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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

 (26)
library_books

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

2017
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 […]

library_books

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

2017
Genes
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 (http://mutpred.mutdb.org/) and MutationTaster (www.mutationtaster.org), and received a Combined Annotation Dependent Depletion (CADD) score of 16.5 (http://cadd.gs.washington.edu/) ().Next, we searched for genetic v […]

library_books

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

2017
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 (mutpred.mutdb.org/), SNPs&Go (snps-and-go.biocomp.unibo.it/snps-and-go/), MutationTaster (mutationtaster.org/), and CADD tool. We also used the HomoloGene database (ncbi.nlm.nih.gov/homologene/) to examine th […]

library_books

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

2017
Sci Rep
PMCID: 5529537
PMID: 28747718
DOI: 10.1038/s41598-017-06575-4

[…] MutPred (http://mutpred.mutdb.org/) 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 […]

library_books

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

2016
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 (http://mutdb.org/mutpredsplice/submit.htm) and NetGene2 (http://www.cbs.dtu.dk/services/NetGene2) [, ]. […]

call_split

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

2016
PMCID: 4867568
PMID: 27247962
DOI: 10.1002/mgg3.209
call_split See protocol

[…] //browser.1000genomes.org/index.html), Exome Variant Server (http://evs.gs.washington.edu/EVS/) and ExAC Browser (http://exac.broadinstitute.org)) and in silico analyses using MutPred (http://mutpred.mutdb.org), PredictSNP (http://loschmidt.chemi.muni.cz/predictsnp), SNPs&GO (http://snps-and-go.biocomp.unibo.it/snps-and-go/), PolyPhen‐2 (http://genetics.bwh.harvard.edu/pph2/) and Provean (http://p […]

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