LOCUS       AAB32870.1               509 aa    PRT              HUM 01-AUG-2016
DEFINITION  Homo sapiens inactivating mutations associated with campomelic
            dysplasia and autosomal XY sex reversal syndromes protein.
ACCESSION   AH004669-1
PROTEIN_ID  AAB32870.1
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 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 S74504.1,
            S74505.1, S74506.1, AH004669.1.
FEATURES             Qualifiers
     source          /organism="Homo sapiens"
                     /mol_type="genomic DNA"
                     /db_xref="taxon:9606"
     protein         /gene="SOX9"
     intron_pos      144:2 (1/2)
     intron_pos      229:1 (2/2)
BEGIN
        1 MNLLDPFMKM TDEQEKGLSG APSPTMSEDS AGSPCPSGSG SDTENTRPQE NTFPKGEPDL
       61 KKESEEDKFP VCIREAVSQV LKGYDWTLVP MPVRVNGSSK NKPHVKRPMN AFMVWAQAAR
      121 RKLADQYPHL HNAELSKTLG KLWRLLNESE KRPFVEEAER LRVQHKKDHP DYKYQPRRRK
      181 SVKNGQAEAE EATEQTHISP NAIFKALQAD SPHSSSGMSE VHSPGEHSGQ SQGPPTPPTT
      241 PKTDVQPGKA DLKREGRPLP EGGRQPPIDF RDVDIGELSS DVISNIETFD VNEFDQYLPP
      301 NGHPGVPATH GQVTYTGSYG ISSTAATPAS AGHVWMSKQQ APPPPPQQPP QAPPAPQAPP
      361 QPQAAPPQQP AAPPQQPQAH TLTTLSSEPG QSQRTHIKTE QLSPSHYSEQ QQHSPQQIAY
      421 SPFNLPHYSP SYPPITRSQY DYTDHQNSSS YYSHAAGQGT GLYSTFTYMN PAQRPMYTPI
      481 ADTSGVPSIP QTHSPQHWEQ PVYTQLTRP
//