccgcctc 3241 ccaggttcaa gagattctcc tgcctcagcc tccgaagtag ctgggattac aggcgcccgc 3301 caccatgccc ggctaatttt ttgcattttt agtagacatg aggtttcatc atgttggcca 3361 ggccggtctc aaactcctga cctcaggtga tgcacccacc tcagcctccc aaagtgcagg 3421 gattacaggc atgagccacc atgcctggcc atgattctta agagaattga ctgggcctca 3481 tgaataaaaa aattagaaaa tctaaaaaaa a //