Computational analysis of the functional and structural impact of the most deleterious missense mutations in the human Protein C.

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 340 missense mutations obtained from the NCBI database, only 26 were classified as high-risk mutations using various bioinformatic tools. Among these, we identified that 12 mutations reduced the stability of protein, and thereby had the greatest potential to disturb protein structure a

SUBMITTER: Farajzadeh-Dehkordi M 

PROVIDER: S-EPMC10683990 | biostudies-literature | 2023

REPOSITORIES: biostudies-literature