LOCUS       AF035328                 307 bp    mRNA    linear   HUM 06-APR-2002
DEFINITION  Homo sapiens clone E21ACOR ATM (ATM) mRNA, partial cds.
ACCESSION   AF035328
VERSION     AF035328.1
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 307)
  AUTHORS   Garcia-Perez,M.A., Allende,L.M., Corell,A., Varela,P., Moreno,A.A.,
            Sotoca,A., Moreno,A., Paz-Artal,E., Barreiro,E. and
            Arnaiz-Villena,A.
  TITLE     Novel mutations and defective protein kinase C activation of
            T-lymphocytes in ataxia telangiectasia
  JOURNAL   Clin. Exp. Immunol. 123 (3), 472-480 (2001)
   PUBMED   11298136
REFERENCE   2  (bases 1 to 307)
  AUTHORS   Arnaiz-Villena,A.
  TITLE     Direct Submission
  JOURNAL   Submitted (18-NOV-1997) Immunology, Hospital 12 de Octubre, Ctra.
            Andalucia, Madrid 28041, Spain
FEATURES             Location/Qualifiers
     source          1..307
                     /db_xref="H-InvDB:HIT000063259"
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /isolate="BB"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q22-q23"
                     /clone="E21ACOR"
                     /sex="male"
                     /cell_type="lymphocyte"
                     /tissue_type="blood"
                     /dev_stage="infant"
     gene            1..307
                     /gene="ATM"
                     /note="ataxia telangiectasia mutated"
     CDS             <1..152
                     /gene="ATM"
                     /note="exon 21 mutation"
                     /codon_start=3
                     /product="ATM"
                     /protein_id="AAM09295.1"
                     /translation="GAINPLAEEYLSKQDLLFLDMLKFLVFVCNYCSRPILCPLGQLI
                     FGGNC"
BASE COUNT           86 a           63 c           57 g          101 t
ORIGIN      
        1 taggtgccat taatccttta gctgaagaat atctgtcaaa gcaagatcta cttttcttag
       61 acatgctcaa gttccttgtg tttgtgtgta actactgctc cagaccaata ctgtgtcctt
      121 tagggcagct gatattcgga ggaaattgtt aatgttaatt gattctagca cgctagaacc
      181 taccaaatcc ctccacctgc atatgcaatg tgtgttcttt gtatcgtcgt gaccaagatg
      241 tttgtaaaac tattttaaac catgtccttc atgtagtgaa aaacctaggt caaagcaata
      301 tggactc
//