PMut Data Repository
Names
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PMut Data Repository
metasource: Fairsharing.org
version: FAIRsharing.org: PMutData; PMut Data Repository; DOI: https://doi.org/10.25504/FAIRsharing.tv6fxt; Last edited: Jan. 8, 2019, 1:24 p.m.; Last accessed: Jan 03 2022 7:08 p.m.
PMutData
metasource: Fairsharing.org
version: FAIRsharing.org: PMutData; PMut Data Repository; DOI: https://doi.org/10.25504/FAIRsharing.tv6fxt; Last edited: Jan. 8, 2019, 1:24 p.m.; Last accessed: Jan 03 2022 7:08 p.m.
Names
More detailed information about this field from each metasource.
PMut Data Repository
metasource: Fairsharing.orgversion: FAIRsharing.org: PMutData; PMut Data Repository; DOI: https://doi.org/10.25504/FAIRsharing.tv6fxt; Last edited: Jan. 8, 2019, 1:24 p.m.; Last accessed: Jan 03 2022 7:08 p.m.
PMutData
metasource: Fairsharing.orgversion: FAIRsharing.org: PMutData; PMut Data Repository; DOI: https://doi.org/10.25504/FAIRsharing.tv6fxt; Last edited: Jan. 8, 2019, 1:24 p.m.; Last accessed: Jan 03 2022 7:08 p.m.
Names
More detailed information about this field from each metasource.
PMut Data Repository
metasource: Fairsharing.orgversion: FAIRsharing.org: PMutData; PMut Data Repository; DOI: https://doi.org/10.25504/FAIRsharing.tv6fxt; Last edited: Jan. 8, 2019, 1:24 p.m.; Last accessed: Jan 03 2022 7:08 p.m.
PMutData
metasource: Fairsharing.orgversion: FAIRsharing.org: PMutData; PMut Data Repository; DOI: https://doi.org/10.25504/FAIRsharing.tv6fxt; Last edited: Jan. 8, 2019, 1:24 p.m.; Last accessed: Jan 03 2022 7:08 p.m.
PMut Data Repository collects predictions of the pathological effect of all possible single amino acid variants on Uniref Human protein sequences. Predictions were prepared using PMut 2017 predictor (2017 version).
Description
More detailed information about this field from each metasource.
PMut Data Repository collects predictions of the pathological effect of all possible single amino acid variants on Uniref Human protein sequences. Predictions were prepared using PMut 2017 predictor (2017 version).
metasource: Fairsharing.orgversion: FAIRsharing.org: PMutData; PMut Data Repository; DOI: https://doi.org/10.25504/FAIRsharing.tv6fxt; Last edited: Jan. 8, 2019, 1:24 p.m.; Last accessed: Jan 03 2022 7:08 p.m.
Webpage:
http://mmb.irbbarcelona.org/PMut/repositoryWebpage
More detailed information about this field from each metasource.
http://mmb.irbbarcelona.org/PMut/repository
metasource: Fairsharing.orgversion: FAIRsharing.org: PMutData; PMut Data Repository; DOI: https://doi.org/10.25504/FAIRsharing.tv6fxt; Last edited: Jan. 8, 2019, 1:24 p.m.; Last accessed: Jan 03 2022 7:08 p.m.
Publications:
Publications
More detailed information about this field from each metasource.
PMut: a web-based tool for the annotation of pathological variants on proteins, 2017 update
PMID: 28453649
metasource: Fairsharing.org
version: FAIRsharing.org: PMutData; PMut Data Repository; DOI: https://doi.org/10.25504/FAIRsharing.tv6fxt; Last edited: Jan. 8, 2019, 1:24 p.m.; Last accessed: Jan 03 2022 7:08 p.m.
Publications
More detailed information about this field from each metasource.
PMut: a web-based tool for the annotation of pathological variants on proteins, 2017 update
PMID: 28453649
metasource: Fairsharing.org
version: FAIRsharing.org: PMutData; PMut Data Repository; DOI: https://doi.org/10.25504/FAIRsharing.tv6fxt; Last edited: Jan. 8, 2019, 1:24 p.m.; Last accessed: Jan 03 2022 7:08 p.m.
