Incorporating The Amino Acid Properties To Predict The Significance Of Missense Mutations

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structural insight of mutations causing 6-pyruvoyl

by JRC Muniz 2019 Cited by 3 important database for disease-causing mutations. Missense variants lead to substitution of single amino acids at a particular codon, and their consequences 

Pan-Cancer Analysis of Mutation Hotspots in Protein Domains

by ML Miller 2015 Cited by 81 Focusing on missense mutations, we observed that the relative proportion of amino acids affected by mutations varied considerably between 

Protein stability engineering insights revealed by - PNAS

by A Nisthal 2019 Cited by 33 identification of significant numbers of missense mutations as- as positional sensitivity and incorporated amino acid tolerance,.

PhosphoPICK-SNP: Quantifying the effect of amino acid

by R Patrick 2017 Cited by 7 Applying PredPhospho to missense mutations obtained from Swiss-. Prot, they predicted examples of phosphovariants and incorporated them into the PhosphoVariant  9 pages

predicting the pathogenicity of human missense variants

by L Ponzoni 2020 Cited by 23 incorporating both sequence coevolution data and structure- and standing not only the significance of the mutated amino acid vis-a`-.9 pages

Integrating molecular network with genetic variant

1 May 2019 These studies lay the foundation for using networks to predict variant Missense mutations that change only a single amino acid in the 

Accurate mutation annotation and functional prediction

by T Chen 2016 within 5 amino acids of each other, and detects clusters of missense mutations that are significantly mutated and therefore where driver genes lie.

iHyd-PseCp: Identify hydroxyproline and - Oncotarget

Chou's pseudo amino acid composition (PseAAC) [7] and outperformed the existing state-of-the-art prediction method for the same purpose.

Incorporating the amino acid properties to predict - ProQuest

by T Lee 2008 Cited by 5 Incorporating the amino acid properties to predict the significance of missense mutations. Tze-Chuen Lee Ж Ann S. G. Lee Ж Kuo-Bin Li.

A Two-amino Acid Mutation Encountered in Duchenne

this study, we made use of rare missense pathogenic mutations in the dystrophin gene and analyzed the biochemical properties of the.

Predicting Stability and Functional Changes Induced by

induced by single amino acid substitutions and for detecting quence) and nonsense mutations (single nucleotide variants which truncate the protein.

Analysis and prediction of the effects of single amino acid

by CM Yates Enhanced prediction of single amino acid variant (SAV) phenotype using sense and nonsense mutations listed as disease-causing, accounting for 55%.

Modelling the effects of single point mutations on the - edoc

by JND Battey 2009 can be used as a general purpose mutation prediction tool, amino acid can assume three conformations, which is an underestimation of the true.

Radical amino acid mutations persist longer in the - JSTOR

by J Sharbrough 2018 Cited by 15 acids have similar biochemical properties) amino acid changes polarity classifications), meaning that these schemes incorporate aspects of other amino 

UNIVERSITY COLLEGE LONDON Structural analysis of

by A Baresic 2012 Cited by 1 understand and predict the effects single amino acid mutations will have on protein 4.2.2 Sequence-based properties of interfaces

New in protein structure and function annotation - CORE

by Y Bromberg 2009 Cited by 14 Incorporating the amino acid properties to predict the significance of missense mutations. Amino Acids (2008) 35(3):615-626. Ramensky V, Bork P, Sunyaev S:.

Analyzing Effects of Naturally Occurring Missense Mutations

by Z Zhang 2012 Cited by 111 methods and approaches for predicting the effects of mutation on protein stability, The amino acid properties are often considered an.

Multiple Property Tolerance Analysis for the Evaluation of

by TS Lee 2006 Cited by 3 information with alignments improves prediction accuracy. Here, we present a conservation of amino acid properties method for mutation prediction, 

Exome-Scale Discovery of Hotspot Mutation Regions in

by C Tokheim 2016 Cited by 82 is defined for each amino acid residue r and each protein structure k. It considers the sum of the count of missense mutations.

Accurate Classification of MLH1/MSH2 Missense Variants

by EC Chao 2008 Cited by 118 of Lynch syndrome mutations are missense [Peltomaki et al., MAPP-MMR scores for all possible MLH1/MSH2 amino acid.

Identifying pathogenic amino acid substitutions in human

by A Kvist 2018 B Predicting the effect of mutations. 19. B.1 Variant effect predictors ants implement biochemical properties of amino acids in addition to evolu-.40 pages

Identification of pathogenic missense mutations using - Nature

by L Gerasimavicius 2020 Cited by 8 at the protein level, i.e. missense mutations, which are associated with more than half physiochemical properties of amino acids, biological function, 

predicting the functional impact of nonsynonymous single

by S Zeng 2014 Cited by 21 dataset showed significant improvement on prediction accuracy upon currently widely-used Keywords: Coding mutation, nsSNP, Amino acid conservation, 

mutation3D: cancer gene prediction through atomic clustering

by MJ Meyer Cited by 63 dimensional locations of the α-carbons of those amino acids whose codons contain missense mutations. The coordinates of all atoms within proteins were 

Novel approaches for in silico identification of pathogenic

and the other is trained to estimate the clinical significance of a variant, in 23 exons and encodes for a multi-domain protein of 1863 amino acids.

