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
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Journal ArticleDOI
Identification of a Novel Functional Non-synonymous Single Nucleotide Polymorphism in Frizzled Class Receptor 6 Gene for Involvement in Depressive Symptoms
TL;DR: It is demonstrated that SNP rs61753730 is a novel functional variant and plays an important role in depressive symptoms.
Book ChapterDOI
Role of von Willebrand Factor--A1 Domain Variants P1266L, H1268D, C1272R, and C1272F in VWD: A Molecular Modeling and Simulation Analysis Approach.
TL;DR: Through molecular dynamic simulation analysis over a period of 100 ns showed that four mutations near N-terminal region bring about a change in structure and function of the native VWD protein.
Journal ArticleDOI
Investigation of Mutations of Exon 11-A of BRCA1 Gene in Women with Breast Cancer in the Northwest of Iran
TL;DR: In this paper, the authors present a list of the departments of Biology, Faculty of Sciences, Azad University of Ahar, Ahar University, Iran, I.R.Iran 4.
Journal ArticleDOI
Mutation in MCL1 predicted loop to helix structural transition stabilizes MCL1–Bax binding interaction favoring cancer cell survival
TL;DR: The overall findings from the study reveal that the presence of V220F mutation on MCL1 is responsible for the structural confirmational change leading to disruption of its biological functions which might be responsible for tumorigenesis.
Journal ArticleDOI
Genome-wide in silico analysis leads to identification of deleterious L290V mutation in RBBP5 gene in Bos indicus.
TL;DR: In this paper , the genome-wide deleterious mutations were identified in zebu cattle (Bos indicus) using in silico approach, where a total of 279,383 SNPs were identified at Read Depth10, which were further filtered to 692 missense SNPs.
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
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