Identification and in silico analysis of functional SNPs of the BRCA1 gene.
TLDR
It is proposed that an nsSNP (rs1800751) could be an important candidate for the breast cancer caused by the BRCA1 gene from a comparison of the stabilizing residues of the native and mutant proteins.About:
This article is published in Genomics.The article was published on 2007-10-01 and is currently open access. It has received 79 citations till now. The article focuses on the topics: Nonsynonymous substitution & Untranslated region.read more
Citations
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Identification and in silico Characterization of Deleterious Single Nucleotide Variations in Human ZP2 Gene
TL;DR: In this paper, a comprehensive in-silico analysis of all the SNPs found in hZP2 was conducted and six different computational tools including SIFT and PolyPhen-2 predicted 18 common nsSNPs as deleterious of which 12 were predicted to most likely affect the structure / functional properties.
Utilização de ferramentas computacionais para o estudo do impacto funcional e estrutural de nsSNPs em genes codificadores de proteínas
TL;DR: Fizemos a modelagem de nsSNPs nas correspondentes estruturas proteicas nativas como codificadas pelos genes, buscando determinar o impacto causado por estas variacoes utilizando diferentes metodos computacionais, tais como o docking molecular e a otimizacao de estrutsuras proteica.
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Insilico prediction and functional analysis of nonsynonymous SNPs in human CTLA4 gene
TL;DR: In this paper , the most damaging missense or non-synonymous SNPs (nsSNPs) that might be crucial for the structure and function of CTLA4 using different bioinformatics tools.
References
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Journal ArticleDOI
dbSNP: the NCBI database of genetic variation
Stephen T. Sherry,Minghong Ward,Michael Kholodov,Jonathan Baker,Lon Phan,Elizabeth M. Smigielski,Karl Sirotkin +6 more
TL;DR: The dbSNP database is a general catalog of genome variation to address the large-scale sampling designs required by association studies, gene mapping and evolutionary biology, and is integrated with other sources of information at NCBI such as GenBank, PubMed, LocusLink and the Human Genome Project data.
Journal ArticleDOI
A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1
Yoshio Miki,Jeff Swensen,Donna M Shattuck-Eidens,P. Andrew Futreal,Keith D Harshman,Sean V. Tavtigian,Qingyun Liu,Charles Cochran,L. Michelle Bennett,Wei Ding,Russell Bell,Judith Rosenthal,Charles E. Hussey,Thanh Tran,Melody McClure,Cheryl Frye,Tom Hattier,Robert Phelps,Astrid Haugen-Strano,Harold Katcher,Kazuko Yakumo,Zahra Gholami,Daniel Shaffer,Steven Stone,Steven Bayer,Christian Wray,Robert Bogden,Priya Dayananth,John R. Ward,Patricia N. Tonin,Steven A. Narod,Pam K. Bristow,Frank H. Norris,Leah M. Helvering,Paul Morrison,Paul Robert Rosteck,Mei Lai,J. Carl Barrett,Cathryn M. Lewis,Susan L. Neuhausen,Lisa A. Cannon-Albright,David E. Goldgar,Roger W. Wiseman,Alexander Kamb,Mark H. Skolnick +44 more
TL;DR: A strong candidate for the 17q-linked BRCA1 gene, which influences susceptibility to breast and ovarian cancer, has been identified by positional cloning methods.
Journal ArticleDOI
SIFT: predicting amino acid changes that affect protein function
Pauline C. Ng,Steven Henikoff +1 more
TL;DR: 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.
Journal ArticleDOI
Estrogen Resistance Caused by a Mutation in the Estrogen-Receptor Gene in a Man
Eric P. Smith,Jeff Boyd,Graeme R. Frank,Hiroyuki Takahashi,Robert M. Cohen,Bonny Specker,Timothy C. Williams,Dennis B. Lubahn,Kenneth S. Korach +8 more
TL;DR: Disruption of the estrogen receptor in humans need not be lethal and is important for bone maturation and mineralization in men as well as women.
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.
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SIFT: predicting amino acid changes that affect protein function
Pauline C. Ng,Steven Henikoff +1 more