Tools for Predicting the Functional Impact of - Genetics

by H Tang 2016 Cited by 70 cause a change in the amino acid sequence of a protein encoded by a gene) have long been the physicochemical properties of amino acids, such as the.

Synthetic biology for the directed evolution of protein

20 Oct 2014 Non-canonical amino acid incorporation What enzyme properties determine kcat values?

Quantification of the effect of mutations using a -

by TA Hopf 2015 Cited by 22 model to the constrained patterns of amino acid usage present in observed sequences, a global statistical model can predict a.


by T Preeprem 2014 We have developed a novel structure-based evaluation for missense variants that explicitly models protein structure and amino acid properties to predict the 

PIVOTAL: Prioritizing variants of uncertain significance with

5 Jun 2020 Using PIVOTAL, we made pathogenicity predictions for over on the same amino acid residues as any known disease mutation in HGMD (see  21 pages

Human Mutation/substitution Rate: Variability, Modeling And

by V Aggarwala 2016 Application of Gene and Amino acid scores on Autism de novo mutations Table 4.6 Polyphen prediction on different missense variants

Mutation severity spectrum of rare alleles in the human - PLOS

15 May 2020 missense mutations, referred to as single amino acid variations enrichment log-odds score was used to determine if any property is 

Sequence-based prediction reveals effect of - mediaTUM

Acid Variants oder Missense SNV) von 60.706 Personen angewendet. information with composition of amino acid and physiochemical properties of amino.

Method for Enzyme Design with Genetically Encoded

by C Hu Cited by 5 The significance of using unnatural amino acids can be explained by the fol- lowing three reasons: 1. Incorporating an unnatural amino acid significantly 

Knowing Your NGS Downstream: Functional Predictions

15 May 2013 SIFT: predicting amino acid changes that affect protein function. A method and server for predicting damaging missense mutations.

A curated online resource for protein function and structure

by J Binkley 2010 Cited by 34 parative sequence analysis to predict constraint and mutation impact for eukaryotic alignment to predict the impact of every possible amino acid.

A Computational Analysis of the Structure of the - MacSphere

by C Degagne 2015 amino acids encoded by codons separated by single nucleotide mutations. previously was considered to be the most conserved property in the SGC.

SDS, a structural disruption score for assessment of missense

by T Preeprem Cited by 14 models protein structure and amino acid properties to predict the assessments to missense mutations and their 3D protein struc-.


by Z Zhang 2013 genetic mutations resulting in a change in the amino acid sequence of the predicting whether a given missense mutation is disease-causing or harmless 

a web-based tool for predicting and analyzing functional loss

28 Oct 2013 of missense mutations in the angiogenin (ANG) protein, by replacing the target residue with the desired amino acid residue.

genetic codes freeze in error-correcting patterns - NCBI - NIH

31 Oct 2002 Missense is defined as the incorporation, by mutation or mistranslation, of the. 'incorrect' amino acid at a given site, where the 'correct'.

Combining Structural - Edinburgh Research Explorer

by N Berliner 2014 Cited by 68 mutations, accurate prediction of significant changes in either the a change in the amino acid sequence and, generally, have stronger.

Use of fuzzy clustering technique and matrices to classify

by DN Georgiou 2009 Cited by 224 to Chou's pseudo amino acid composition, Journal of Theoretical Biology that one should use the properties that determine in the more 

Predicting the Clinical Lethality of Osteogenesis Imperfecta

by DL Bodian 2008 Cited by 79 bulky amino acids are substituted for glycine is predicted by their position Missense mutation of a conserved Gly in the triple-helical.

Predicting Functional Effect of Human Missense Mutations Using

PolyPhen-2 (Adzhubei et al., 2010) is an automatic tool for prediction of the possible impact of an amino acid substitution on the structure and function of a  41 pages

Analyzing Effects of Naturally Occurring Missense Mutations

by Z Zhang Cited by 111 methods and approaches for predicting the effects of mutation on protein stability, The amino acid properties are often considered an.

SAAMBE-3D: Predicting Effect of Mutations on Protein - MDPI

by S Pahari 2020 Cited by 18 correctly and quickly predict the effect of amino acid mutations is crucial Disruption of PPIs away from native properties could cause.

Predicting the most deleterious missense nsSNPs of the

by E Emadi 2020 Cited by 2 exist throughout the genome [1 3]. A missense mutation is a type of nonsynonymous (nsSNPs) substitution in which the one amino acid is substituted with  27 pages

Download PDF - The Journal of Molecular Diagnostics

by MM Li 2017 Cited by 707 multistep process of genetic mutations and tumor heteroge- that cause a missense, silent, or nonsense amino acid sub-.

SCONES: Self-Consistent Neural Network for - ChemRxiv

by YS BL 2021 Cited by 1 Engineering proteins to have desired properties by mutating amino acids at specific to the protein's ∆G. We predict ∆∆G for a missense mutation by.