A novel missense mutation (Thr176-->Ile) at the putative hinge of the neo N-terminus of activated protein C.
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.
Hallam
P J
PJ
Charter Molecular Genetics Laboratory, Thrombosis Research Institute, London, UK.
Wacey
A I
AI
Mannucci
P M
PM
Legnani
C
C
Kühnau
W
W
Krawczak
M
M
Kakkar
V V
VV
Cooper
D N
DN
D000328:Adult; D000595:Amino Acid Sequence; D001483:Base Sequence; D004789:Enzyme Activation; D005260:Female; D006801:Humans; D007532:Isoleucine; D008958:Models, Molecular; D008969:Molecular Sequence Data; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D011247:Pregnancy; D011486:Protein C / Q000737:chemistry / Q000235:genetics*; D020151:Protein C Deficiency; D017510:Protein Folding; D013912:Threonine
D011486:Protein C; D007532:Isoleucine; D013912:Threonine