ASSESSING THE PATHOGENICITY OF MISSENSE SINGLE NUCLEOTIDE POLYMORPHISMS IN THE HUMAN FUCA1 GENE USING MULTIPLE BIOINFORMATICS TOOLS

ISRAA FAHİM, HANİN IDRİS, RAMA ALMOHAMAD ALYOUSEF, DİMA JOUJEH

International Journal of Medical Biochemistry - 2025;8(3):212-221

Objectives: Fucosidosis is a rare lysosomal storage disorder caused by mutations in the FUCA1 gene leading to a deficiency in α-L-fucosidase. This study aimed to investigate the pathogenic missense mutations in the FUCA1 gene and their effects on protein stability using various bioinformatics tools