The human type I collagen mutation database.
Type I collagen is the most abundant and ubiquitously distributed of the collagen family of proteins. It is a heterotrimer comprising two alpha1(I) chains and one alpha2(I) chain which are encoded by the unlinked loci COL1A1 and COL1A2 respectively. Mutations at these loci result primarily in the connective tissue disorders osteogenesis imperfecta and Ehlers-Danlos syndrome types VIIA and VIIB. Two instances of osteoporosis and a single instance of Marfan syndrome are also the result of mutations at these loci. The mutation data are accessible on the world wide web at http://www.le.ac.uk/depts/ge/collagen/collagen.html
20 references, click to expand
-
G to A polymorphism in exon 45 of the COL1A1 gene.Nucleic Acids Res. 1991 Aug 11;19(15):4302 PMID: 1870989
-
The zipper-like folding of collagen triple helices and the effects of mutations that disrupt the zipper.Annu Rev Biophys Biophys Chem. 1991;20:137-52 PMID: 1867713
-
Completion of the last half of the structure of the human gene for the Pro alpha 1 (I) chain of type I procollagen (COL1A1).Matrix. 1991 Dec;11(6):375-9 PMID: 1787829
-
Three new polymorphisms at the COL1A2 locus.Matrix. 1992 Apr;12(2):87-91 PMID: 1603040
-
Osteogenesis imperfecta type III: mutations in the type I collagen structural genes, COL1A1 and COL1A2, are not necessarily responsible.J Med Genet. 1993 Jun;30(6):492-6 PMID: 8100856
-
The collagen superfamily.Int Arch Allergy Immunol. 1995 Aug;107(4):484-90 PMID: 7620364
-
Perinatal lethal osteogenesis imperfecta.J Med Genet. 1995 Apr;32(4):284-9 PMID: 7643358
-
Collagens: molecular biology, diseases, and potentials for therapy.Annu Rev Biochem. 1995;64:403-34 PMID: 7574488
-
Genetic heterogeneity in osteogenesis imperfecta.J Med Genet. 1979 Apr;16(2):101-16 PMID: 458828
-
Internal deletion in a collagen gene in a perinatal lethal form of osteogenesis imperfecta.Nature. 1983 Jul 7-13;304(5921):78-80 PMID: 6191221
-
Osteogenesis imperfecta: cloning of a pro-alpha 2(I) collagen gene with a frameshift mutation.J Biol Chem. 1984 Nov 10;259(21):12941-4 PMID: 6092353
-
Multiexon deletion in an osteogenesis imperfecta variant with increased type III collagen mRNA.J Biol Chem. 1985 Jan 25;260(2):691-4 PMID: 2981843
-
Intron-mediated recombination may cause a deletion in an alpha 1 type I collagen chain in a lethal form of osteogenesis imperfecta.Proc Natl Acad Sci U S A. 1985 May;82(9):2870-4 PMID: 3857621
-
Complete nucleotide sequence of the region encompassing the first twenty-five exons of the human pro alpha 1(I) collagen gene (COL1A1)Gene. 1988 Jul 15;67(1):105-15 PMID: 2843432
-
The family of collagen genes.Annu Rev Biochem. 1990;59:837-72 PMID: 2197991
-
A sequence polymorphism in the 3'-nontranslated region of the pro alpha 1 chain of type I procollagen.Nucleic Acids Res. 1990 Aug 25;18(16):4968 PMID: 1975686
-
PvuII polymorphism at the COL1A2 locus.Nucleic Acids Res. 1990 Sep 25;18(18):5577 PMID: 1977119
-
Brittle bones--fragile molecules: disorders of collagen gene structure and expression.Trends Genet. 1990 Sep;6(9):293-300 PMID: 2238087
-
A substitution at a non-glycine position in the triple-helical domain of pro alpha 2(I) collagen chains present in an individual with a variant of the Marfan syndrome.J Clin Invest. 1990 Nov;86(5):1723-8 PMID: 1978725
-
A 9-base pair deletion in COL1A1 in a lethal variant of osteogenesis imperfecta.J Biol Chem. 1991 Nov 25;266(33):22370-4 PMID: 1939261
Contact
No. 2 Wenbo Road, Zhangqiu District, Jinan, Shandong
Qilu Normal University · Genelibs Bioinformatics Lab
750 Shunhua Rd, Jinan
2F, Bldg F, University Science Park
Tel: 0531-88819269
WeChat Official Account
Follow our WeChat subscription account for real-time updates and the latest in medical and biological research.
Business Email
E-mail: product@genelibs.com
Copyright © 2026.Genelibs Jinan Honghui Biotechnology Co., Ltd. 鲁ICP备20007159号-2
