LOCUS       AF035326                 260 bp    mRNA    linear   HUM 26-JUL-2016
DEFINITION  Homo sapiens clone E15ACOR ATM (ATM) mRNA, partial cds.
ACCESSION   AF035326
VERSION     AF035326.1
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 260)
  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 260)
  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..260
                     /db_xref="H-InvDB:HIT000063257"
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /isolate="BB"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q22-q23"
                     /clone="E15ACOR"
                     /sex="male"
                     /cell_type="lymphocyte"
                     /tissue_type="blood"
                     /dev_stage="infant"
     gene            <1..>260
                     /gene="ATM"
                     /note="ataxia telangiectasia mutated"
     CDS             <1..>260
                     /gene="ATM"
                     /note="exon 15 mutation; alternatively spliced variant 1"
                     /codon_start=1
                     /product="ATM"
                     /protein_id="AAM09293.1"
                     /translation="FPHLVLEKILVSLTMKNCKAAMNFFPKRARMIKQELSFSEVEEL
                     FLQTTFDKMDFLTIVRECGIEKHQSSIGFSVHQNLKESLDRCL"
BASE COUNT           82 a           51 c           49 g           78 t
ORIGIN      
        1 tttcctcatc ttgtactgga gaaaattctt gtgagtctca ctatgaaaaa ctgtaaagct
       61 gcaatgaatt ttttcccaaa gcgtgccaga atgataaagc aagaactttc attctcagaa
      121 gtagaagaac tatttcttca gacaactttt gacaagatgg actttttaac cattgtgaga
      181 gaatgtggta tagaaaagca ccagtccagt attggcttct ctgtccacca gaatctcaag
      241 gaatcactgg atcgctgtct
//