The KMDB/MutationView is a graphical database of mutations in human disease-causing genes and its current version consists of nine category-based sub-databases including diseases of eye, heart, ear, b
Pathogenic variants. Each line corresponds to a variant, providing: the amino acid replacement and its location in the protein sequence, the UniProt code for the protein, the values of the contributio
Lysosomal storage disorders (LSDs) are a group of rare genetic conditions characterized by the impaired function of enzymes responsible for lipid digestion. Among these LSDs, Tay-Sachs disease (TSD) a
