MISSENSE MUTATION

Updated 04-May-2020.

Mondo shtuff from around the internet, all about MISSENSE MUTATION!

Definition of Missense mutation: Read medical definition of Missense mutation

My botty best at summarizing from Wikipedia: missense mutation is a type of nonsynonymous substitution in a DNA sequence . mutations are responsible for human diseases such as Epidermolysis bullosa, sickle-cell disease, and S not all missense mutations lead to appreciable protein changes . substitution could occur in a region of the protein which does not significantly affect secondary structure or function . this manifests with overlapping mandibuloacral dysplasia and progeria syndrome . a method to screen for such changes was proposed in 2012, namely fast parallel proteolysis (FASTpp