LOCUS       AH004669                2967 bp    DNA     linear   HUM 01-AUG-2016
DEFINITION  Homo sapiens inactivating mutations associated with campomelic
            dysplasia and autosomal XY sex reversal syndromes (SOX9) gene,
            complete cds.
ACCESSION   AH004669 S74504 S74505 S74506
VERSION     AH004669.2
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 2967)
  AUTHORS   Wagner,T., Wirth,J., Meyer,J., Zabel,B., Held,M., Zimmer,J.,
            Pasantes,J., Bricarelli,F.D., Keutel,J., Hustert,E., Wolf,U.,
            Tommerup,N., Schempp,W. and Scherer,G.
  TITLE     Autosomal sex reversal and campomelic dysplasia are caused by
            mutations in and around the SRY-related gene SOX9
  JOURNAL   Cell 79 (6), 1111-1120 (1994)
   PUBMED   8001137
COMMENT     On or before Aug 1, 2016 this sequence version replaced gi:807057,
            gi:807058, gi:807059, gi:1683406.
FEATURES             Location/Qualifiers
     source          1..2967
                     /organism="Homo sapiens"
                     /mol_type="genomic DNA"
                     /db_xref="taxon:9606"
     gene            529..2338
                     /gene="SOX9"
     CDS             join(529..959,1100..1353,1494..2338)
                     /gene="SOX9"
                     /codon_start=1
                     /product="inactivating mutations associated with
                     campomelic dysplasia and autosomal XY sex reversal
                     syndromes"
                     /protein_id="AAB32870.1"
                     /translation="MNLLDPFMKMTDEQEKGLSGAPSPTMSEDSAGSPCPSGSGSDTE
                     NTRPQENTFPKGEPDLKKESEEDKFPVCIREAVSQVLKGYDWTLVPMPVRVNGSSKNK
                     PHVKRPMNAFMVWAQAARRKLADQYPHLHNAELSKTLGKLWRLLNESEKRPFVEEAER
                     LRVQHKKDHPDYKYQPRRRKSVKNGQAEAEEATEQTHISPNAIFKALQADSPHSSSGM
                     SEVHSPGEHSGQSQGPPTPPTTPKTDVQPGKADLKREGRPLPEGGRQPPIDFRDVDIG
                     ELSSDVISNIETFDVNEFDQYLPPNGHPGVPATHGQVTYTGSYGISSTAATPASAGHV
                     WMSKQQAPPPPPQQPPQAPPAPQAPPQPQAAPPQQPAAPPQQPQAHTLTTLSSEPGQS
                     QRTHIKTEQLSPSHYSEQQQHSPQQIAYSPFNLPHYSPSYPPITRSQYDYTDHQNSSS
                     YYSHAAGQGTGLYSTFTYMNPAQRPMYTPIADTSGVPSIPQTHSPQHWEQPVYTQLTR
                     P"
     gap             980..1079
                     /estimated_length=unknown
     gap             1374..1473
                     /estimated_length=unknown
BASE COUNT          615 a          941 c          725 g          486 t
ORIGIN      
        1 cccgcctcgt cacccagccc agtgccacaa tcctcctccc tccccaaaat cgggtccaat
       61 cagctgcctg ccaaccctgg gactgctgtg ctgtgattgg cgggtggctc taaggtgagg
      121 cggagtattt attaaagaga ccctgggctg ggagttggag agccgaaagc ggagctcgaa
      181 actgactgga aacttcagtg gcgcggagac tcgccagttt caaccccgga aacttttctt
      241 tgcaggagga gaagagaagg ggtgcaagcg cccccacttt tgctcttttt cctcccctcc
      301 tcctcctctc caattcgcct ccccccactt ggagcgggca gctgtgaact ggccaccccg
      361 cgccttccta agtgctcgcc gcggtagccg gccgacgcgc cagcttcccc gggagccgct
      421 tgctccgcat ccgggcagcc gagggaagag gagcccgcgc ctcgagtccc cgagccgccg
