SIFT: predicting amino acid changes that affect protein function
Pauline C. Ng,Steven Henikoff +1 more
TLDR
SIFT is a program that predicts whether an amino acid substitution affects protein function so that users can prioritize substitutions for further study and can distinguish between functionally neutral and deleterious amino acid changes in mutagenesis studies and on human polymorphisms.Abstract:
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.read more
Citations
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Effect of mutation type and location on clinical outcome in 1,013 probands with marfan syndrome or related phenotypes and FBN1 mutations : An international study
Laurence Faivre,Gwenaëlle Collod-Béroud,Gwenaëlle Collod-Béroud,Bart Loeys,Anne H. Child,Christine Binquet,Elodie Gautier,Bert Callewaert,Eloisa Arbustini,Kenneth H. Mayer,Mine Arslan-Kirchner,A Kiotsekoglou,P Comeglio,Nicola Marziliano,Hal Dietz,Dorothy Halliday,Christophe Béroud,Christophe Béroud,Claire Bonithon-Kopp,Mireille Claustres,Christine Muti,H. Plauchu,Peter N. Robinson,Lesley C. Adès,Andrew Biggin,B. Benetts,Maggie Brett,Katherine Holman,J. De Backer,Paul Coucke,Uta Francke,A. De Paepe,Guillaume Jondeau,Catherine Boileau +33 more
TL;DR: In this paper, the authors investigated the correlation between the fibrillin-1 (FBN1) genotype and the nature and severity of the clinical phenotype, including skeletal, cardiovascular, ophthalmologic, skin, pulmonary, and dural.
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Interpreting noncoding genetic variation in complex traits and human disease
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Comprehensive identification of mutational cancer driver genes across 12 tumor types
David Tamborero,Abel Gonzalez-Perez,Christian Perez-Llamas,Jordi Deu-Pons,Cyriac Kandoth,Jüri Reimand,Michael S. Lawrence,Gad Getz,Gary D. Bader,Li Ding,Nuria Lopez-Bigas,Nuria Lopez-Bigas +11 more
TL;DR: The combination of complementary methods allows identifying a comprehensive and reliable list of cancer driver genes and the methodology presented here open new avenues to better understand the mechanisms of tumorigenesis.
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SNPs3D: Candidate gene and SNP selection for association studies
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Better prediction of functional effects for sequence variants
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References
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Predicting Deleterious Amino Acid Substitutions
Pauline C. Ng,Steven Henikoff +1 more
TL;DR: A tool that uses sequence homology to predict whether a substitution affects protein function is constructed, which may be used to identify plausible disease candidates among the SNPs that cause missense substitutions.
Journal ArticleDOI
Human non‐synonymous SNPs: server and survey
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