MutationTaster statistics

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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 citations


Mutations in six nephrosis genes delineate a pathogenic pathway amenable to treatment

Nat Commun
PMCID: 5958119
PMID: 29773874
DOI: 10.1038/s41467-018-04193-w

[…] equencies for all the identified mutations in the Exome Aggregation Consortium (ExaC) and the genome aggregation database (GnomAD) along with their prediction scores using Mutation Taster ( and Polyphen 2 ( in silico tools. As a negative control, we performed screening for all variants that we detected in the pTSNS patients in an […]


Association of IL17RC and COL6A1 genetic polymorphisms with susceptibility to ossification of the thoracic posterior longitudinal ligament in Chinese patients

PMCID: 5952594
PMID: 29764467
DOI: 10.1186/s13018-018-0817-y

[…] enome sequencing (WGS) study of 30 unrelated northern Chinese Han patients, four different algorithms [including SIFT( [], PolyPhen-2 ( [], MutationTaster ( [], and GERP++ ( []] were used to predict deleterious variations at different SNP loci. We found tha […]


Case Report: Identification of an HNF1B p.Arg527Gln mutation in a Maltese patient with atypical early onset diabetes and diabetic nephropathy

PMCID: 5952643
PMID: 29764441
DOI: 10.1186/s12902-018-0257-z
call_split See protocol

[…] analysis. Missense variants were evaluated for functional impact using a variety of in-silico prediction tools including SIFT [], Polyphen2 [], MelaLR [], MetaSVN [], fathmm-MKL [], DANN [], CADD [], MutationTaster [], Mutation Assesser [] and LRT []. […]


Copy number variants implicate cardiac function and development pathways in earthquake induced stress cardiomyopathy

Sci Rep
PMCID: 5954162
PMID: 29765130
DOI: 10.1038/s41598-018-25827-5

[…] HaplotypeCaller. This included de novo assembly at each potential variant locus. Variants were annotated and analysed using Ingenuity Variant Analysis (IVA) software (QIAGEN, Redwood City, CA, USA), MutationTaster2, SnpEff, SeattleSeq annotation server, and Galaxy (via Allele frequencies and additional annotations were drawn from 1000 Genomes project, NHLBI GO Exome Sequencing Pro […]


A case of Raine syndrome presenting with facial dysmorphy and review of literature

BMC Med Genet
PMCID: 5948820
PMID: 29751744
DOI: 10.1186/s12881-018-0593-x

[…] al diagnosis of RS (OMIM # 259775).The functional effect of this variant was studied using the in silico analysis tools. The variant was predicted to be disease-causing by Mutation Taster (, with a score of 58. The impact of the substitution of serine to threonine was predicted to be probably damaging (score of 0.972) by Polyphen2 (PolymorphismPhenotypingV2) (http:// […]


Next generation sequencing reveals a new mutation in the LTBP2 gene associated with microspherophakia in a Spanish family

BMC Med Genet
PMCID: 5948732
PMID: 29751740
DOI: 10.1186/s12881-018-0590-0
call_split See protocol

[…] This software uses the following relevant prediction tools: i) Splice Site Finder-like, MaxEntScan, NNSPLICE, GeneSplicer, Human Splicing Finder and ESE for splicing prediction ii) Align GVGD, SIFT, MutationTaster, PolyPhen-2 and KD4v for missense prediction.To check all the variants detected in this study the ExAc, the 1000 Genomes Project and the CSVS (Collaborative Spanish Variant Server) data […]


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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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Anonymous user #6211's avatar image No country

Anonymous user #6211

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Great online tool for predicting variant effects!