MutationTaster protocols

MutationTaster specifications


Unique identifier OMICS_00153
Name MutationTaster
Alternative name MutationTaster2
Interface Web user interface
Restrictions to use None
Input data Some coding sequence (ORF), gene (genomic sequence), and transcript (cDNA sequence).
Computer skills Basic
Version 2.0
Stability Stable
Maintained Yes


  • person_outline Dominik Seelow <>

Additional information

Publications for MutationTaster

MutationTaster IN pipelines

PMCID: 5412354
PMID: 28379183
DOI: 10.3390/ijms18040770

[…] by allele frequency to exclude variants with allele frequency ≥0.05 in the 1000 genome project and exome aggregation consortium (exac) database, three exonic or splice-site variants remained. mutationtaster identified 209 analysable alterations (some variants mapped to more than one transcript) and three variants were predicted to be disease-causing. only one variant was predicted […]

PMCID: 5455050
PMID: 28524840
DOI: 10.4103/0366-6999.206348

[…] in this patient. this mutation was not found in the patient's parents and 100 unrelated healthy individuals. functional assessment of this mutation was assessed using mutation taser ( the mutation was predicted to cause the 96th amino acid of the gata3, tryptophan, to be substituted by glycine, resulting in a frameshift (p.w96gfs*99) mutation that yielded […]

PMCID: 4858276
PMID: 27149063
DOI: 10.1371/journal.pone.0153788

[…] southern finland. nine intronic and six missense variants were identified (table 1). the c.541c>t, p.(arg181trp), missense change was the only variant that was predicted to be pathogenic by both mutationtaster and pon-p software and was selected for further genotyping. based on finnish subjects in the exac dataset, the minor-allele frequency (maf) for the c.541c>t variant is estimated […]

PMCID: 5030307
PMID: 27708560
DOI: 10.3389/fnins.2016.00428

[…] exon 1 (table 2). the five confirmed variants were ranked within the top six potentially etiologically relevant variants by our variant ranker algorithm and were all predicted to be deleterious by mutationtaster functional prediction algorithm (schwarz et al., 2010; table s2). one confirmed slitrk1 variant (rs146746846) was also identified by vaast under a recessive model of inheritance (table […]

PMCID: 4450850
PMID: 26031516
DOI: 10.1186/s12967-015-0525-x

[…] (islet cell autoantigen 1, 69 kda) respectively were also identified as part of our list of candidate autoimmune causing mutations. both of these variants are considered as ‘disease causing’ by the mutationtaster algorithm [21, 22]. after implementing igv, it was found that the ica1 homozygous variant was located in an adenosine rich region, proximal to the 3′utr of the mrna sequence in one […]

MutationTaster institution(s)
Department of Neuropediatrics, Charité - Universitätsmedizin Berlin, Berlin, Germany; NeuroCure Clinical Research Center, Charité - Universitätsmedizin Berlin, Berlin, Germany; Institute of Medical Genetics, Cardiff University, Cardiff, UK
MutationTaster funding source(s)
Supported by grants from the Deutsche Forschungsgemeinschaft (SFB665 TP-C4), the Einsteinstiftung Berlin (A-2011-63) and the German Bundesministerium für Bildung und Forschung (mitoNET 01GM1113D).

MutationTaster review

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Daniel Webber

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Great online tool for predicting variant effects!