Identification of Functional SNPs in BARD1 Gene and In Silico Analysis of Damaging SNPs: Based on Data Procured from dbSNP Database

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Alshatwi, Ali A. and Hasan, Tarique N. and Syed, Naveed A. and Shafi, Gowhat and Grace, B. Leena (2012) Identification of Functional SNPs in BARD1 Gene and In Silico Analysis of Damaging SNPs: Based on Data Procured from dbSNP Database. PLoS ONE, 7 (10). e43939. ISSN 1932-6203

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Abstract

This study identifies functional nsSNPs in the BARD1 gene associated with female cancers. 2.85% of SNPs were in coding regions. SIFT, PolyPhen, and I-Mutant predicted rs4986841, rs111367604, rs13389423, and rs139785364 as deleterious, reducing protein stability. These SNPs are located in the ankyrin ring and BRCT domains, providing targets for population-based studies of breast, ovarian, and uterine cancers. © 2012 Alshatwi et al. © 2013 Elsevier B.V., All rights reserved.

Item Type: Article
Subjects: Biochemistry, Genetics and Molecular Biology > Genetics
Divisions: Engineering and Technology > Vinayaka Mission's Kirupananda Variyar Engineering College, Salem > Bio-technology
Depositing User: Unnamed user with email techsupport@mosys.org
Last Modified: 10 Dec 2025 06:52
URI: https://vmuir.mosys.org/id/eprint/4214

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