GenBank-Updates@genbank.bio.net (01/12/91)
LOCUS HUMCOLMUT 264 bp ds-DNA PRI 12-JAN-1991 DEFINITION Human alpha-1 collagen type III gene, exon 41 and a Ehlers-Danlos syndrome type IV mutation. ACCESSION M55603 KEYWORDS alpha-1 type 3 collagen. SOURCE Human DNA and 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 full 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="g in wild-type; a in Ehler-Danlos mutant" 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 //