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 S74504.1,
S74505.1, S74506.1, AH004669.1.
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
//