Accurate prediction of functional, structural, and stability changes in PITX2 mutations using in silico bioinformatics algorithms.

ABSTRACT: Mutations in PITX2 have been implicated in several genetic disorders, particularly Axenfeld-Rieger syndrome. In order to determine the most reliable bioinformatics tools to assess the likely pathogenicity of PITX2 variants, the results of bioinformatics predictions were compared to the impact of variants on PITX2 structure and function. The MutPred, Provean, and PMUT bioinformatic tools were found to have the highest performance in predicting the pathogenicity effects of all 18 characterized missense variants in PITX2, all with sensitivity and specificity >93%. Applying these three programs to assess the likely pathogenicity of 13 previously uncharacterized PITX2 missense variants predicted 12/13 variants as deleterious, except A30V which was predicted as benign variant for all programs. M

SUBMITTER: Seifi M 

PROVIDER: S-EPMC5903617 | biostudies-literature | 2018

REPOSITORIES: biostudies-literature