2023
DOI: 10.1371/journal.pone.0294417
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Computational analysis of the functional and structural impact of the most deleterious missense mutations in the human Protein C

Mahvash Farajzadeh-Dehkordi,
Ladan Mafakher,
Abbas Harifi
et al.

Abstract: Protein C (PC) is a vitamin K-dependent factor that plays a crucial role in controlling anticoagulant processes and acts as a cytoprotective agent to promote cell survival. Several mutations in human PC are associated with decreased protein production or altered protein structure, resulting in PC deficiency. In this study, we conducted a comprehensive analysis of nonsynonymous single nucleotide polymorphisms in human PC to prioritize and confirm the most high-risk mutations predicted to cause disease. Of the 3… Show more

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