Literature DB >> 12824425

SIFT: Predicting amino acid changes that affect protein function.

Pauline C Ng1, Steven Henikoff.   

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.

Entities:  

Mesh：

Substances：

Year:  2003        PMID： 12824425      PMCID： PMC168916          DOI： 10.1093/nar/gkg509

Source DB:  PubMed          Journal:  Nucleic Acids Res        ISSN： 0305-1048            Impact factor:   16.971


  13 in total

1.  dbSNP: the NCBI database of genetic variation.

Authors:  S T Sherry; M H Ward; M Kholodov; J Baker; L Phan; E M Smigielski; K Sirotkin
Journal:  Nucleic Acids Res       Date:  2001-01-01       Impact factor: 16.971

2.  Predicting the functional consequences of non-synonymous single nucleotide polymorphisms: structure-based assessment of amino acid variation.

Authors:  D Chasman; R M Adams
Journal:  J Mol Biol       Date:  2001-03-23       Impact factor: 5.469

3.  Prediction of deleterious human alleles.

Authors:  S Sunyaev; V Ramensky; I Koch; W Lathe; A S Kondrashov; P Bork
Journal:  Hum Mol Genet       Date:  2001-03-15       Impact factor: 6.150

4.  Accounting for human polymorphisms predicted to affect protein function.

Authors:  Pauline C Ng; Steven Henikoff
Journal:  Genome Res       Date:  2002-03       Impact factor: 9.043

5.  Predicting deleterious amino acid substitutions.

Authors:  P C Ng; S Henikoff
Journal:  Genome Res       Date:  2001-05       Impact factor: 9.043

6.  Evaluation of structural and evolutionary contributions to deleterious mutation prediction.

Authors:  Christopher T Saunders; David Baker
Journal:  J Mol Biol       Date:  2002-09-27       Impact factor: 5.469

7.  The SWISS-PROT protein sequence database and its supplement TrEMBL in 2000.

Authors:  A Bairoch; R Apweiler
Journal:  Nucleic Acids Res       Date:  2000-01-01       Impact factor: 16.971

Review 8.  Lac repressor genetic map in real space.

Authors:  H C Pace; M A Kercher; P Lu; P Markiewicz; J H Miller; G Chang; M Lewis
Journal:  Trends Biochem Sci       Date:  1997-09       Impact factor: 13.807

9.  Human gene mutation database-a biomedical information and research resource.

Authors:  M Krawczak; E V Ball; I Fenton; P D Stenson; S Abeysinghe; N Thomas; D N Cooper
Journal:  Hum Mutat       Date:  2000       Impact factor: 4.878

10.  Human non-synonymous SNPs: server and survey.

Authors:  Vasily Ramensky; Peer Bork; Shamil Sunyaev
Journal:  Nucleic Acids Res       Date:  2002-09-01       Impact factor: 16.971
View more
  2000 in total

1.  Testing computational prediction of missense mutation phenotypes: functional characterization of 204 mutations of human cystathionine beta synthase.

Authors:  Qiong Wei; Liqun Wang; Qiang Wang; Warren D Kruger; Roland L Dunbrack
Journal:  Proteins       Date:  2010-07

2.  Compound heterozygosity for loss-of-function lysyl-tRNA synthetase mutations in a patient with peripheral neuropathy.

Authors:  Heather M McLaughlin; Reiko Sakaguchi; Cuiping Liu; Takao Igarashi; Davut Pehlivan; Kristine Chu; Ram Iyer; Pedro Cruz; Praveen F Cherukuri; Nancy F Hansen; James C Mullikin; Leslie G Biesecker; Thomas E Wilson; Victor Ionasescu; Garth Nicholson; Charles Searby; Kevin Talbot; Jeffrey M Vance; Stephan Züchner; Kinga Szigeti; James R Lupski; Ya-Ming Hou; Eric D Green; Anthony Antonellis
Journal:  Am J Hum Genet       Date:  2010-10-08       Impact factor: 11.025

