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MSV3d specifications

Information


Unique identifier OMICS_07152
Name MSV3d
Alternative name Database of human MisSense Variants mapped to 3D protein structure
Restrictions to use None
Maintained No

Taxon


  • Primates
    • Homo sapiens

Publication for Database of human MisSense Variants mapped to 3D protein structure

MSV3d citations

 (4)
library_books

Phenotypic and molecular analyses of primary lateral sclerosis

2015
PMCID: 4821084
PMID: 27066542
DOI: 10.1212/01.NXG.0000464294.88607.dd

[…] ped by the LPGM. This software relies on allele frequency and functional prediction data from multiple publicly available databases, including ClinVar, 1000 Genomes Project, Exome Variant Server, and MSV3D., Pathogenic mutations were confirmed by Sanger sequencing. […]

library_books

An association adjusted consensus deleterious scheme to classify homozygous Mis sense mutations for personal genome interpretation

2013
BioData Min
PMCID: 3892026
PMID: 24365473
DOI: 10.1186/1756-0381-6-24

[…] Evidence for association of each SNP or gene with diseases or traits was obtained from public repositories of amino acid polymorphisms (MSV3d, July 2012 release [] and SwissVar, accessed December 2012) [], from Online Mendelian Inheritance in Man (OMIM) [], and from the NHGRI genome wide association studies (GWAS) [] catalog. Initiall […]

library_books

Knowledge Discovery in Variant Databases Using Inductive Logic Programming

2013
Bioinform Biol Insights
PMCID: 3615990
PMID: 23589683
DOI: 10.4137/BBI.S11184

[…] night blindness).,In this paper, we describe a study dedicated to the impact of mutations on protein function in the context of human monogenetic diseases. We extracted background knowledge from the MSV3d annotated mutation database, which integrates a large number of human mutations and phenotypes. We then applied ILP and a clustering analysis to learn a set of rules that can be easily interpret […]

library_books

KD4v: comprehensible knowledge discovery system for missense variant

2012
Nucleic Acids Res
PMCID: 3394327
PMID: 22641855
DOI: 10.1093/nar/gks474

[…] The nsSNPs observed in all human proteins were annotated by the MSV3d pipeline, which automatically performs a sequence/structure/evolution analysis and has been shown to be robust and efficient (,). This includes various parameters which describe, among others, t […]


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MSV3d institution(s)
Laboratoire de Bioinformatique et Génomique Intégratives, Institut de Génétique et de Biologie Moléculaire et Cellulaire (UMR7104), Illkirch, France

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