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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Proteome-Scale Investigation of Protein Allosteric Regulation Perturbed by Somatic Mutations in 7,000 Cancer Genomes.
Qiancheng Shen,Feixiong Cheng,Huili Song,Weiqiang Lu,Junfei Zhao,Xiaoli An,Mingyao Liu,Guo-Qiang Chen,Zhongming Zhao,Jian Zhang +9 more
TL;DR: Light is shed on the role of allosteric regulation during tumorigenesis and a statistical approach, namely AlloDriver, is developed to provide a useful tool for the timely development of targeted cancer therapies.
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Learning Deep Global Multi-Scale and Local Attention Features for Facial Expression Recognition in the Wild
TL;DR: Zeng et al. as mentioned in this paper proposed a global multi-scale and local attention network (MA-Net) for facial expression recognition in the wild, which consists of three main components: a feature pre-extractor, a multiscale module, and a local attention module.
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Novel functional APOB mutations outside LDL-binding region causing familial hypercholesterolaemia
TL;DR: In this article, the authors performed whole sequencing of APOB by pyrosequencing and identified a total of 10 putative mutations in APOB, including p.Tyr1247Cys, p.Arg1164Thr and p.Gln4494del.
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Mapping of Genotype–Phenotype Diversity among Clinical Isolates of Mycobacterium tuberculosis by Sequence-Based Transcriptional Profiling
Graham Rose,Teresa Cortes,Iñaki Comas,Mireia Coscolla,Mireia Coscolla,Sebastien Gagneux,Sebastien Gagneux,Douglas B. Young,Douglas B. Young +8 more
TL;DR: The application of state-of-the-art techniques are demonstrated to provide novel insight into mechanisms by which intergenic and silent mutations contribute to diversity.
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Deep genome sequencing and variation analysis of 13 inbred mouse strains defines candidate phenotypic alleles, private variation and homozygous truncating mutations
TL;DR: The catalogue of fully sequenced laboratory mouse strains is significantly expanded and now contains several examples of highly genetically similar strains with divergent phenotypes, showing how studying private missense mutations can lead to insights into the genetic mechanism for a highly penetrant phenotype.
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
TL;DR: A World Wide Web server is presented to predict the effect of an nsSNP on protein structure and function and the dependence of selective pressure on the structural and functional properties of proteins is studied.