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 12:00:36 GMT Sender: root@genbank.bio.net Distribution: bionet Lines: 55 Approved: lear@genbank.bio.net Checksum: 42629 3 LOCUS HUMCFTRA04 674 bp ds-DNA PRI 14-MAY-1991 DEFINITION Human cystic fibrosis transmembrane conductance regulator (CFTR) gene, exon 4. ACCESSION M55109 M55500 M55501 KEYWORDS cystic fibrosis transmembrane conductance regulator. SEGMENT 4 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 674) 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(M55108:294..>454,<1..252) /number=3 /note="gap of unknown legnth" /gene="CFTR gene" exon 253..468 /number=4 /gene="CFTR gene" mutation 403..403 /note="replace (403, ' ')" /label=556delA /citation=Genomics 10, 229-235 (1991) mutation 469..469 /note="replace (469, 't')" /label=621+1G-T /citation=Genomics 10, 229-235 (1991) BASE COUNT 212 a 122 c 111 g 229 t ORIGIN Map position q31-q32. 1 ccactattca ctgtttaact taaaatacct catatgtaaa cttgtctccc actgttgcta 61 taacaaatcc caagtcttat ttcaaagtac caagatattg aaaatagtgc taagagtttc 121 acatatggta tgaccctcta tataaactca ttttaagtct cctctaaaga tgaaaagtct 181 tgtgttgaaa ttctcagggt attttatgag aaataaatga aatttaattt ctctgttttt 241 ccccttttgt aggaagtcac caaagcagta cagcctctct tactgggaag aatcatagct 301 tcctatgacc cggataacaa ggaggaacgc tctatcgcga tttatctagg cataggctta 361 tgccttctct ttattgtgag gacactgctc ctacacccag ccatttttgg ccttcatcac 421 attggaatgc agatgagaat agctatgttt agtttgattt ataagaaggt aatacttcct 481 tgcacaggcc ccatggcaca tatattctgt atcgtacatg ttttaatgtc ataaattagg 541 tagtgagctg gtacaagtaa gggataaatg ctgaaattaa tttaatatgc ctattaaata 601 aatggcagga ataattaatg ctcttaatta tccttgataa tttaattgac ttaaactgat 661 aattattgag tatc //