Path: utzoo!utgpu!watserv1!watmath!att!emory!wuarchive!bcm!bionet!root From: GenBank-Updates@genbank.bio.net Newsgroups: bionet.molbio.genbank.updates Subject: Human alpha-1 collagen type III (COL3A1) gene, exon 41. Message-ID: Date: 17 Jan 91 13:01:28 GMT Sender: root@genbank.bio.net Distribution: bionet Lines: 35 Approved: lear@genbank.bio.net Checksum: 20366 2 LOCUS HUMCOLMUT 264 bp ds-DNA PRI 17-JAN-1991 DEFINITION Human alpha-1 collagen type III (COL3A1) gene, exon 41. ACCESSION M55603 J05617 KEYWORDS alpha-1 type III collagen. SOURCE Human fibroblast DNA from a patient with Ehlers-Danlos syndrome type IV. ORGANISM Homo sapiens Eukaryota; Animalia; Metazoa; Chordata; Vertebrata; Mammalia; Theria; Eutheria; Primates; Haplorhini; Catarrhini; Hominidae. REFERENCE 1 (bases 1 to 264) AUTHORS Cole,W.G., Chiodo,A.A., Lamande,S.R., Janeczko,R., Ramirez,F., Dahl,H.-H.M., Chan,D. and Bateman,J.F. TITLE A base substitution at a splice in the COL3A1 gene causes exon skipping and generates abnormal type III procollagen in a patient with ehlers-danlos syndrome type IV JOURNAL J. Biol. Chem. 265, 17070-17077 (1990) STANDARD simple staff_entry FEATURES Location/Qualifiers exon <1..61 /number=41 /gene="COL3A1" /codon_start=2 /product="alpha-1 type 3 collagen" mutation 62..62 /note="replace(62.62,'a')" /type="Ehlers-Danlos syndrome type IV" /gene="COL3A1" BASE COUNT 79 a 54 c 51 g 80 t ORIGIN 1 tcttgcagga ccaccaggca tgccaggtcc taggggaagc cctggccctc agggtgtcaa 61 ggtgagtata gtcattttcc actacactct tccttccttt ggtagccttc agagatcact 121 taaccatatc aaggatgaaa agtttttctg tcactggagt aaattagcca ggagataatt 181 tttttttatt tttagatttt taaaagcata aattttaata aatggctcca gaacacaaaa 241 cagggcatat catagacaaa cttg //