POLYPHEN

Record added by Jurg Ott (the original Rockefeller list)

Full Name

POLYmorphism PHENotyping

Description

PolyPhen-2 is a tool which predicts possible impact of an amino acid substitution on the structure and function of a human protein using straightforward physical and comparative considerations. It can be used in prioritize functional SNPs in a genetic study.

URL

Reference

  • Sunyaev, Eisenhaber, Rodchenkov, Eisenhaber, Tumanyan, Kuznetsov (1999), “PSIC: profile extraction from sequence alignments with position-specific counts of independent observations”, Protein Engineering, 12:387-394.

  • Ramensky, Bork, Sunyaev (2002), “Human non-synonymous SNPs: server and survey”, Nucleic Acids Research, 30:3894-3900.

  • Adzhubei, Schmidt, Peshkin, Ramensky, Gerasimova, Bork, Kondrashov, Sunyaev (2010), “A method and server for predicting damaging missense mutations”, Nature Methods, 7:248-249.