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 ann

SUBMITTER: Gong S 

PROVIDER: S-EPMC3965063 | biostudies-literature | 2014 Jan

REPOSITORIES: biostudies-literature