The denaturation temperature of the mutant protein was some 6 degrees centigrade below normal. [PubMed: 6282119]. [PubMed: 6267597] (Abstract) Genet. In contrast to peptides, they found no correlation of delta-T(m) with the identity of the substituting residue but instead observed regular variations in delta-T(m) with the substitution location on different triple helix regions. J. Biol. (Abstract) Wenstrup et al. Hum. 2/1990. Ho et al. Proc. (1998) developed a method for analysis of the COL1A1 and COL1A2 genes in 15 patients with type I OI and found only COL1A1 mutations. [PubMed: 17078022, images, related citations] Metab. In a family with mild osteogenesis imperfecta (166220), Wenstrup et al. 9: 300-315, 1997. Watson et al. Chem. Genet. 3: 391-394, 1994. J. Biol. She also displayed slightly blue sclerae. Hum. Thus, for most of the mature mRNA, the last 17 bp of exon 46 were deleted and the resultant frameshift introduced a termination codon just 3 codons downstream. Structural and functional characterization of a splicing mutation in the pro-alpha-2(I) collagen gene of an Ehlers-Danlos type VII patient. [PubMed: 8786065, related citations] [Full Text], Lehmann, H. W., Mundlos, S., Winterpacht, A., Brenner, R. E., Zabel, B., Muller, P. K. extract on normal human dermal fibroblast cells and a wound-healing model in mice. (1991) was identified initially during a screening of relatives of a woman with postmenopausal osteoporosis resulting from a gly661-to-ser (120160.0030) mutation of the COL1A2 gene. [PubMed: 3800425] Defining the domains of Human COL1A2 (hCOL1A2) involved in collagen synthesis. [Full Text], Johnson, M. T., Morrison, S., Heeger, S., Mooney, S., Byers, P. H., Robin, N. H. 69: 304-308, 1985. Byers, P. H. 262: 16032-16036, 1987. (1991) demonstrated a gly661-to-ser (G661S) mutation in the COL1A2 gene in a woman with features suggestive of postmenopausal osteoporosis (166710). J. Med. The human type I collagen mutation database. [Full Text], Tsukahara, M., Shinkai, H., Asagami, C., Eguchi, T., Kajii, T. [PubMed: 6092353] Splice site mutation causing deletion of exon 21 sequences from the pro-alpha-2(I) chain of type I collagen in a patient with severe dentinogenesis imperfecta but very mild osteogenesis imperfecta. Glycine to tryptophan substitution in type I collagen in a patient with OI type III: a unique collagen mutation. Clinical variability of osteogenesis imperfecta linked to COL1A2 and associated with a structural defect in the type I collagen molecule. J. Med. Kere, J., Donis-Keller, H., de la Chapelle, A. J. Biol. Hum. She had mild conductive hearing loss. Collagen Rel. 73: 91-92, 1986. The change resulted in decreased thermal stability of type I collagen synthesized by the patient's fibroblasts. Hum. In a boy with 'atypical' OI and his asymptomatic mother, Kuivaniemi et al. To relate the delta-T(m) map to peptide-based stability predictions, the authors extracted the activation energy of local helix unfolding from the reported peptide data and constructed the local helix unfolding map and tested it by measuring the hydrogen-deuterium exchange rate for glycine NH residues involved in interchain hydrogen bonds. Detection of a high frequency RsaI polymorphism in the human pro-alpha-2(I) collagen gene which is linked to an autosomal dominant form of osteogenesis imperfecta. Science 182: 298-299, 1973. 260: 11322-11329, 1985. In a case of lethal osteogenesis imperfecta (166210), Tsuneyoshi et al. 252: 633-640, 1988. Genet. Two new polymorphic markers in the human pro-alpha-2(I) collagen gene. [Full Text], Nicholls, A. C., Oliver, J., Renouf, D. V., Heath, D. A., Pope, F. M. Nathanson et al. (1994) observed the same mutation in a Chinese patient with EDS VIIB. (1993) reported this mutation in a single family. Cytogenet. The sclerae were slightly blue; hearing was within normal limits. Faqeih et al. donation now and again in the future. Analyses of 103 chromosomes in 52 controlled individuals were negative for the new site, indicating that the substitution is not a common polymorphism. Acad. [PubMed: 9295084] After casting of her legs and learning to walk, however, her lower limbs showed dramatic improvement which had been maintained. (1985); Grobler-Rabie et al. Patients with mutations affecting the first 120 amino acids at the amino-terminal end of the collagen type I triple helix had blue sclerae but did not have dentinogenesis imperfecta. [PubMed: 8100856, related citations] Nature 294: 129-135, 1981. They quoted others as showing that mutations in the COL1A2 gene can produce not only OI type I but also OI types II, III and IV. (1990); Wozney et al. 32: 196-201, 1987. A disease with features of cutis laxa and Ehlers-Danlos syndrome: report of a mother and daughter. [PubMed: 8444468, related citations] [Full Text: https://jmg.bmj.com/lookup/pmidlookup?view=long&pmid=3023615], Watson, R. B., Wallis, G. A., Holmes, D. F., Viljoen, D., Byers, P. H., Kadler, K. E. (2004). The clinical features of homozygous alpha-2(I) collagen deficient osteogenesis imperfecta. Cytogenet. J. Biol. From studies of type I collagen in a patient with Ehlers-Danlos syndrome type VIIB (EDSARTH2; 617821), Eyre et al. Hum. (1988), who noted that she had had mitral valve replacement. Arachnoid cyst and chronic subdural haematoma in a child with osteogenesis imperfecta type III resulting from the substitution of glycine 1006 by alanine in the pro alpha-2(I) chain of type I procollagen. J. Med. 262: 16376-16385, 1987. Genet. Substitution of glycine-661 by serine in the alpha-1(I) and alpha-2(I) chains of type I collagen results in different clinical and biochemical phenotypes.