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

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

doi:10.1007/BF00208974

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

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

Authors

P J Hallam¹, A I Wacey, P M Mannucci, C Legnani, W Kühnau, M Krawczak, V V Kakkar, D N Cooper

Affiliation

¹ Charter Molecular Genetics Laboratory, Thrombosis Research Institute, London, UK.

PMID: 7705844
DOI: 10.1007/BF00208974

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.

MeSH terms

Adult
Amino Acid Sequence
Base Sequence
Enzyme Activation
Female
Humans
Isoleucine*
Models, Molecular
Molecular Sequence Data
Point Mutation*
Polymerase Chain Reaction
Pregnancy
Protein C / chemistry
Protein C / genetics*
Protein C Deficiency
Protein Folding
Threonine*

Substances

Protein C
Isoleucine
Threonine