Abstract
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.
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Hallam, P.J., Wacey, A.I., Mannucci, P.M. et al. A novel missense mutation (Thr176→IIe) at the putative hinge of the neo N-terminus of activated protein C. Hum Genet 95, 447–450 (1995). https://doi.org/10.1007/BF00208974
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DOI: https://doi.org/10.1007/BF00208974