GenBank-Updates@genbank.bio.net (04/23/91)
LOCUS HUMCOL1A2A 1304 bp ds-DNA PRI 23-APR-1991
DEFINITION Human type I collagen (COL1A2) gene, partial cds.
ACCESSION M64229
KEYWORDS alpha-2(I) collagen; type I collagen.
SOURCE Human (patient UTH) skin fibroblast cell line UTH DNA.
ORGANISM Homo sapiens
Eukaryota; Animalia; Metazoa; Chordata; Vertebrata; Mammalia;
Theria; Eutheria; Primates; Haplorhini; Catarrhini; Hominidae.
REFERENCE 1 (sites)
AUTHORS Kuivaniemi,H., Tromp,G., Chu,M.-L. and Prockop,D.J.
TITLE Structure of a full-length cDNA clone for the prepro-alpha-2 (I)
chain of human type I procollagen. Comparison with the chicken gene
confirms unusual patterns of gene conservation
JOURNAL Biochem. J. 252, 633-640 (1988)
STANDARD full staff_review
REFERENCE 2 (bases 1 to 1304)
AUTHORS Ganguly,A., Baldwin,C., Strobel,D., Conway,D., Horton,W. and
Prockop,D.
TITLE Heterozygous mutation in the G+5 position of intron 33 of the pro
alpha 2(I) gene (COL1A2) that causes aberrant RNA splicing and
lethal osteogenesis imperfecta
JOURNAL J. Biol. Chem. (1991) In press
STANDARD full staff_entry
FEATURES Location/Qualifiers
CDS join(258..341,1275..>1304)
/product="type I collagen"
/gene="COL1A2"
/codon_start=258
/partial
exon 258..341
/number=33
/gene="COL1A2"
exon 1275..>1304
/number=34
/gene="COL1A2"
BASE COUNT 413 a 241 c 224 g 426 t
ORIGIN
1 ttctgtccac atgaatctgt accttgcttg attatgcttc aggagagtgt acggaaatta
61 gaaaagattg tttaacaata atctggaaat ggccttgaat tattttttcc tcattatttt
121 tctcgattaa cattctacag aatggtaagg aatcgagaca ttgctaaaaa tcttaaatga
181 ctgaaggtat catagcatct tctgtaaaaa agaaaaaaac ttcatattaa tttcgattca
241 aaattttggt cagaaaacaa aaagttgctc ttgctttata ctttcagggt gaacctggtc
301 tcagaggtga aattggtaac cctggcagag atggtgctcg tgtgagtaga attttgtttg
361 tatgtttctt cgtacttgga ttttttttta tgttgaattg agaattttcc aaattagaac
421 tacacacact ttatttatca agtttaataa aataatattc cttctctcct gggctatgac
481 aataatatca ttttacagtt ccaaaggaaa aattaaaggg atttaacctc tttgaaaata
541 atatccgaat tttctaactt cctagtgtca atgatccaac tacaaaacta tagaccaaaa
601 gctttaggtt taatagaata ttaaatgatg cttcaagtga taacagagat taaaataaat
661 aaataaataa gtctcctatg ctttaggaag ccgggaacct ctaacaagat tctatagtta
721 ttcaaaccta ctccctagaa atttatcacc caaagagcag ccccaaagat tagctgttaa
781 tgccatgaag atgccaaaga taatcccatg acagtctaat taccttatct cgtatgtcag
841 cctcatgggt cttctaggcc acagtcggcc tggattcctt tattcacctc tccttcagag
901 ctgaaaactg actgtagcac atctgtaata gtctttcttt tgaatcacgt agttctaaca
961 gtttcaaaca aggctactca tttgctgctc tccagggaat tttacaatag cggaaagttc
1021 agatctccca aatttctgac ctgctatgac ttacacattt ccataacctt tattactgga
1081 gtaccctcct tctgagagtg gcttctaata gtcttgttaa ttagaaccaa aatacatcag
1141 aggccttcta gatatccaac cagagtgcag tgaaagtgtt cagtcactgt ataagcacag
1201 aaaaaaagaa tgacaaggtt cacttttgat gatcggggtg ttattaataa gacatgtttc
1261 ctttttggta ctagggtgct catggtgctg taggtgcccc tggt
//