Path: utzoo!utgpu!news-server.csri.toronto.edu!rpi!zaphod.mps.ohio-state.edu!sdd.hp.com!news.cs.indiana.edu!bionet!root From: GenBank-Updates@genbank.bio.net Newsgroups: bionet.molbio.genbank.updates Subject: Human cystic fibrosis transmembrane conductance regulator (CFTR) Message-ID: Date: 14 May 91 12:00:38 GMT Sender: root@genbank.bio.net Distribution: bionet Lines: 53 Approved: lear@genbank.bio.net Checksum: 06255 3 LOCUS HUMCFTRA05 600 bp ds-DNA PRI 14-MAY-1991 DEFINITION Human cystic fibrosis transmembrane conductance regulator (CFTR) gene, exon 5. ACCESSION M55110 M55502 M55503 KEYWORDS cystic fibrosis transmembrane conductance regulator. SEGMENT 5 of 26 SOURCE Human DNA. ORGANISM Homo sapiens Eukaryota; Animalia; Metazoa; Chordata; Vertebrata; Mammalia; Theria; Eutheria; Primates; Haplorhini; Catarrhini; Hominidae. REFERENCE 1 (bases 1 to 600) AUTHORS Zielenski,J., Rozmahel,R., Bozon,D., Kerem,B.-S., Grzelczak,Z., Riordan,J.R., Rommens,J.M. and Tsui,L.-C. TITLE Genomic DNA sequence of the cystic fibrosis transmembrane conductance regulator (CFTR) gene JOURNAL Genomics 10, 214-228 (1991) STANDARD full staff_entry REFERENCE 2 (sites) AUTHORS Zielenski,J., Bozon,D., Kerem,B.-S., Markiewicz,D., Durie,P., Rommens,J.M. and Tsui,L.-C. TITLE Identification of mutations in exons 1 through 8 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene JOURNAL Genomics 10, 229-235 (1991) STANDARD full staff_review FEATURES Location/Qualifiers intron order(M55109:469..>674,<1..242) /number=4 /note="gap of unknown legnth" /gene="CFTR gene" exon 243..332 /number=5 /gene="CFTR gene" mutation 285..285 /note="replace (285, 'a')" /label=G178R /citation=Genomics 10, 229-235 (1991) mutation 333..333 /note="replace (333, 't')" /label=711+1G-T /citation=Genomics 10, 229-235 (1991) BASE COUNT 197 a 94 c 95 g 214 t ORIGIN Map position q31-q32. 1 taattatttc tgcctagatg ctgggaaata aaacaactag aagcatgcca gtataatatt 61 gactgttgaa agaaacattt atgaacctga gaagatagta agctagatga atagaatata 121 attttcatta cctttactta ataatgaatg cataataact gaattagtca tattataatt 181 ttacttataa tatatttgta ttttgtttgt tgaaattatc taactttcca tttttctttt 241 agactttaaa gctgtcaagc cgtgttctag ataaaataag tattggacaa cttgttagtc 301 tcctttccaa caacctgaac aaatttgatg aagtatgtac ctattgattt aatcttttag 361 gcactattgt tataaattat acaactggaa aggcggagtt ttcctgggtc agataatagt 421 aattagtggt taagtcttgc tcagctctag cttccctatt ctggaaacta agaaaggtca 481 attgtatagc agagcaccat tctggggtct ggtagaacca cccaactcaa aggcacctta 541 gcctgttgtt aataagattt ttcaaaactt aattcttatc agaccttgct tcttttaaac //