Genetic Phenomena: News and Research on Mutation, Missense

MeSH tree: G05.365.590.650

Human 'domainome' reveals root cause of heritable disease

Most mutations which cause disease by swapping one amino acid out for another do so by making the protein less stable, according to a massive study of human protein variants published in the journal Nature. Unstable proteins ...

FRYL gene variants linked to a new neurological disorder

A recent study from the lab of Dr. Hugo J. Bellen, distinguished service professor at Baylor College of Medicine and investigator at the Jan and Dan Duncan Neurological Research Institute (Duncan NRI) links the FRYL gene ...