• Mutation; HGNC; HGNC:2197; COL1A1; Simple; p.Gly869Cys (c.2605G>T); ClinVar=VCV00001729; Zygosity=Heterozygous (PubMed=1953667).
  

PubMed=6469997; DOI=10.1016/S0021-9258(18)90631-9
Beat Steinmann, Velidi H. Rao, Alfred Vogel, Peter Bruckner, Richard Gitzelmann, Peter H. Byers;
Cysteine in the triple-helical domain of one allelic product of the alpha 1(I) gene of type I collagen produces a lethal form of osteogenesis imperfecta.
J. Biol. Chem. 259:11129-11138(1984)

PubMed=1953667; DOI=10.1042/bj2790747; PMCID=PMC1151509
Beat Steinmann, Andrea Westerhausen, Constantinos Deltas Constantinou, Andrea Superti-Furga, Darwin Johnson Prockop;
Substitution of cysteine for glycine-alpha 1-691 in the pro alpha 1(I) chain of type I procollagen in a proband with lethal osteogenesis imperfecta destabilizes the triple helix at a site C-terminal to the substitution.
Biochem. J. 279:747-752(1991)

CLPUB00447
Richard A. Mulivor, Sharon F. Suchy;
1992/1993 catalog of cell lines. NIGMS human genetic mutant cell repository. 16th edition. October 1992.
(In misc. document) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda; USA (1992)