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
//