In Silico Analysis of Pathogenic Missense Mutation in GBA protein for Gaucher Disease

Hend Ghassan Eldous, Maryiam Jama Ali Osman, Syed Abdullah Basit, Muhammad Arif, Tanvir Alam*

*Corresponding author for this work

Research output: Chapter in Book/Report/Conference proceedingConference contributionpeer-review

Abstract

Gaucher disease (GD) is a common hereditary lysosomal storage disorder which is mainly caused by mutations in the glucocerebrosidase (GBA) gene, leading towards glucosylceramide accumulation in lysosomal macrophages. Understanding the pathogenicity of GBA mutations is crucial for the diagnosis and treatment plan for patients. For this purpose, we conducted in-silico analyses of previously identified 13 missense mutations on GBA gene from an Iranian population. Multiple in-silico tools were employed for the prediction of pathogenicity and stability of the mutations. Out of this pool of mutations, three mutations (p.L393V, p.S439G, p.L483P) were prioritized based on pathogenicity score. Moreover, conservation analysis across multiples species revealed higher conservation at mutation sites, especially for the site of p.S439G. In-silico physicochemical analysis also highlighted significant changes in properties for p.S439G. Our findings demonstrate the effectiveness of in-silico tools in prioritizing pathogenic mutations of GB and provide insights into the molecular consequences of GBA mutations in GD.

Original languageEnglish
Title of host publicationICMHI 2024 - 2024 8th International Conference on Medical and Health Informatics
PublisherAssociation for Computing Machinery
Pages175-180
Number of pages6
ISBN (Electronic)9798400716874
DOIs
Publication statusPublished - 17 May 2024
Event8th International Conference on Medical and Health Informatics, ICMHI 2024 - Yokohama, Japan
Duration: 17 May 202419 May 2024

Publication series

NameACM International Conference Proceeding Series

Conference

Conference8th International Conference on Medical and Health Informatics, ICMHI 2024
Country/TerritoryJapan
CityYokohama
Period17/05/2419/05/24

Keywords

  • GBA protein
  • Gaucher disease
  • Missense mutation

Fingerprint

Dive into the research topics of 'In Silico Analysis of Pathogenic Missense Mutation in GBA protein for Gaucher Disease'. Together they form a unique fingerprint.

Cite this