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 //