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 13:04:28 GMT Sender: root@genbank.bio.net Distribution: bionet Lines: 33 Approved: lear@genbank.bio.net Checksum: 38521 2 LOCUS HUMCFTR11 206 bp ds-DNA PRI 16-JAN-1991 DEFINITION Human cystic fibrosis transmembrane conductance regulator (CFTR) gene, exon 10. ACCESSION M55035 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 206) 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 8..199 /number=10 /gene="CFTR gene" /codon_start=8 mutation 92..92 /note="replace(92,'t')" /gene="CFTR gene" /label=Q493X BASE COUNT 67 a 34 c 43 g 62 t ORIGIN Chromosome 7q31-q32. 1 tttccagact tcacttctaa tgatgattat gggagaactg gagccttcag agggtaaaat 61 taagcacagt ggaagaattt cattctgttc ttagttttcc tggattatgc ctggcaccat 121 taaagaaaat atcatctttg gtgtttccta tgatgaatat agatacagaa gcgtcatcaa 181 agcatgccaa ctagaagagg taagaa //