RRedon:Protocols/Polyphen
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http://genetics.bwh.harvard.edu/pph2/
old version at http://genetics.bwh.harvard.edu/pph/
HumDiv
- 3,155 damaging alleles annotated in the UniProt database as causing human Mendelian diseases and affecting protein stability or function
- 6,321 differences between human proteins and their closely related mammalian homologs, assumed to be nondamaging
HumVar3
- 13,032 human disease-causing mutations from UniProt
- 8,946 human nonsynonymous single-nucleotide polymorphisms (nsSNPs) without annotated involvement in disease which we treated as nondamaging.