3.  Homozygous splice mutation in CWF19L1 in a Turkish family with recessive ataxia syndrome.

Authors:  Randi Burns; Karen Majczenko; Jishu Xu; Weiping Peng; Zuhal Yapici; James J Dowling; Jun Z Li; Margit Burmeister
Journal:  Neurology       Date:  2014-10-31       Impact factor: 9.910

4.  Whole-genome sequencing of the snub-nosed monkey provides insights into folivory and evolutionary history.

Authors:  Xuming Zhou; Boshi Wang; Qi Pan; Jinbo Zhang; Sudhir Kumar; Xiaoqing Sun; Zhijin Liu; Huijuan Pan; Yu Lin; Guangjian Liu; Wei Zhan; Mingzhou Li; Baoping Ren; Xingyong Ma; Hang Ruan; Chen Cheng; Dawei Wang; Fanglei Shi; Yuanyuan Hui; Yujing Tao; Chenglin Zhang; Pingfen Zhu; Zuofu Xiang; Wenkai Jiang; Jiang Chang; Hailong Wang; Zhisheng Cao; Zhi Jiang; Baoguo Li; Guang Yang; Christian Roos; Paul A Garber; Michael W Bruford; Ruiqiang Li; Ming Li
Journal:  Nat Genet       Date:  2014-11-02       Impact factor: 38.330

5.  Early-onset Crohn's disease and autoimmunity associated with a variant in CTLA-4.

Authors:  Sebastian Zeissig; Britt-Sabina Petersen; Michal Tomczak; Espen Melum; Emilie Huc-Claustre; Stephanie K Dougan; Jon K Laerdahl; Björn Stade; Michael Forster; Stefan Schreiber; Dascha Weir; Alan M Leichtner; Andre Franke; Richard S Blumberg
Journal:  Gut       Date:  2014-11-03       Impact factor: 23.059

6.  An Exome-Wide Association Study Identifies New Susceptibility Loci for Age of Smoking Initiation in African- and European-American Populations.

Authors:  Keran Jiang; Zhongli Yang; Wenyan Cui; Kunkai Su; Jennie Z Ma; Thomas J Payne; Ming D Li
Journal:  Nicotine Tob Res       Date:  2019-05-21       Impact factor: 4.244

7.  Calmodulin mutations associated with recurrent cardiac arrest in infants.

Authors:  Lia Crotti; Christopher N Johnson; Elisabeth Graf; Gaetano M De Ferrari; Bettina F Cuneo; Marc Ovadia; John Papagiannis; Michael D Feldkamp; Subodh G Rathi; Jennifer D Kunic; Matteo Pedrazzini; Thomas Wieland; Peter Lichtner; Britt-Maria Beckmann; Travis Clark; Christian Shaffer; D Woodrow Benson; Stefan Kääb; Thomas Meitinger; Tim M Strom; Walter J Chazin; Peter J Schwartz; Alfred L George
Journal:  Circulation       Date:  2013-02-06       Impact factor: 29.690

8.  Exome sequencing finds a novel PCSK1 mutation in a child with generalized malabsorptive diarrhea and diabetes insipidus.

Authors:  Michael Yourshaw; R Sergio Solorzano-Vargas; Lindsay A Pickett; Iris Lindberg; Jiafang Wang; Galen Cortina; Anna Pawlikowska-Haddal; Howard Baron; Robert S Venick; Stanley F Nelson; Martín G Martín
Journal:  J Pediatr Gastroenterol Nutr       Date:  2013-12       Impact factor: 2.839

9.  Complexity and diversity of F8 genetic variations in the 1000 genomes.

Authors:  J N Li; I G Carrero; J F Dong; F L Yu
Journal:  J Thromb Haemost       Date:  2015-10-20       Impact factor: 5.824

10.  Development and validation of a small SNP panel for feed efficiency in beef cattle.

Authors:  M K Abo-Ismail; N Lansink; E Akanno; B K Karisa; J J Crowley; S S Moore; E Bork; P Stothard; J A Basarab; G S Plastow
Journal:  J Anim Sci       Date:  2018-03-06       Impact factor: 3.159
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.