Impact of nonsynonymous single nucleotide polymorphisms in <i>PROCR</i> gene on protein stability and thrombotic risk: a molecular dynamic approach.

ABSTRACT:

Introduction

Thrombosis is a serious vascular disorder influenced by genetic factors, including nonsynonymous single nucleotide polymorphisms (nsSNPs) in the PROCR gene, which encodes the endothelial protein C receptor (EPCR). These mutations may disrupt EPCR stability and impair its anticoagulant function, thereby increasing the risk of thrombosis.

Methods

We employed a multi-layered computational approach to analyze 217 nsSNPs in the PROCR gene. Functional impacts were predicted using Sorting Intolerant From Tolerant (SIFT), Polymorphism Phenotyping v2 (PolyPhen-2), Screening for Non-Acceptable Polymorphisms 2 (SNAP2), and Protein Analysis Through Evolutionary Relationships (PANTHER). Disease associations were assessed using Single Nucleotide Polymorphisms an

SUBMITTER: Abuagla HA 

PROVIDER: S-EPMC12075529 | biostudies-literature | 2025

REPOSITORIES: biostudies-literature