LOCUS       AF349571                 491 bp    mRNA    linear   HUM 17-APR-2001
DEFINITION  Homo sapiens hemoglobin alpha-1 globin chain (HBA1) mRNA, complete
            cds.
ACCESSION   AF349571
VERSION     AF349571.1
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 491)
  AUTHORS   Kutlar,F., Holley,L., Leithner,C. and Kutlar,A.
  TITLE     An alpha chain variant 'Hemoglobin J-Toronto (Cd.5 /Ala to Asp)'
            mutation was detected on the alpha-1 globin mRNA by sequencing of
            cDNA
  JOURNAL   Unpublished
REFERENCE   2  (bases 1 to 491)
  AUTHORS   Kutlar,F., Holley,L., Leithner,C. and Kutlar,A.
  TITLE     Direct Submission
  JOURNAL   Submitted (15-FEB-2001) Medicine/Hemoglobin DNA Laboratory, Medical
            College of Georgia, 15th Street, AC-1000, Augusta, GA 30912, USA
FEATURES             Location/Qualifiers
     source          1..491
                     /db_xref="H-InvDB:HIT000078193_02"
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16pter-p13.3"
                     /cell_type="reticulocytes"
                     /tissue_type="whole blood"
                     /note="obtained from a patient with abnormal hemoglobin"
     gene            1..491
                     /gene="HBA1"
     CDS             26..454
                     /gene="HBA1"
                     /codon_start=1
                     /product="hemoglobin alpha-1 globin chain"
                     /protein_id="AAK37554.1"
                     /translation="MVLSPDDKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYF
                     PHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLL
                     SHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR"
     variation       42
                     /gene="HBA1"
                     /note="heterozygous mutation; results in Asp to Ala
                     substitution"
                     /replace="c"
BASE COUNT           89 a          178 c          138 g           86 t
ORIGIN      
        1 cccacagact cagagagaac ccaccatggt gctgtctcct gacgacaaga ccaacgtcaa
       61 ggccgcctgg ggtaaggtcg gcgcgcacgc tggcgagtat ggtgcggagg ccctggagag
      121 gatgttcctg tccttcccca ccaccaagac ctacttcccg cacttcgacc tgagccacgg
      181 ctctgcccag gttaagggcc acggcaagaa ggtggccgac gcgctgacca acgccgtggc
      241 gcacgtggac gacatgccca acgcgctgtc cgccctgagc gacctgcacg cgcacaagct
      301 tcgggtggac ccggtcaact tcaagctcct aagccactgc ctgctggtga ccctggccgc
      361 ccacctcccc gccgagttca cccctgcggt gcacgcctcc ctggacaagt tcctggcttc
      421 tgtgagcacc gtgctgacct ccaaataccg ttaagctgga gcctcggtgg ccatgcttct
      481 tgcccctttg g
//