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PMut: a web-based tool for the annotation of pathological variants on proteins, 2017 update
PubMed citations: 45.
45 articles citing: PMut: a web-based tool for the annotation of pathological variants on proteins, 2017 update
In-Silico Analysis of Deleterious SNPs of FGF4 Gene and Their Impacts on Protein Structure, Function and Bladder Cancer Prognosis. PMID:35888106
A Comprehensive Evaluation of the Performance of Prediction Algorithms on Clinically Relevant Missense Variants. PMID:35887294
In silico comprehensive analysis of coding and non-coding SNPs in human mTOR protein. PMID:35788771
In silico identification of the rare-coding pathogenic mutations and structural modeling of human NNAT gene associated with anorexia nervosa. PMID:35655118
Comparative analysis of web-based programs for single amino acid substitutions in proteins. PMID:35507592
Contiguously hydrophobic sequences are functionally significant throughout the human exome. PMID:35294280
Functional and structural analysis of non-synonymous single nucleotide polymorphisms (nsSNPs) in the MYB oncoproteins associated with human cancer. PMID:34921182
Impact of Deleterious Mutations on Structure, Function and Stability of Serum/Glucocorticoid Regulated Kinase 1: A Gene to Diseases Correlation. PMID:34805284
A computational in silico approach to predict high-risk coding and non-coding SNPs of human PLCG1 gene. PMID:34793541
Mutational Landscape Screening Through Comprehensive In Silico Analysis for Polycystic Ovarian Syndrome-Related Genes. PMID:34697776
Computational Analysis of Missense Variants in the Human Transmembrane Protease Serine 2 (TMPRSS2) and SARS-CoV-2. PMID:34692848
Identification of Rare LRP5 Variants in a Cohort of Males with Impaired Bone Mass. PMID:34639175
Molecular dynamics and protein frustration analysis of human fused in Sarcoma protein variants in Amyotrophic Lateral Sclerosis type 6: An In Silico approach. PMID:34587215
Fucosidosis in Tunisian patients: mutational analysis and homology-based modeling of FUCA1 enzyme. PMID:34425818
Towards a New, Endophenotype-Based Strategy for Pathogenicity Prediction in BRCA1 and BRCA2: In Silico Modeling of the Outcome of HDR/SGE Assays for Missense Variants. PMID:34207612
Computational Studies of the Structural Basis of Human RPS19 Mutations Associated With Diamond-Blackfan Anemia. PMID:34108988
Structure analysis of deleterious nsSNPs in human PALB2 protein for functional inference. PMID:34092963
Structural genomics approach to investigate deleterious impact of nsSNPs in conserved telomere maintenance component 1. PMID:33986331
Molecular characterisation of rare loss-of-function NPAS3 and NPAS4 variants identified in individuals with neurodevelopmental disorders. PMID:33758288
Computational Analysis Indicates That PARP1 Acts as a Histone Deacetylases Interactor Sharing Common Lysine Residues for Acetylation, Ubiquitination, and SUMOylation in Alzheimer's and Parkinson's Disease. PMID:33681613
Transcription-translation error: In-silico investigation of the structural and functional impact of deleterious single nucleotide polymorphisms in GULP1 gene. PMID:33665355
Novel SCN5A variants identified in a group of Iranian Brugada syndrome patients. PMID:33641026
Long-QT founder variant T309I-Kv7.1 with dominant negative pattern may predispose delayed afterdepolarizations under β-adrenergic stimulation. PMID:33574382
Molecular dynamics, residue network analysis, and cross-correlation matrix to characterize the deleterious missense mutations in GALE causing galactosemia III. PMID:33555556
Peroxisome proliferator-activated receptor α as a novel therapeutic target for schizophrenia. PMID:33279456
Refinement of coding SNPs in the human aryl hydrocarbon receptor gene using ISNPranker: An integrative-SNP ranking web-tool. PMID:33264727
Investigating the structural impacts of a novel missense variant identified with whole exome sequencing in an Egyptian patient with propionic acidemia. PMID:32995289
