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

Hallam, P. J., Wacey, A. I., Mannucci, P. M., Legnani, C., Kuhnau, W., Krawczak, M., Kakkar, V. and Cooper, David Neil ORCID: https://orcid.org/0000-0002-8943-8484 1995. A novel missense mutation (Thr176-->Ile) at the putative hinge of the neo N-terminus of activated protein C. Human Genetics 95 (4) , pp. 447-450. 10.1007/bf00208974

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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.

Item Type:	Article
Date Type:	Publication
Status:	Published
Schools:	Schools > Medicine
Subjects:	R Medicine > R Medicine (General) R Medicine > RZ Other systems of medicine
Publisher:	Springer Verlag
ISSN:	0340-6717
Last Modified:	27 Oct 2022 08:16
URI:	https://orca.cardiff.ac.uk/id/eprint/61774

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