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
//