In silico analysis of missense variants of the C1qA gene related to infection and autoimmune diseases.
J Taibah Univ Med Sci
; 17(6): 1074-1082, 2022 Dec.
Article
en En
| MEDLINE
| ID: mdl-36212588
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 C1qA gene using different tools with different algorithms and approaches. We investigated the impact of SNPs on protein function, stability, and structure. In addition, we identified the location of the SNPs on protein domains, secondary structure alignment, and the phylogenetic conservation of their positions.Results:
Of the 184 missense SNPs, 10 SNPs were predicted to be the most damaging to protein function and structure.Conclusion:
Ten missense SNPs were predicted to have the highest risk of damaging protein function and structure, thus leading to infection, sepsis, and systemic lupus erythematosus. These 10 SNPs constitute the best candidates for further experimental investigations.
Texto completo:
1
Bases de datos:
MEDLINE
Tipo de estudio:
Prognostic_studies
Idioma:
En
Revista:
J Taibah Univ Med Sci
Año:
2022
Tipo del documento:
Article
País de afiliación:
Egipto