LOCUS       AY039664                1018 bp    mRNA    linear   HUM 17-JUL-2001
DEFINITION  Homo sapiens mutant CD8 alpha antigen (CD8A) mRNA, complete cds.
ACCESSION   AY039664
VERSION     AY039664.1
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 1018)
  AUTHORS   de la Calle-Martin,O., Hernandez,M., Ordi,J., Casamitjana,N.,
            Arostegui,J.I., Caragol,I., Ferrando,M., Labrador,M.,
            Rodriguez-Sanchez,J.L. and Espanol,T.
  TITLE     Familial CD8 deficiency due to a mutation in the CD8 alpha gene
  JOURNAL   J. Clin. Invest. 108 (1), 117-123 (2001)
   PUBMED   11435463
REFERENCE   2  (bases 1 to 1018)
  AUTHORS   Casamitjana,N., Arostegui,J.I. and de la Calle,O.
  TITLE     Direct Submission
  JOURNAL   Submitted (12-JUN-2001) Immunohematology, Centre de Transfusio i
            Banc de Teixits, Pg. de la Vall d'Hebron 119-129, Barcelona 08035,
            Spain
FEATURES             Location/Qualifiers
     source          1..1018
                     /db_xref="H-InvDB:HIT000083591"
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
     gene            1..1018
                     /gene="CD8A"
     CDS             180..887
                     /gene="CD8A"
                     /codon_start=1
                     /product="mutant CD8 alpha antigen"
                     /protein_id="AAK72403.1"
                     /translation="MALPVTALLLPLALLLHAARPSQFRVSPLDRTWNLGETVELKCQ
                     VLLSNPTSGCSWLFQPRGAAASPTFLLYLSQNKPKAAEGLDTQRFSGKRLGDTFVLTL
                     SDFRRENESYYFCSALSNSIMYFSHFVPVFLPAKPTTTPAPRPPTPAPTIASQPLSLR
                     PEACRPAAGGAVHTRGLDFACDIYIWAPLAGTCGVLLLSLVITLYCNHRNRRRVCKCP
                     RPVVKSGDKPSLSARYV"
     variation       510
                     /gene="CD8A"
                     /note="results in Gly to Ser substitution"
                     /replace="g"
BASE COUNT          173 a          359 c          284 g          202 t
ORIGIN      
        1 cgaaaaggag ggtgactctc ctcggcgggg gcttcgggtg acatcacatc ctccaaatgc
       61 gaaatcaggc tccgggccgg ccgaagggcg caactttccc ccctcggcgc cccaccggct
      121 cccgcgcgcc tcccctcgcg cccgagcttc gagccaagca gcgtcctggg gagcgcgtca
      181 tggccttacc agtgaccgcc ttgctcctgc cgctggcctt gctgctccac gccgccaggc
      241 cgagccagtt ccgggtgtcg ccgctggatc ggacctggaa cctgggcgag acagtggagc
      301 tgaagtgcca ggtgctgctg tccaacccga cgtcgggctg ctcgtggctc ttccagccgc
      361 gcggcgccgc cgccagtccc accttcctcc tatacctctc ccaaaacaag cccaaggcgg
      421 ccgaggggct ggacacccag cggttctcgg gcaagaggtt gggggacacc ttcgtcctca
      481 ccctgagcga cttccgccga gagaacgaga gctactattt ctgctcggcc ctgagcaact
      541 ccatcatgta cttcagccac ttcgtgccgg tcttcctgcc agcgaagccc accacgacgc
      601 cagcgccgcg accaccaaca ccggcgccca ccatcgcgtc gcagcccctg tccctgcgcc
      661 cagaggcgtg ccggccagcg gcggggggcg cagtgcacac gagggggctg gacttcgcct
      721 gtgatatcta catctgggcg cccctggccg ggacttgtgg ggtccttctc ctgtcactgg
      781 ttatcaccct ttactgcaac cacaggaacc gaagacgtgt ttgcaaatgt ccccggcctg
      841 tggtcaaatc gggagacaag cccagccttt cggcgagata cgtctaaccc tgtgcaacag
      901 ccactacatt acttcaaact gagatccttc cttttgaggg agcaagtcct tccctttcat
      961 tttttccagt cttcctccct gtgtattcat tctcatgatt attattttag tgggggcg
//