Title : A single base mutation that converts glycine 907 of the alpha 2(I) chain of type I procollagen to aspartate in a lethal variant of osteogenesis imperfecta. The single amino acid substitution near the carboxyl terminus destabilizes the whole triple helix.

Pub. Date : 1989 Feb 15

PMID : 2914942






2 Functional Relationships(s)
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Protein Name
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1 A single base mutation that converts glycine 907 of the alpha 2(I) chain of type I procollagen to aspartate in a lethal variant of osteogenesis imperfecta. Glycine collagen type I alpha 2 chain Homo sapiens
2 Therefore, the single base substitution that converts glycine 907 in the alpha 2(I) chain to aspartate is solely responsible for the decreased thermal stability of the type I procollagen synthesized by the proband"s fibroblasts. Glycine collagen type I alpha 2 chain Homo sapiens