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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...

Topics

Computational Biology
Databases, Genetic
Humans
Internet
Mutation, Missense
Polymorphism, Single Nucleotide
Protein Conformation
Proteins
Search Engine
Software

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 23315928
DOI: 10.1002/0471142905.hg0720s76
PMCID: PMC4480630

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