GenBank-Updates@genbank.bio.net (01/17/91)
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 //
GenBank-Updates@genbank.bio.net (01/17/91)
LOCUS HUMCOLDEL 465 bp ss-mRNA PRI 17-JAN-1991 DEFINITION Human alpha-1 collagen type III (COL3A1) mRNA, partial cds. ACCESSION M59227 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 465) 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 CDS <1..>465 /gene="COL3A1" /product="alpha-1 type III collagen" mutation 243..352 /note="replace(243.352,'ag')" /type="Ehlers-Danlos syndrome type IV" /gene="COL3A1" BASE COUNT 87 a 130 c 161 g 87 t ORIGIN 1 ggtgaacgtg gcagtcctgg tggacctggt gctgctggct tccctggtgc tcgtggtctt 61 cctggtcctc ctggtagtaa tggtaaccca ggacccccag gtcccagcgg ttctccaggc 121 aaggatgggc ccccaggtcc tgcgggtaac actggtgctc ctggcagccc tggagtgtct 181 ggaccaaaag gtgatgctgg ccaaccagga gagaagggat cgcctggtgc ccagggccca 241 ccaggagctc caggcccact tgggattgct gggatcactg gagcacgggg tcttgcagga 301 ccaccaggca tgccaggtcc taggggaagc cctggccctc agggtgtcaa gggtgaaagt 361 gggaaaccag gagctaacgg tctcagtgga gaacgtggtc cccctggacc ccagggtctt 421 cctggtctgg ctggtacagc tggtgaacct ggaagagatg gaaac //