Corpus ID: 236134350

FANCA: In-silco deleterious mutation prediction and grading of Leukemia

  title={FANCA: In-silco deleterious mutation prediction and grading of Leukemia},
  author={Madiha Hameed and Abdul Majiid and Asifullah Khan and Muhammad Ismail},
As a novel biomarker from the Fanconi anemia complementation group (FANC) family, FANCA is antigens to Leukemia cancer. The overexpression of FANCA has predicted the second most common cancer in the world that is responsible for cancer-related deaths. Nonsynonymous SNPs are an essential group of SNPs that lead to alterations in encoded polypeptides. Changes in the amino acid sequences of gene products lead to Leukemia. First, we study individual SNPs in the coding region of FANCA and… Expand

Figures and Tables from this paper


In-silico analysis of non-synonymous-SNPs of STEAP2: To provoke the progression of prostate cancer
It can be concluded that these non-synonymous single nucleotide polymorphisms (nsSNPs) can play their role in the up-regulation of STEAP2 which further leads to progression of prostate cancer. Expand
Origin, functional role, and clinical impact of Fanconi anemia FANCA mutations.
It is proved that long distance Alu-Alu recombination can cause Fanconi anemia by originating large interstitial deletions involving FANCA and 2 adjacent genes, and it is shown that all missense mutations studied lead to an altered FAN CA protein that is unable to relocate to the nucleus and activate the FA/BRCA pathway. Expand
BRCA1 interacts directly with the Fanconi anemia protein FANCA.
Evidence for direct interaction only between the FANCA protein and BRCA1 is found and this finding may reflect a direct role for the BRC a1 protein in double strand break (DSB) repair and interaction with the FANC proteins. Expand
The Fanconi anemia protein FANCF forms a nuclear complex with FANCA, FANCC and FANCG.
A model in which a multi-protein FA complex serves a nuclear function to maintain genomic integrity is proposed, including the subcellular localization of FANCA and the FAN CA/FANCG complex in all FA complementation groups. Expand
Structural basis of the fanconi anemia-associated mutations within the FANCA and FANCG complex
The structure provides insights into the function of FANCA CTD, and provides a framework for understanding FA- and cancer-associated mutations. Expand
A comprehensive in silico analysis of non-synonymous and regulatory SNPs of human MBL2 gene
Findings of the present study indicated 12 SNPs of MBL2 gene to be functionally important, which may provide novel remedial markers for various diseases. Expand
In silico analysis of consequences of non-synonymous SNPs of Slc11a2 gene in Indian bovines
Five non-synonymous SNPs in Slc11a2 gene were identified as deleterious while tested out for polar interactions with other amino acids in the protein, and from above 5, Y374C, Q385H and N492S showed a change in interaction pattern and were confirmed by an increase in total energy after energy minimizations in case of mutant protein compared to the native. Expand
Frequency and spectrum of PIK3CA somatic mutations in breast cancer
The therascreen PIK3CA mutation assay and the alpha-specific PI3K inhibitor alpelisib are FDA-approved for identifying and treating patients with advanced PIK3CA-mutated (PIK3CAmut) breast cancerExpand
In silico prediction of deleterious single nucleotide polymorphisms in human interleukin 27 (IL-27) gene
For the first time, deleterious single nucleotide polymorphisms were investigated in human interleukin 27 (IL-27) gene by using different bioinformatics predictive tools and predicted 2 nsSNPs and 20 ncSNPs as potential candidates in the IL-27 gene, which could be a priority for future case-control studies. Expand
Testing Primer Sequence Variations Using AS-PCR to Diagnose the V232D-CFTR Mutation
  • D. Hohman
  • Biology
  • Journal of Human and Clinical Genetics
  • 2019
To increase the specificity of detecting the V232D mutation of CFTR, an array of allele specific polymerase chain reaction (AS-PCR) strategies were tested and final analysis yielded data to support the function of mutant seeking primers on mutant DNA. Expand