Medical Sains : Jurnal Ilmiah Kefarmasian
Vol 9 No 1 (2024)

MISSENSE MUTATIONS IN THE IRAK1 GENE ARE ASSOCIATED WITH AN INCREASED RISK OF SYSTEMIC LUPUS ERYTHEMATOSUS

Adnan Adnan (Universitas Ahmad Dahlan)
Dyah Aryani Perwitasari (Universitas Ahmad Dahlan)
Rita Maliza (universitas Andalas)
Nanik Sulistyani (Universitas Ahmad Dahlan)



Article Info

Publish Date
05 Mar 2024

Abstract

Single nucleotide polymorphisms (SNPs) are the most common form of genetic variation in humans. Missense SNPs can change protein structure and function. This study aimed to determine missense SNPs of the IRAK1 gene that can affect the amino acid sequence and lead to changes in protein structure and function, as well as their relationship as a risk factor for SLE. In this in silico method, several bioinformatics tools have been used to identify missense SNPs, including their properties and impacts, as well as their interaction networks with proteins. The tools used were PolyPhenv2, SIFT, PhD-SNP, PROVEAN, SNAP, Panthers, I-Mutant 3.0, and GeneMania. Four missense SNPs, rs11465830, rs1059702, rs1059703, and 10127175, were obtained from the NCBI SNP database. The SIFT test results showed that all the SNPs were tolerant. In the test results obtained using PolyPhen, the four SNPs were benign. The results of the probe test indicated that the four SNPs were neutral. When tested with SNAP, one SNP was neutral, and three others had an impact. In the PhD-SNP test, all SNPs were neutral. In the panther test, all SNPs were benign. The I-mutant assay showed that the four SNPs could decrease protein stability. Tests with GeneMania have reported that most interactions between genes were between IRAK1 and MYD88, and physical interactions were the most dominant form of interaction. Conclusion. rs10127175, rs11465830, rs1059702, and rs1059703 are missense SNPs in IRAK1, which can disrupt protein stability and be a risk factor for SLE. Keywords: IRAK1, SNP, Missense, Systemic Lupus Erythematosus

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Journal Info

Abbrev

iojs

Publisher

Subject

Medicine & Pharmacology

Description

The Medical Sains journal is a scientific publication media published by the Muhammadiyah Cirebon College of Pharmacy which is published 4 (four) times in 1 (one) year, namely January-March, April-June, July-September and October-December. The journal contains research in the field of pharmacy ...