LOCUS       Y08455                   502 bp    mRNA    linear   HUM 10-JUN-1998
DEFINITION  H.sapiens mRNA for ataxia telangiectasia protein, exon skipped
            allele.
ACCESSION   Y08455
VERSION     Y08455.1
KEYWORDS    ataxia-telangiectasia gene; ATM gene; deletion; frameshifting.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1
  AUTHORS   Yuille M.A.R., Abraham S.M., Coignet L.J.A., Lakin N.D., Yaqub F.,
            Matutes E., Brito-Babapulle V., Jackson S.P., Dyer M.J.S.,
            Catovsky D.
  TITLE     Abnormalities of the Ataxia Telangiectasia (ATM) gene in a sporadic
            T-cell leukemia
  JOURNAL   Unpublished.
REFERENCE   2  (bases 1 to 502)
  AUTHORS   Yuille M.A.R.
  JOURNAL   Submitted (27-SEP-1996) to the INSDC. M.A.R. Yuille, Institute of
            Cancer Research, Haematology and Cytogenetics, 15 Cotswold Road,
            Sutton, Surrey SM2 5NG, UK
COMMENT     Related sequence U55736
FEATURES             Location/Qualifiers
     source          1..502
                     /db_xref="H-InvDB:HIT000325455"
                     /organism="Homo sapiens"
                     /chromosome="11"
                     /map="q22-3"
                     /isolate="Patient 8"
                     /mol_type="mRNA"
                     /cell_type="T-prolymphocytic leukemia PBMNC"
                     /rearranged
                     /db_xref="taxon:9606"
     CDS             join(<1..186,186..>502)
                     /codon_start=3
                     /gene="ATM"
                     /product="ataxia-telangiectasia protein (PI-3-kinase
                     homologue)"
                     /note="frameshift due to exon-skipping"
                     /db_xref="H-InvDB:HIT000325455.13"
                     /protein_id="CAA69711.1"
                     /translation="CEVKTDFCQTVLPYLIHDILLQDTNESWRNLLSTHVQGFFTSCL
                     RHFSQTSRSTTPANLDSGPSSGTIFNDAFWLDLNYLEVAKVAQSCAAHFTALLYAEIY
                     ADKKSMDDQEKRSLAFEEGSQSTTISSLSEKSKEETGISLQDLLLEIYRSIGEPDSLY
                     GCGGGKM"
     variation       186^187
                     /note="88bp deletion relative to wildtype that corresponds
                     to exon 12"
BASE COUNT          159 a           88 c          107 g          148 t
ORIGIN      
        1 tgtgtgaagt gaaaactgac ttttgtcaga ctgtacttcc atacttgatt catgatattt
       61 tactccaaga tacaaatgaa tcatggagaa atctgctttc tacacatgtt cagggatttt
      121 tcaccagctg tcttcgacac ttctcgcaaa cgagccgatc cacaacccct gcaaacttgg
      181 attcagacct tcttcaggaa caatttttaa tgatgctttc tggctggatt taaattatct
      241 agaagttgcc aaggtagctc agtcttgtgc tgctcacttt acagctttac tctatgcaga
      301 aatctatgca gataagaaaa gtatggatga tcaagagaaa agaagtcttg catttgaaga
      361 aggaagccag agtacaacta tttctagctt gagtgaaaaa agtaaagaag aaactggaat
      421 aagtttacag gatcttctct tagaaatcta cagaagtata ggggagccag atagtttgta
      481 tggctgtggt ggagggaaga tg
//