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
//