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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Journal ArticleDOI
Using VAAST to Identify an X-Linked Disorder Resulting in Lethality in Male Infants Due to N-Terminal Acetyltransferase Deficiency
Alan F. Rope,Kai Wang,Rune Evjenth,Jinchuan Xing,Jennifer J. Johnston,Jeffrey Swensen,Jeffrey Swensen,W. Evan Johnson,Barry Moore,Chad D. Huff,Lynne M. Bird,John C. Carey,John M. Opitz,Cathy A. Stevens,Tao Jiang,Christa Schank,Heidi D. Fain,Reid J. Robison,Brian Dalley,Steven S. Chin,Sarah T. South,Sarah T. South,Theodore J. Pysher,Lynn B. Jorde,Hakon Hakonarson,Johan R. Lillehaug,Leslie G. Biesecker,Mark Yandell,Thomas Arnesen,Thomas Arnesen,Gholson J. Lyon,Gholson J. Lyon +31 more
TL;DR: Evidence is provided of a human genetic disorder resulting from direct impairment of N-terminal acetylation, one of the most common protein modifications in humans, and the pathogenic mutation hNaa10p causes this disease.
Journal ArticleDOI
Confirmation study of PTEN mutations among individuals with autism or developmental delays/mental retardation and macrocephaly
Kim L. McBride,Elizabeth Varga,Elizabeth Varga,Matthew Pastore,Matthew Pastore,Thomas W. Prior,Kandamurugu Manickam,Kandamurugu Manickam,Joan F. Atkin,Joan F. Atkin,Gail E. Herman,Gail E. Herman +11 more
TL;DR: This study reviewed the charts of individuals who had PTEN clinical sequencing performed at an institution from January 2008 to July 2009 and found PTEN mutations in 7/99 (7.1%) of individuals with ASD and 8/100 (8.0%) of Individuals with MR/DD, all of whom had macrocephaly.
Journal ArticleDOI
Genetic variation in human telomerase is associated with telomere length in Ashkenazi centenarians
Gil Atzmon,Miook Cho,Richard M. Cawthon,Temuri Budagov,Micol Katz,Xiaoman Yang,Glenn Siegel,Aviv Bergman,Derek M. Huffman,Clyde B. Schechter,Woodring E. Wright,Jerry W. Shay,Nir Barzilai,Diddahally R. Govindaraju,Yousin Suh +14 more
TL;DR: In this article, the inheritance and maintenance of telomere length and variations in two major genes associated with telomerase enzyme activity, hTERT and hTERC, were studied in a cohort of Ashkenazi Jewish centenarians, their offspring, and offspring-matched controls.
Proceedings ArticleDOI
Deep Spectral Clustering Using Dual Autoencoder Network
TL;DR: A joint learning framework for discriminative embedding and spectral clustering is proposed, which can significantly outperform state-of-the-art clustering approaches and be more robust to noise.
Journal ArticleDOI
Lamin A/C mutation analysis in a cohort of 324 unrelated patients with idiopathic or familial dilated cardiomyopathy.
Sharie B. Parks,Jessica D. Kushner,Deirdre Nauman,Donna Burgess,Susan Ludwigsen,Amanda Peterson,Duanxiang Li,Petra M. Jakobs,Michael Litt,Charles B. Porter,Peter S. Rahko,Ray E. Hershberger +11 more
TL;DR: The novel observation of FDC pedigrees in which not all affected individuals carry the putative disease-causing LMNA mutation suggests that some protein-altering LMNA variants are not causative or that some proportion of F DC may be because of multiple causative factors.
References
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Journal ArticleDOI
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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