A currative database for lysosomal storage disorder
The disease is caused due to the defective enzyme α-L-fucosidase in lysosomes. Deficiency of the enzyme is characterized by the accumulation of oligosaccharides, glycoproteins and glycolipids containing fucose (Kaur et al., no date). The gene encoding the defective enzyme, FUCA1 is located at 1q36.11.
Reference :
Kaur, A. et al. (no date) ‘Diagnosis and Supportive Management of Fucosidosis: A Case Report’, Cureus, 11(11). doi: 10.7759/cureus.6139.
| Mutation | PANTHER | PhD-SNP | SNPs&GO | SIFT | SNAP | Meta-SNP |
| G65D | Disease | Disease | Disease | Disease | Disease | Disease |
| S68L | Disease | Disease | Disease | Disease | Disease | Disease |
| L410R | Unclassified | Disease | Disease | Neutral | Disease | Disease |