MutPred statistics

Tool stats & trends

Looking to identify usage trends or leading experts?

Protocols

MutPred specifications

Information


Unique identifier OMICS_00154
Name MutPred
Interface Web user interface
Restrictions to use None
Computer skills Basic
Stability Stable
Maintained Yes

Taxon


  • Primates
    • Homo sapiens

Publication for MutPred

MutPred citations

 (81)
library_books

Delineation of the genetic and clinical spectrum of Phelan McDermid syndrome caused by SHANK3 point mutations

2018
Mol Autism
PMCID: 5921983
PMID: 29719671
DOI: 10.1186/s13229-018-0205-9

[…] nt Server (EVS) and gnomAD. The missense mutation in S14 (p.Asp1672Tyr) affects a highly conserved residue and is predicted to be damaging by all algorithms used, including Polyphen-2, SIFT, PANTHER, MutPred2, Condel2, CADD, and M-CAP (Additional file : Table S3).Fig. 1We also searched the literature and ClinVar for SHANK3 mutations and assessed their pathogenicity. Variants listed in Additional f […]

library_books

Canine NAPEPLD associated models of human myelin disorders

2018
Sci Rep
PMCID: 5895582
PMID: 29643404
DOI: 10.1038/s41598-018-23938-7

[…] in vertebrates including the zebrafish (Fig. ). Software-based analysis of the NAPEPLD amino acid exchange characterized the variant as probably damaging (PolyPhen 2), deleterious (SIFT), pathogenic (MutPred2) or disease causing (Mutation Taster). An mRNA-seq experiment on a spinal cord sample of a LEMP-affected Leonberger was carried out and revealed no evidence for alternative splicing of NAPEPL […]

call_split

GATA4 Variants in Individuals With a 46,XY Disorder of Sex Development (DSD) May or May Not Be Associated With Cardiac Defects Depending on Second Hits in Other DSD Genes

2018
PMCID: 5893726
PMID: 29670578
DOI: 10.3389/fendo.2018.00142
call_split See protocol

[…] ce.Identified GATA4 sequence variants were then evaluated for their possible functional significance in silico using prediction software programs, including SIFT, Provean, PolyPhen-2, MutationTaster, MutPred, and SNPs&GO.In all three cases, the involved clinician informed the patient about the genetic results, including information on pathogenic, probably pathogenic, and uncertain findings with re […]

library_books

Somatic Mitochondrial DNA Mutations in Diffuse Large B Cell Lymphoma

2018
Sci Rep
PMCID: 5827201
PMID: 29483551
DOI: 10.1038/s41598-018-21844-6

[…] s (27%, 15%, 58%), which was notably skewed toward changes in the third (wobble) position, in which changes are mostly synonymous. Pathogenicity scores were obtained for non-synonymous variants using Mutpred: Somatic mutations had a higher median pathogenicity score (0.72, on a scale of 0–1) than private constitutional variants (0.49). Sequence depth, VAF, GenBank frequency, variant distribution, […]

library_books

Severe bleeding complications and multiple kidney transplants in a patient with tuberous sclerosis complex caused by a novel TSC2 missense variant

2017
PMCID: 5778681
PMID: 29308833
DOI: 10.3325/cmj.2017.58.416

[…] thms of PolyPhen-2, Sorts Intolerant From Tolerant (SIFT), Align-Grantham Variation Grantham Deviation (Align-GVGD), MutationTaster, Single Nucleotide Polymorphism Database & Gene Ontology (SNPs&GO), MutPred, MutationAssessor, and Functional Analysis Through Hidden Markov Models (FATHMM) were applied. For the detection of genomic deletions and duplications, a quantitative analysis of all 23 TSC1 e […]

library_books

Evaluation of in silico algorithms for use with ACMG/AMP clinical variant interpretation guidelines

2017
Genome Biol
PMCID: 5704597
PMID: 29179779
DOI: 10.1186/s13059-017-1353-5

[…] All Fields] OR METASVM[ALL FIELDS] OR METALR[ALL FIELDS] OR CONDEL[ALL FIELDS] OR CADD[ALL FIELDS] OR MUTATIONASSESSOR[ALL FIELDS] OR PROVEAN[ALL FIELDS] OR FATHMM[ALL FIELDS] OR EIGEN[ALL FIELDS] OR MUTPRED[ALL FIELDS] OR “REVEL”[ALL FIELDS] OR DANN[All Fields] OR LRT[All Fields] OR MUTATIONTASTER[All Fields] OR GERP[All Fields] OR VEST3[All Fields] OR Genocanyon[All Fields] OR fitcons[All Fields […]

Citations

Looking to check out a full list of citations?

MutPred institution(s)
School of Informatics and Computing, Indiana University, Bloomington, IN, Novato, CA, USA
MutPred funding source(s)
National Institutes of Health R01LM009722; National Science Foundation DBI-0644017

MutPred reviews

star_border star_border star_border star_border star_border
star star star star star

Be the first to review MutPred