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MutDB specifications


Unique identifier OMICS_26252
Name MutDB
Restrictions to use None
Community driven No
Data access Browse
User data submission Not allowed
Maintained Yes

MutDB citations


Mapping genetic variations to three dimensional protein structures to enhance variant interpretation: a proposed framework

Genome Med
PMCID: 5735928
PMID: 29254494
DOI: 10.1186/s13073-017-0509-y

[…] connections between genetic variations and protein structure are not always easy to find. A few computational tools have begun to emerge (cBioPortal [], COSMIC-3D [], CRAVAT [], Jalview [], MuPIT [], MutDB [], STRUM [], Cancer3D []) that enable users to take individual genetic variations, or a list of them, and visualize these in the context of protein structures. For example, CRAVAT [] allows a u […]


Functional Characterization of Rare RAB12 Variants and Their Role in Musician’s and Other Dystonias

PMCID: 5664126
PMID: 29057844
DOI: 10.3390/genes8100276

[…] and has been reported in GnomAD in the heterozygous state only with a frequency of 0.0003. The p.Ile196Val substitution is highly conserved (b) and predicted to be damaging by MutPred ( and MutationTaster (, and received a Combined Annotation Dependent Depletion (CADD) score of 16.5 ( ().Next, we searched for genetic v […]


Whole exome sequencing associates novel CSMD1 gene mutations with familial Parkinson disease

PMCID: 5540655
PMID: 28808687
DOI: 10.1212/NXG.0000000000000177

[…] nomic variations with very low frequency were prioritized in follow-up analyses.The pathogenicity of the identified mutations was predicted using the following computational methods: MutPred (, SNPs&Go (, MutationTaster (, and CADD tool. We also used the HomoloGene database ( to examine th […]


Predicting the functional consequences of non synonymous single nucleotide polymorphisms in IL8 gene

Sci Rep
PMCID: 5529537
PMID: 28747718
DOI: 10.1038/s41598-017-06575-4

[…] MutPred ( is an online server for prediction of molecular basis of the disease related amino acid substitution in a mutant protein. It utilizes several attributes related to protein structure, funct […]


Identification of Potentially Pathogenic Variants in the Posterior Polymorphous Corneal Dystrophy 1 Locus

PLoS One
PMCID: 4927100
PMID: 27355326
DOI: 10.1371/journal.pone.0158467

[…] es within transcription factor binding sites []. A threshold cutoff score of ≥ 75% was used. In addition, cryptic splice site prediction for synonymous SNVs was performed using MutPred Splice ( and NetGene2 ( [, ]. […]


Rothmund–Thomson Syndrome: novel pathogenic mutations and frequencies of variants in the RECQL4 and USB1 (C16orf57) gene

PMCID: 4867568
PMID: 27247962
DOI: 10.1002/mgg3.209
call_split See protocol

[…] //, Exome Variant Server ( and ExAC Browser ( and in silico analyses using MutPred (, PredictSNP (, SNPs&GO (, PolyPhen‐2 ( and Provean (http://p […]


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