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old version at http://genetics.bwh.harvard.edu/pph/


  • 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


  • 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.
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