Nucleic Acids Research · 2003 · 6.9K citations · 14 references
Life SciencesBioinformaticsGeneticsComputational BiologyGenomic Data AnalysisGenomicsFunctional GenomicsGenomic PredictionMutation AnalysisMutation ScreeningProtein Function AnnotationVariant AnalysisAmino Acid ReplacementAmino Acid SubstitutionAmino Acid Substitution EffectsComputational MutagenesisMutation Effect PredictionProtein Mutation Effect PredictionRandom MutagenesisSnp Discovery
SNP studies and random mutagenesis identify amino acid substitutions in protein‑coding regions, each of which can affect protein function. SIFT predicts whether an amino acid substitution affects protein function so users can prioritize variants for further study. SIFT implements this prediction as a computational program that evaluates evolutionary conservation of residues. SIFT accurately distinguishes neutral from deleterious amino acid changes in both mutagenesis experiments and human polymorphisms. SIFT is available at http://blocks.fhcrc.org/sift/SIFT.html.
Single nucleotide polymorphism (SNP) studies and random mutagenesis projects identify amino acid substitutions in protein-coding regions. Each substitution has the potential to affect protein function. SIFT (Sorting Intolerant From Tolerant) is a program that predicts whether an amino acid substitution affects protein function so that users can prioritize substitutions for further study. We have shown that SIFT can distinguish between functionally neutral and deleterious amino acid changes in mutagenesis studies and on human polymorphisms. SIFT is available at http://blocks.fhcrc.org/sift/SIFT.html.
14
dbSNP: the NCBI database of genetic variation
Stephen T. Sherry · Nucleic Acids Research · 2001 · 7.8K citations · Full text
Predicting Deleterious Amino Acid Substitutions
Pauline C. Ng, Steven Henikoff · Genome Research · 2001 · 2.7K citations · Full text