title: NECTAR: a database of codon-centric missense variant annotations.
abstract: NECTAR (Non-synonymous Enriched Coding muTation ARchive; http://nectarmutation.org) is a database and web application to annotate disease-related and functionally important amino acids in human proteins. A number of tools are available to facilitate the interpretation of DNA variants identified in diagnostic or research sequencing. These typically identify previous reports of DNA variation at a given genomic location, predict its effects on transcript and protein sequence and may predict downstream functional consequences. Previous reports and functional annotations are typically linked by the genomic location of the variant observed. NECTAR collates disease-causing variants and functionally important amino acid residues from a number of sources. Importantly, rather than simply linking annotations by a shared genomic location, NECTAR annotates variants of interest with details of previously reported variation affecting the same codon. This provides a much richer data set for the interpretation of a novel DNA variant. NECTAR also identifies functionally equivalent amino acid residues in evolutionarily related proteins (paralogues) and, where appropriate, transfers annotations between them. As well as accessing these data through a web interface, users can upload batches of variants in variant call format (VCF) for annotation on-the-fly. The database is freely available to download from the ftp site: ftp://ftp.nectarmutation.org.
authors.affiliation: NIHR Cardiovascular Biomedical Research Unit, Royal Brompton and Harefield NHS Foundation Trust and Imperial College London, London SW3 6NP, UK, National Heart and Lung Institute, Imperial College, London SW3 6LY, UK, National Heart Centre Singapore, Singapore 168752, Singapore and Cardiovascular & Metabolic Disorders, Duke National University of Singapore, Singapore 169857, Singapore.
authors.forename: Sungsam
authors.initials: S
authors.lastname: Gong
authors.forename: James S
authors.initials: JS
authors.lastname: Ware
authors.forename: Roddy
authors.initials: R
authors.lastname: Walsh
authors.forename: Stuart A
authors.initials: SA
authors.lastname: Cook
mesh_terms: D019943:Amino Acid Substitution; D003062:Codon; D030561:Databases, Nucleic Acid; D004194:Disease / Q000235:genetics; D006801:Humans; D020407:Internet; D058977:Molecular Sequence Annotation; D020125:Mutation, Missense
chemical_list: D003062:Codon