Informing patients about their mutation tests: CDKN2A c.256G>A in melanoma as an example. PMID:32760473
IDRMutPred: predicting disease-associated germline nonsynonymous single nucleotide variants (nsSNVs) in intrinsically disordered regions. PMID:32756939
YARS2 Missense Variant in Belgian Shepherd Dogs with Cardiomyopathy and Juvenile Mortality. PMID:32183361
In silico analysis of non-synonymous single nucleotide polymorphisms (nsSNPs) in the human GJA3 gene associated with congenital cataract. PMID:32143568
Prediction of impacts of mutations on protein structure and interactions: SDM, a statistical approach, and mCSM, using machine learning. PMID:31693276
In Silico Genetics Revealing 5 Mutations in CEBPA Gene Associated With Acute Myeloid Leukemia. PMID:31621694
Utility of In Vitro Mutagenesis of RPE65 Protein for Verification of Mutational Pathogenicity Before Gene Therapy. PMID:31580392
Glycogen storage diseases: Twenty-seven new variants in a cohort of 125 patients. PMID:31508908
VIPdb, a genetic Variant Impact Predictor Database. PMID:31283070
A novel ISCA2 variant responsible for an early-onset neurodegenerative mitochondrial disorder: a case report of multiple mitochondrial dysfunctions syndrome 4. PMID:31279336
Novel Deleterious nsSNPs within MEFV Gene that Could Be Used as Diagnostic Markers to Predict Hereditary Familial Mediterranean Fever: Using Bioinformatics Analysis. PMID:31275371
In silico analysis of PFN1 related to amyotrophic lateral sclerosis. PMID:31216283
Fitness of unregulated human Ras mutants modeled by implementing computational mutagenesis and machine learning techniques. PMID:31211262
BRCA1- and BRCA2-specific in silico tools for variant interpretation in the CAGI 5 ENIGMA challenge. PMID:31112341
In silico analysis of the V66M variant of human BDNF in psychiatric disorders: An approach to precision medicine. PMID:30998730
Genotype-phenotype relations of the von Hippel-Lindau tumor suppressor inferred from a large-scale analysis of disease mutations and interactors. PMID:30943211
Structural and Computational Characterization of Disease-Related Mutations Involved in Protein-Protein Interfaces. PMID:30934865
Loss of tubulin deglutamylase CCP1 causes infantile-onset neurodegeneration. PMID:30420557
Tags:
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computational predictions
metasource: Fairsharing.org
version: FAIRsharing.org: PMutData; PMut Data Repository; DOI: https://doi.org/10.25504/FAIRsharing.tv6fxt; Last edited: Jan. 8, 2019, 1:24 p.m.; Last accessed: Jan 03 2022 7:08 p.m.
genetic polymorphism
metasource: Fairsharing.org
version: FAIRsharing.org: PMutData; PMut Data Repository; DOI: https://doi.org/10.25504/FAIRsharing.tv6fxt; Last edited: Jan. 8, 2019, 1:24 p.m.; Last accessed: Jan 03 2022 7:08 p.m.
genome annotation
metasource: Fairsharing.org
version: FAIRsharing.org: PMutData; PMut Data Repository; DOI: https://doi.org/10.25504/FAIRsharing.tv6fxt; Last edited: Jan. 8, 2019, 1:24 p.m.; Last accessed: Jan 03 2022 7:08 p.m.
Tags
More detailed information about this field from each metasource.
computational predictions
metasource: Fairsharing.orgversion: FAIRsharing.org: PMutData; PMut Data Repository; DOI: https://doi.org/10.25504/FAIRsharing.tv6fxt; Last edited: Jan. 8, 2019, 1:24 p.m.; Last accessed: Jan 03 2022 7:08 p.m.
genetic polymorphism
metasource: Fairsharing.orgversion: FAIRsharing.org: PMutData; PMut Data Repository; DOI: https://doi.org/10.25504/FAIRsharing.tv6fxt; Last edited: Jan. 8, 2019, 1:24 p.m.; Last accessed: Jan 03 2022 7:08 p.m.
genome annotation
metasource: Fairsharing.orgversion: FAIRsharing.org: PMutData; PMut Data Repository; DOI: https://doi.org/10.25504/FAIRsharing.tv6fxt; Last edited: Jan. 8, 2019, 1:24 p.m.; Last accessed: Jan 03 2022 7:08 p.m.
computational predictions polymorphism genome annotation
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