title: Exploration of structural stability in deleterious nsSNPs of the XPA gene: A molecular dynamics approach.
abstract: BACKGROUND
  Distinguishing the deleterious from the massive number of non-functional nsSNPs that occur within a single genome is a considerable challenge in mutation research. In this approach, we have used the existing in silico methods to explore the mutation-structure-function relationship in the XPAgene.
  
  
  METHODS
  We used the Sorting Intolerant From Tolerant (SIFT), Polymorphism Phenotyping (PolyPhen), I-Mutant 2.0, and the Protein Analysis THrough Evolutionary Relationships methods to predict the effects of deleterious nsSNPs on protein function and evaluated the impact of mutation on protein stability by Molecular Dynamics simulations.
  
  
  RESULTS
  By comparing the scores of all the four in silico methods, nsSNP with an ID rs104894131 at position C108F was predicted to be highly deleterious. We extended our Molecular dynamics approach to gain insight into the impact of this non-synonymous polymorphism on structural changes that may affect the activity of the XPAgene.
  
  
  CONCLUSIONS
  Based on the in silico methods score, potential energy, root-mean-square deviation, and root-mean-square fluctuation, we predict that deleterious nsSNP at position C108F would play a significant role in causing disease by the XPA gene. Our approach would present the application of in silicotools in understanding the functional variation from the perspective of structure, evolution, and phenotype.
authors.affiliation: School of Biosciences and Technology, VIT University, Vellore, Tamil Nadu, India.
authors.forename: N
authors.initials: N
authors.lastname: Nagasundaram
authors.forename: C George
authors.initials: CG
authors.lastname: Priya Doss