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 12:00:34 GMT Sender: root@genbank.bio.net Distribution: bionet Lines: 51 Approved: lear@genbank.bio.net Checksum: 44492 3 LOCUS HUMCFTRA03 454 bp ds-DNA PRI 14-MAY-1991 DEFINITION Human cystic fibrosis transmembrane conductance regulator (CFTR) gene, exon 3. ACCESSION M55108 M55504 M55505 KEYWORDS cystic fibrosis transmembrane conductance regulator. SEGMENT 3 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 454) 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(M55107:362..>630,<1..184) /number=2 /note="gap of unknown legnth" /gene="CFTR gene" exon 185..293 /number=3 /gene="CFTR gene" variation 244..244 /note="replace (244, 'a')" /label=R75Q /citation=Genomics 10, 229-235 (1991) mutation 274..274 /note="replace (274, 'a')" /label=G85E /citation=Genomics 10, 229-235 (1991) BASE COUNT 145 a 68 c 87 g 154 t ORIGIN Map position 7q31-q32. 1 aggaatctgc cagatatctg gctgagtgtt tggtgttgta tggtctccat gagattttgt 61 ctctataata cttgggttaa tctccttgga tatacttgtg tgaatcaaac tatgttaagg 121 gaaataggac aactaaaata tttgcacatg caacttattg gtcccacttt ttattctttt 181 gcagagaatg ggatagagag ctggcttcaa agaaaaatcc taaactcatt aatgcccttc 241 ggcgatgttt tttctggaga tttatgttct atggaatctt tttatattta ggggtaagga 301 tctcatttgt acattcatta tgtatcacat aactatatgc atttttgtga ttatgaaaag 361 actacgaaat ctggtgaata ggtgtaaaaa tataaaggat gaatccaact ccaaacacta 421 agaaaccacc taaaactcta gtaaggataa gtaa //