From input of non-synonymous single nucleotide polymorphism (SNP), this tool uses analysis of multiple sequence alignments and protein stuctures to predict, annotate, and visualize SNP features. PolyPhen-2 is further development of PolyPhen.
Biology, Genetics, DNA polymorphism
Adzhubei IA, Schmidt S, Peshkin L, Ramensky VE, Gerasimova A, Bork P, Kondrashov AS, Sunyaev SR. "A method and server for predicting damaging missense mutations." Nat Methods. 2010 Apr;7(4):248-9. doi: 10.1038/nmeth0410-248. https://doi.org/10.1038/nmeth0410-248
PMID: 20354512
PMCID: PMC2855889
Adzhubei I, Jordan DM, Sunyaev SR. "Predicting functional effect of human missense mutations using PolyPhen-2." Curr Protoc Hum Genet. 2013 Jan;Chapter 7:Unit7.20. doi: 10.1002/0471142905.hg0720s76. https://doi.org/10.1002/0471142905.hg0720s76
PMID: 23315928
PMCID: PMC4480630
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