A novel missense mutation (Thr176-->Ile) at the putative hinge of the neo N-terminus of activated protein C.

作者信息

Hallam P J, Wacey A I, Mannucci P M, Legnani C, Kühnau W, Krawczak M, Kakkar V V, Cooper D N

机构信息

Charter Molecular Genetics Laboratory, Thrombosis Research Institute, London, UK.

出版信息

Hum Genet. 1995 Apr;95(4):447-50. doi: 10.1007/BF00208974.

We describe the detection of a novel missense mutation (Thr176-->Ile) that is located at the neo N-terminus of activated protein C. The Thr176-->Ile substitution leads to a type 1 deficiency state. Evidence is presented suggesting that this residue plays a role in pivoting the N-terminus of protein C to fold into the oxyanion hole.