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Ser252Asn Mutation Introduces a New N-Linked Glycosylation Site and Causes Type IIb Protein C Deficiency.

Thrombosis and haemostasis - 1 May 2024

Zhou Shijie, Wu Xi, Song Ying, Li Lei, Shi Chunli, Lai Zhe, Ding Qiulan, Wu Wenman, Dai Jing, Wang Xuefeng, Lu Yeling

Abstract excerpt

BACKGROUND: Protein C (PC) is a vitamin K-dependent anticoagulant serine protease zymogen which upon activation by the thrombin-thrombomodulin (TM) complex downregulates the coagulation cascade by degrading cofactors Va and VIIIa by limited proteolysis. We identified a thrombosis patient who carried a heterozygous mutation c.881G > A, p.Ser252Asn (S252N) in PROC. This mutation was originally described in a report...

Topics

Humans
Protein C
Protein C Deficiency
Glycosylation
Blood Coagulation
Female
Thrombin
Mutation
Thrombomodulin
Thrombosis
HEK293 Cells

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Animals

Protein Binding

Serine

Male

Heterozygote

Source

Identifiers

PMID: 38011863
DOI: 10.1055/s-0043-1777133

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026.

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