"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 ...

Scientists at deCODE genetics and collaborators have published a study in the Journal of Allergy and Clinical Immunology reporting a rare missense variant in STAT6 that protects against asthma.

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.

Beltran and his team could identify which missense variants reduced protein stability. This strategy allowed him to pool and analyze hundreds of thousands of variants of diverse proteins in a single ...

Research, supported by the Wolverine Foundation and published in JCI Insights, characterizes a mutation in MAPK8IP3 that disrupts dopamine signaling "The work described in this manuscript is exemplary ...