GenBank-Updates@genbank.bio.net (10/17/90)
LOCUS HUMCOLMUT 264 bp ds-DNA PRI 17-OCT-1990 DEFINITION Human alpha-1 collagen type III gene, exon 41 and an mutation causing Ehlers-Danlos syndrome type IV. 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., Janecko,R., Ramirez,F., Dahl,H.-H.M., Chan,D. and Bateman,J.F. TITLE A base substitution at a splice site 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. (1990) In press STANDARD full staff_entry FEATURES from to/span description pept < 1 / 61 alpha-1 collagen type III, exon 41 (AA at 2) IVS 62 > 264 alpha-1 collagen type III intron 41 mut 61 61 g in wt; a in Ehlers-Danlos syndrome type IV resulting in an exon/intron boundary read-through. 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 //