LOCUS       AF083883                1466 bp    DNA     linear   PRI 30-JAN-2002
DEFINITION  Homo sapiens mutant beta-globin (HBB) gene, complete cds.
ACCESSION   AF083883
VERSION     AF083883.1  GI:18418632
KEYWORDS    .
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Catarrhini;
            Hominidae; Homo.
REFERENCE   1  (bases 1 to 1466)
  AUTHORS   Cabeda,J.M., Correia,C., Estevinho,A., Cardoso,C., Amorim,M.L.,
            Cleto,E., Vale,L., Coimbra,E., Pinho,L. and Justica,B.
  TITLE     Unexpected patterns of globin mutations in thalassemia patients
            from north of Portugal
  JOURNAL   Unpublished
REFERENCE   2  (bases 1 to 1466)
  AUTHORS   Cabeda,J.M., Correia,C., Estevinho,A., Cardoso,C., Amorim,M.L.,
            Cleto,E., Vale,L., Coimbra,E., Pinho,L. and Justica,B.
  TITLE     Direct Submission
  JOURNAL   Submitted (13-AUG-1998) Clinical Haematology, Hospital Geral de
            Sto. Antonio, R. D. Manuel II (ex cicap) 4150 Porto, Portugal
FEATURES             Location/Qualifiers
     source          1..1466
                     /organism="Homo sapiens"
                     /mol_type="genomic DNA"
                     /db_xref="taxon:9606"
     gene            <1..>1450
                     /gene="HBB"
     mRNA            join(<1..118,249..471,1322..>1450)
                     /gene="HBB"
                     /product="mutant beta-globin"
     CDS             join(27..118,249..471,1322..1450)
                     /gene="HBB"
                     /note="CD113t-C"
                     /codon_start=1
                     /product="mutant beta-globin"
                     /protein_id="AAL68978.1"
                     /db_xref="GI:18418633"
                     /translation="MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFE
                     SFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPE
                     NFRLLGNVLVRVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH"
     variation       1343
                     /gene="HBB"
                     /note="difference from wild type"
                     /phenotype="unstable hemoglobin sindrome"
                     /replace="t"
ORIGIN      
        1 ttcactagca acctcaaaca gacaccatgg tgcacctgac tcctgaggag aagtctgccg
       61 ttactgccct gtggggcaag gtgaacgtgg atgaagttgg tggtgaggcc ctgggcaggt
      121 tggtatcaag gttacaagac aggtttaagg agaccaatag aaactgggca tgtggagaca
      181 gagaagactc ttgggtttct gataggcact gactctctct gcctattggt ctattttccc
      241 acccttaggc tgctggtggt ctacccttgg acccagaggt tctttgagtc ctttggggat
      301 ctgtccactc ctgatgctgt tatgggcaac cctaaggtga aggctcatgg caagaaagtg
      361 ctcggtgcct ttagtgatgg cctggctcac ctggacaacc tcaagggcac ctttgccaca
      421 ctgagtgagc tgcactgtga caagctgcac gtggatcctg agaacttcag ggtgagtcta
      481 tgggaccctt gatgttttct ttccccttct tttctatggt taagttcatg tcataggaag
      541 gggagaagta acagggtaca gtttagaatg ggaaacagac gaatgattgc atcagtgtgg
      601 aagtctcagg atcgttttag tttcttttat ttgctgttca taacaattgt tttcttttgt
      661 ttaattcttg ctttcttttt ttttcttctc cgcaattttt actattatac ttaatgcctt
      721 aacattgtgt ataacaaaag gaaatatctc tgagatacat taagtaactt aaaaaaaaac
      781 tttacacagt ctgcctagta cattactatt tggaatatat gtgtgcttat ttgcatattc
      841 ataatctccc tactttattt tcttttattt ttaattgata cataatcatt atacatattt
      901 atgggttaaa gtgtaatgtt ttaatatgtg tacacatatt gaccaaatca gggtaatttt
      961 gcatttgtaa ttttaaaaaa tgctttcttc ttttaatata cttttttgtt tatcttattt
     1021 ctaatacttt ccctaatctc tttctttcag ggcaataatg atacaatgta tcatgcctct
     1081 ttgcaccatt ctaaagaata acagtgataa tttctgggtt aaggcaatag caatatttct
     1141 gcatataaat atttctgcat ataaattgta actgatgtaa gaggtttcat attgctaata
     1201 gcagctacaa tccagctacc attctgcttt tattttatgg ttgggataag gctggattat
     1261 tctgagtcca agctaggccc ttttgctaat catgttcata cctcttatct tcctcccaca
     1321 gctcctgggc aacgtgctgg tccgtgtgct ggcccatcac tttggcaaag aattcacccc
     1381 accagtgcag gctgcctatc agaaagtggt ggctggtgtg gctaatgccc tggcccacaa
     1441 gtatcactaa gctcgctttc ttgctg
//