Substitution of arginine for glycine at position 847 in the triple-helical domain of the alpha 1 (I) chain of type I collagen produces lethal osteogenesis imperfecta. Molecules that contain one or two abnormal chains differ in stability and secretion.

Wallis 1990 · Wallis G A, Starman B J, Schwartz M F, et al. · Journal of Biological Chemistry · 1990