A currative database for lysosomal storage disorder
The disease is caused due to the defect in sialin, a protein that is involved in the transport of sialic acid from lysosomal membranes. This is very important for myelination in CNS. The gene responsible for the transporter protein SLC17A5 gene is located at 6q13 (Paavola et al., 2015).
Reference :
Paavola, L. E. et al. (2015) ‘A 13-year follow-up of Finnish patients with Salla disease’, Journal of Neurodevelopmental Disorders, 7(1), p. 20. doi: 10.1186/s11689-015-9116-7.
| Mutation | PANTHER | PhD-SNP | SNPs&GO | SIFT | SNAP | Meta-SNP |
| R39C | Disease | Disease | Disease | Disease | Disease | Disease |
| K136E | Disease | Disease | Disease | Disease | Disease | Disease |
| H183R | Disease | Disease | Disease | Disease | Disease | Disease |
| P334R | Disease | Disease | Disease | Disease | Disease | Disease |
| G371V | Disease | Disease | Disease | Disease | Disease | Disease |