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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.Materials and 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
SUBMITTER: Nagasundaram N
PROVIDER: S-EPMC3243084 | biostudies-literature | 2011
REPOSITORIES: biostudies-literature