The Human Type I and Type III Collagen Mutation Database aims to contain a record of every published account of a mutation or variant in both of these collagen types. Type I collagen triple helices comprise two a1(I) chains and one a2(I) chain. The former are encoded at the COL1A1 locus at chromosome 17q21.33 and the latter at the COL1A2 locus at chromosome 7q21.3. Type I collagen is expressed mainly in bone, skin and tendon and mutations result predominantly in osteogenesis imperfecta. Most mutations are dominant. Type III collagen triple helices comprise three identical a1(III) chains encoded at the COL3A1 locus at chromosome 2q31-q32.3. Type III collagen is expressed mainly in elastic tissues including skin, blood vessels and hollow organs and mutations result predominantly in Ehlers-Danlos syndrome type IV. Most mutations are dominant.
Data for each of the three genes are divided into four sections
i) Amino acid substitutions
ii) RNA splicing mutations
iii) Deletions, insertions, duplications, and frameshifts
For each mutation a description is provided at both the level of nucleic acid and the consequences to the expressed protein as appropriate. As far as possible, the recommendations of Antonarakis et al. (1998) Human Mutation 11:1-3 and den Dunnen & Antonarakis (2000) Human Mutation 15:7-12 are followed and links are provided to reference cDNA sequences. The clinical condition resulting from the mutation is given along with a reference to the literature that links to PubMed. For both collagen types, most mutations have been identified in single individuals or families ("private" mutations). However, where there are recurrent independent instances of the same mutation, these are recorded.
Recent develoments :
For the COL1A1 and COL1A2 mutations, maps of the amino acid substitutions are provided in Adobe Acrobat format. These maps contain hypertext links for each mutation providing access to further information.
1. Dalgleish R (1997) The human type I collagen mutation database. Nucl Acids Res 25: 181-187
2. Dalgleish R (1998) The human collagen mutation database 1998. Nucl Acids Res 26: 253-255