Collagen mutation

Dalgleish R The Human Collagen Mutation Database 1998. Nucleic Acids Res 26 253-255,1998. 

Type I collagen mutations associated with osteogenesis imperfecta Dentinogenesis imperfecta type I (see also Chap. 9) Opalescent blue-gray or yellow-brown teeth because of abnormal dentin calcification... 

Figure 14.2 Models of a collagen-like peptide with a mutation Gly to Ala in the middle of the peptide (orange). Each polypeptide chain is folded into a polyproline type II helix and three chains form a superhelix similar to part of the collagen molecule. The alanine side chain is accommodated inside the superhelix causing a slight change in the twist of the individual chains, (a) Space-filling model, (b) Ribbon diagram. Compare with Figure 14.1c for the change caused by the alanine substitution. (Adapted from J. Bella et al.. Science 266 75-81, 1994.)...

Table 48-4. Diseases caused by mutations in coiiagen genes or by deficiencies in the activities of posttranslational enzymes involved in the biosynthesis of collagen. ...

Osteogenesis Imperfecta (eg, MIM 166200) Due to a variety of mutations In the COL /Aland COL 1A2 genes affecting the synthesis and structure of type 1 collagen. 

THE MOLECULAR BASES OF THE CHONDRODYSPLASIAS INCLUDE MUTATIONS IN GENES ENCODING TYPE II COLLAGEN FIBROBLAST GROWTH FACTOR RECEPTORS... 

Engel, J. and Prockop, D.J. (1991) The zipper-like folding of collagen triple helices and the effects of mutations that disrupt the zipper. Annual Review of Biophysics and Biophysical Chemistry 20, 137—152. 

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