      481 cgctttctcg cctttcccgg tcaccagccc cctgccccgg gcccgcgtat gaatctcctg
      541 gaccccttca tgaagatgac cgacgagcag gagaagggcc tgtccggcgc ccccagcccc
      601 accatgtccg aggactccgc gggctcgccc tgcccgtcgg gctccggctc ggacaccgag
      661 aacacgcggc cccaggagaa cacgttcccc aagggcgagc ccgatctgaa gaaggagagc
      721 gaggaggaca agttccccgt gtgcatccgc gaggcggtca gccaggtgct caaaggctac
      781 gactggacgc tggtgcccat gccggtgcgc gtcaacggct ccagcaagaa caagccgcac
      841 gtcaagcggc ccatgaacgc cttcatggtg tgggcgcagg cggcgcgcag gaagctcgcg
      901 gaccagtacc cgcacttgca caacgccgag ctcagcaaga cgctgggcaa gctctggagg
      961 taggacccgg cgggggcggn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn
     1021 nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnc
     1081 cccgccccgc cccgagcaga cttctgaacg agagcgagaa gcggcccttc gtggaggagg
     1141 cggagcggct gcgcgtgcag cacaagaagg accacccgga ttacaagtac cagccgcggc
     1201 ggaggaagtc ggtgaagaac gggcaggcgg aggcagagga ggccacggag cagacgcaca
     1261 tctcccccaa cgccatcttc aaggcgctgc aggccgactc gccacactcc tcctccggca
     1321 tgagcgaggt gcactccccc ggcgagcact cgggtgagtc gcccctcgac cccnnnnnnn
     1381 nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn
     1441 nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnntgttctt ttattgtcca cagggcaatc
     1501 ccagggccca ccgaccccac ccaccacccc caaaaccgac gtgcagccgg gcaaggctga
     1561 cctgaagcga gaggggcgcc ccttgccaga ggggggcaga cagcccccta tcgacttccg
     1621 cgacgtggac atcggcgagc tgagcagcga cgtcatctcc aacatcgaga ccttcgatgt
     1681 caacgagttt gaccagtacc tgccgcccaa cggccacccg ggggtgccgg ccacgcacgg
     1741 ccaggtcacc tacacgggca gctacggcat cagcagcacc gcggccaccc cggcgagcgc
     1801 gggccacgtg tggatgtcca agcagcaggc gccgccgcca cccccgcagc agcccccaca
     1861 ggccccgccg gccccgcagg cgcccccgca gccgcaggcg gcgcccccac agcagccggc
     1921 ggcacccccg cagcagccac aggcgcacac gctgaccacg ctgagcagcg agccgggcca
     1981 gtcccagcga acgcacatca agacggagca gctgagcccc agccactaca gcgagcagca
     2041 gcagcactcg ccccaacaga tcgcctacag ccccttcaac ctcccacact acagcccctc
     2101 ctacccgccc atcacccgct cacagtacga ctacaccgac caccagaact ccagctccta
     2161 ctacagccac gcggcaggcc agggcaccgg cctctactcc accttcacct acatgaaccc
     2221 cgctcagcgc cccatgtaca cccccatcgc cgacacctct ggggtccctt ccatcccgca
     2281 gacccacagc ccccagcact gggaacaacc cgtctacaca cagctcactc gaccttgagg
     2341 aggcctccca cgaagggcga cgatggccga gatgatccta aaaataaccg aagaaagaga
     2401 ggaccaacca gaattccctt tggacatttg tgtttttttg tttttttatt ttgttttgtt
     2461 ttttcttctt cttcttcttc cttaaagaca tttaagctaa aggcaactcg tacccaaatt
     2521 tccaagacac aaacatgacc tatccaagcg cattacccac ttgtggccaa tcagtggcca
     2581 ggccaacctt ggctaaatgg agcagcgaaa tcaacgagaa actggacttt ttaaaccctc
     2641 ttcagagcaa gcgtggagga tgatggagaa tcgtgtgatc agtgtgctaa atctctctgc
     2701 ctgtttggac tttgtaatta tttttttagc agtaattaaa gaaaaaagtc ctctgtgagg
     2761 aatattctct attttaaata tttttagtat gtactgtgta tgattcatta ccattttgag
     2821 gggatttata catattttta gataaaatta aatgctctta tttttccaac agctaaacta
     2881 ctcttagttg aacagtgtgc cctagctttt cttgcaacca gagtattttt gtacagattt
     2941 gctttctctt acaaaaaaaa aaaaaaa
//