Wikipedia
MutationTaster is a free web-based application to evaluate DNA sequence variants for their disease-causing potential. The software performs a battery of in silico tests to estimate the impact of the variant on the gene product / protein. Tests are made on both, protein and DNA level, MutationTaster is hence not limited to substitutions of single amino acids but can also handle synonymous or intronic variants.
Tests comprise (among others):
- amino acid substitution(s)
- conservation of affected amino acid(s)
- potential loss of functional protein domains
- length of protein
- effect on splicing
- conservation on DNA level (phastCons / phyloP)
- potential abrogation of regulatory elements (such as transcription factor binding sites)
Integrated data sources (among others):
- Ensembl
- UniProt
- ClinVar
- ExAC
- 1000 Genomes Project
- phyloP
- phastCons
The single results are then assessed by a Bayes classifier which decides whether or not their combined effect might be deleterious for the protein. The 'raw' accuracy of MutationTaster is about 90%, with the inclusion of knowledge about common (harmless) polymorphisms and known disease mutations, the actual rate of correct classifications is much higher.
Development of MutationTaster has started in 2007, the software is available online since 2009. MutationTaster is hosted at the Charité Berlin and its current developers are Daniela Hombach, Markus Schülke, Jana Marie Schwarz, Dominik Seelow.