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M.J.S., Catovsky D. TITLE Abnormalities of the Ataxia Telangiectasia (ATM) gene in a sporadic T-cell leukemia JOURNAL Unpublished.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 //