Friday, July 30, 2010

Mutation T@Ster: Evaluation For Disease-Causing DNA Sequence Alterations

This is a web-based bioinformatics tool for rapid evaluation for the disease-causing DNA sequence alterations. MutationT@ster integrates information from different biomedical databases and analyses evolutionary conservation, splice-site changes, loss of protein features and changes that might affect the amount of mRNA to predict consequences of a polymorphism. The test is quite fast and a typical query takes less than 0.3 seconds to complete.

Its limitations include 1) inability to analyze insertion-deletions greater than 12 base pairs, 2) inability to analyze alterations spanning an intron-exon border, and 3) analysis of non-exonic alterations is restricted to Kozak consensus sequence, splice sites and poly(A) signal.

Other software with similar capability are: 1) Panther, 2) Pmut, 3) PolyPhen and PolyPhen-2, and 4) SNAP (screening for non-acceptable polymorphisms).