LOCUS HUMP53MUT 72 bp mRNA linear HUM 27-APR-1993 DEFINITION Human p53 protein intronic point mutation at the splice donor site at the 3' end of exon 7. resulting in the retention of intron 7 sequence in H647 mRNA. ACCESSION M55576 VERSION M55576.1 KEYWORDS p53 gene. 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 72) AUTHORS Takahashi,T., D'Amico,D., Chiba,I., Buchhagen,D.L. and Minna,J.D. TITLE Identification of intronic point mutations as an alternative mechanism for p53 inactivation in lung cancer JOURNAL J. Clin. Invest. 86 (1), 363-369 (1990) PUBMED 2164047 COMMENT Original source text: Human lung cancer cell line H647, cDNA to mRNA. FEATURES Location/Qualifiers source 1..72 /db_xref="H-InvDB:HIT000195796" /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /cell_line="H647" /tissue_type="adenosquamous cell lung cancer" gene 1..72 /gene="p23" exon 1..5 /gene="p23" variation 6 /gene="p23" /note="g in wt; t in cancer cell line H647 causing a readthrough of the exon/intron boundary at exon 7/intron 7 and ending at a premature stop codon at position 69." BASE COUNT 9 a 33 c 15 g 15 t ORIGIN 1 tccaggtcag gagccacttg ccaccctgca cactggcctg ctgtgcccca ccctctgctt 61 gccctctgac cc //