Computational Identification and Structural Analysis of Deleterious Functional SNPs in ARL6 Gene Causing Bardet-Biedl Syndrome.

摘要

ABSTRACT Here we have evaluated the Single Nucleotide Polymorphisms (SNPs) that can alter the expression and the function in ARL6 gene through computational methods. To explore possible relationships between genetic mutations and phenotypic variation, different computational methods like Sorting Intolerant from Tolerant (SIFT, an evolutionary-based approach), Polymorphism Phenotyping (PolyPhen, a structure-based approach) and I-Mutant 3.0 (support vector machine based tool) are discussed. There.