"Missense" mutations — changes in a DNA sequence that swap one amino acid for another — in nearly 5,000 human proteins are known to cause genetic diseases, such as Huntington's disease and ...

The second pair, HumVar 3, consists of all the 13,032 human disease-causing mutations from UniProt and 8,946 human nonsynonymous single-nucleotide polymorphisms (nsSNPs) without annotated ...

The gene PSEN2 encodes presenilin-2, a subunit of γ-secretase, the aspartyl protease responsible for Aβ generation. Missense mutations in PSEN2 are a rare cause of early onset Alzheimer's disease.