Path: utzoo!utgpu!watserv1!watmath!uunet!bionet!root From: GenBank-Updates@genbank.bio.net Newsgroups: bionet.molbio.genbank.updates Subject: Human cystic fibrosis transmembrane conductance regulator (CFTR) Message-ID: Date: 16 Jan 91 13:04:22 GMT Sender: root@genbank.bio.net Distribution: bionet Lines: 34 Approved: lear@genbank.bio.net Checksum: 33947 2 LOCUS HUMCFTR8 249 bp ds-DNA PRI 16-JAN-1991 DEFINITION Human cystic fibrosis transmembrane conductance regulator (CFTR) gene, exon 19. ACCESSION M55032 KEYWORDS cystic fibrosis; transmembrane conductance regulator. SOURCE Human DNA. ORGANISM Homo sapiens Eukaryota; Animalia; Metazoa; Chordata; Vertebrata; Mammalia; Theria; Eutheria; Primates; Haplorhini; Catarrhini; Hominidae. REFERENCE 1 (bases 1 to 249) AUTHORS Kerem,B.-S., Zielenski,J., Markiewicz,D., Bozon,D., Gazit,E., Yahav,J., Kennedy,D., Riordan,J.R., Collins,F.S., Rommens,J.M. and Tsui,L.-C. TITLE Identification of mutations in regions corresponding to the two putative nucleotide (ATP)-binding folds of the cystic fibrosis gene JOURNAL Proc. Natl. Acad. Sci. U.S.A. 87, 8447-8451 (1990) STANDARD simple staff_review FEATURES Location/Qualifiers exon 1..249 /number=19 /gene="CFTR gene" /codon_start=1 mutation 58..59 /note="replace(58.59,'acc')" /gene="CFTR gene" /label=3659d BASE COUNT 88 a 54 c 53 g 54 t ORIGIN Chromosome 7q31-q32. 1 gatgcgatct gtgagccgag tctttaagtt cattgacatg ccaacagaag gtaaacctac 61 aagtcaacca aaccatacaa gaatggccaa ctctcgaaag ttatgattat tgagaattca 121 cacgtgaaga aagatgacat ctggccctca gggggccaaa tgactgtcaa agatctcaca 181 gcaaaataca cagaaggtgg aaatgccata ttagagaaca tttccttctc aataagtcct 241 ggccagagg //