Protein Stability Perturbation Contributes to the Loss of Function in Haploinsufficient Genes

Missense variants are among the most studied genome modifications as disease biomarkers. It has been shown that the “perturbation” of the protein stability upon a missense variant (in terms of absolute ΔΔG value, i.e., |ΔΔG|) has a significant, but not predictive, correlation with the pathogenicity...

Full description

Bibliographic Details
Main Authors: Giovanni Birolo, Silvia Benevenuta, Piero Fariselli, Emidio Capriotti, Elisa Giorgio, Tiziana Sanavia
Format: Article
Language:English
Published: Frontiers Media S.A. 2021-02-01
Series:Frontiers in Molecular Biosciences
Subjects:
Online Access:https://www.frontiersin.org/articles/10.3389/fmolb.2021.620793/full