Original paper
Loss-of-function, gain-of-function and dominant-negative mutations have profoundly different effects on protein structure
Abstract
Most known pathogenic mutations occur in protein-coding regions of DNA and change the way proteins are made. Taking protein structure into account has therefore provided great insight into the molecular mechanisms underlying human genetic disease. While there has been much focus on how mutations can disrupt protein structure and thus cause a loss of function (LOF), alternative mechanisms, specifically dominant-negative (DN) and gain-of-function...
Paper Details
Title
Loss-of-function, gain-of-function and dominant-negative mutations have profoundly different effects on protein structure
Published Date
Jul 6, 2022
Journal
Volume
13
Issue
1