Article
Predicting functional effect of human missense mutations using PolyPhen-2.
Current protocols in human genetics - 1 Jan 2013
Adzhubei Ivan, Jordan Daniel M, Sunyaev Shamil R
Abstract excerpt
PolyPhen-2 (Polymorphism Phenotyping v2), available as software and via a Web server, predicts the possible impact of amino acid substitutions on the stability and function of human proteins using structural and comparative evolutionary considerations. It performs functional annotation of single-nucleotide polymorphisms (SNPs), maps coding SNPs to gene transcripts, extracts protein sequence annotations and...
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