In silico analysis of missense variants of the C1qA gene related to infection and autoimmune diseases.

ABSTRACT:

Objectives

C1q is a key activator of the classical pathway of the complement system and exerts consequences relating to opsonization and phagocytosis. The C1qA gene is one of three genes encoding the C1q molecule. Defects in C1q, and especially in C1qA, have been linked to an increased susceptibility to infection, sepsis, and systemic lupus erythematosus. These defects could arise from missense single nucleotide polymorphisms (SNPs) and their deleterious impacts on protein structure and function. Thus, identifying high-risk missense SNPs in C1qA has become a necessity if we are to identify appropriate measures for prevention and management of affected patients.

Methods

A comprehensive in silico study was conducted to screen the 184 missense SNPs in the <

SUBMITTER: Behairy MY 

PROVIDER: S-EPMC9519598 | biostudies-literature | 2022 Dec

REPOSITORIES: biostudies-literature