skip to main content
Language:
Search Limited to: Search Limited to: Resource type Show Results with: Show Results with: Search type Index

Structure analysis of deleterious nsSNPs in human PALB2 protein for functional inference

Bioinformation, 2021-03, Vol.17 (3), p.424-438

Copyright Biomedical Informatics Mar 2021 ;2021 Biomedical Informatics 2021 ;ISSN: 0973-8894 ;ISSN: 0973-2063 ;EISSN: 0973-2063 ;DOI: 10.6026/97320630017424 ;PMID: 34092963

Full text available

Citations Cited by
  • Title:
    Structure analysis of deleterious nsSNPs in human PALB2 protein for functional inference
  • Author: Nawar, Noshin
  • Subjects: Structural analysis
  • Is Part Of: Bioinformation, 2021-03, Vol.17 (3), p.424-438
  • Description: Partner and Localizer of BRCA2 or PALB2 is a typical tumor suppressor protein, that responds to DNA double stranded breaks through homologous recombination repair. Heterozygous mutations in PALB2 are known to contribute to the susceptibility of breast and ovarian cancer. However, there is no comprehensive study characterizing the structural and functional impacts of SNPs located in the PALB2 gene.Therefore, it is of interest to document a comprehensive analysis of coding and non-coding SNPs located at the PALB2 loci using in silico tools. The data for 1455 non-synonymous SNPs (nsSNPs) located in the PALB2 loci were retrieved from the dbSNP database. Comprehensive characterization of the SNPs using a combination of in silico tools such as SIFT, PROVEAN, PolyPhen, PANTHER, PhDSNP, Pmut, MutPred 2.0 and SNAP-2, identified 28 functionally important SNPs. Among these, 16 nsSNPs were further selected for structural analysis using conservation profile and protein stability. The most deleterious nsSNPs were documented within the WD40 domain of PALB2. A general outline of the structural consequences of each variant was developed using the HOPE project data. These 16 mutant structures were further modelled using SWISS Model and three most damaging mutant models (rs78179744, rs180177123 and rs45525135) were identified. The non-coding SNPs in the 3’ UTR region of the PALB2 gene were analyzed for altered miRNA target sites. The comprehensive characterization of the coding and non-coding SNPs in the PALB2 locus has provided a list of damaging SNPs with potential disease association. Further validation through genetic association study will reveal their clinical significance.
  • Publisher: Puducherry: Biomedical Informatics
  • Language: English
  • Identifier: ISSN: 0973-8894
    ISSN: 0973-2063
    EISSN: 0973-2063
    DOI: 10.6026/97320630017424
    PMID: 34092963
  • Source: Geneva Foundation Free Medical Journals
    PubMed Central
Back to results list
INSPIRE LIBRARY - TON DUC THANG UNIVERSITY (84-028) 37 755 057 Feedback
19 Nguyen Huu Tho St. Dist.7, HCM thuvien@tdtu.edu.vn

Copyright © 2017 INSPIRE LIBRARY - TON DUC THANG UNIVERSITY

Searching Remote Databases, Please Wait