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 12:00:30 GMT Sender: root@genbank.bio.net Distribution: bionet Lines: 62 Approved: lear@genbank.bio.net Checksum: 05814 4 LOCUS HUMCFTRA01 1577 bp ds-DNA PRI 14-MAY-1991 DEFINITION Human cystic fibrosis transmembrane conductance regulator (CFTR) gene, exon 1. ACCESSION M55106 M55499 KEYWORDS cystic fibrosis transmembrane conductance regulator. SEGMENT 1 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 1577) 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 exon <829..881 /number=1 /gene="CFTR gene" mutation 825..825 /note="replace (825, 'c')" /label=129 /citation=Genomics 10, 229-235 (1991) BASE COUNT 449 a 303 c 461 g 364 t ORIGIN Map position 7q31-q32. 1 ccacccttgg agttcactca cctaaacctc aaactaataa agcttggttc ttttctccga 61 cacgcaaagg aagcgctaag gtaaatgcat cagacccaca ctgccgcgga acttttcggc 121 tctctaaggc tgtattttga tatacgaaag gcacattttc cttccctttt caaaatgcac 181 cttgcaaacg taacagggac ccgactagga tcatcgggaa aaggaggagg aggaggaagg 241 caggctccgg ggaagctggt ggcagcgggt cctgggtctg gcggaccctg acgcgaagga 301 gggtctagga agctctccgg ggagccgttc tcccgccggt ggcttcttct gtcctccagc 361 gttgccaact ggacctaaag agaggccgcg actgtcgccc acctgcggga tgggcctggt 421 gctgggcggt aaggacacgg acctggaagg agcgcgcgcg agggagggag gctgggagtc 481 agaatcggga aagggaggtg cggggcggcg agggagcgaa ggaggagagg aggaaggagc 541 gggaggggtg ctggcggggg tgcgtagtgg gtggagaaag ccgctagagc aaatttgggg 601 ccggaccagg cagcactcgg cttttaacct gggcagtgaa ggcgggggaa agagcaaaag 661 gaaggggtgg tgtgcggagt aggggtgggt ggggggaatt ggaagccaaa tgacatcaca 721 gcaggtcaga gaaaaagggt tgagcggcag gcacccagag tagtaggtct ttggcattag 781 gagcttgagc ccagacggcc ctagcaggga ccccagcgcc cagagaccat gcagaggtcg 841 cctctggaaa aggccagcgt tgtctccaaa ctttttttca ggtgagaagg tggccaaccg 901 agcttcggaa agacacgtgc ccacgaaaga ggagggcgtg tgtatgggtt gggtttgggg 961 taaaggaata agcagttttt aaaaagatgc gctatcattc attgttttga aagaaaatgt 1021 gggtattgta gaataaaaca gaaagcatta agaagagatg gaagaatgaa ctgaagctga 1081 ttgaatagag agccacatct acttgcaact gaaaagttag aatctcaaga ctcaagtacg 1141 ctactatgca cttgttttat ttcatttttc taagaaacta aaaatacttg ttaataagta 1201 cctagtatgg tttattggtt ttcccccttc atgccttgga cacttgattg tcttcttggc 1261 acatacaggt gccatgcctg catatagtaa gtgctcagaa aacatttctt gactgaattc 1321 agccaacaaa aattttgggg taggtagaaa atatatgctt aaagtattta ttgttatgag 1381 actggatata tctagtattt gtcacaggta aatgattctt caaaaattga aagcaaattt 1441 gttgaaatat ttattttgaa aaaagttact tcacaagcta taaattttaa aagccatagg 1501 aatagatacc gaagttatat ccaactgaca tttaataaat tgtattcata gcctaatgtg 1561 atgagccaca gaagctt //