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
//