Path to facilitate the prediction of functional amino acid substitutions in red blood cell disorders--a computational approach.

<h4>Background</h4>A major area of effort in current genomics is to distinguish mutations that are functionally neutral from those that contribute to disease. Single Nucleotide Polymorphisms (SNPs) are amino acid substitutions that currently account for approximately half of the known ge...

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Autores principales:	Rajith B, George Priya Doss C
Formato:	article
Lenguaje:	EN
Publicado:	Public Library of Science (PLoS) 2011
Materias:	Medicine R Science Q
Acceso en línea:	https://doaj.org/article/16fff814cb374a7a997c0ed434ce85ee
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spelling	oai:doaj.org-article:16fff814cb374a7a997c0ed434ce85ee2021-11-04T06:08:44ZPath to facilitate the prediction of functional amino acid substitutions in red blood cell disorders--a computational approach.1932-620310.1371/journal.pone.0024607https://doaj.org/article/16fff814cb374a7a997c0ed434ce85ee2011-01-01T00:00:00Zhttps://www.ncbi.nlm.nih.gov/pmc/articles/pmid/21931771/pdf/?tool=EBIhttps://doaj.org/toc/1932-6203<h4>Background</h4>A major area of effort in current genomics is to distinguish mutations that are functionally neutral from those that contribute to disease. Single Nucleotide Polymorphisms (SNPs) are amino acid substitutions that currently account for approximately half of the known gene lesions responsible for human inherited diseases. As a result, the prediction of non-synonymous SNPs (nsSNPs) that affect protein functions and relate to disease is an important task.<h4>Principal findings</h4>In this study, we performed a comprehensive analysis of deleterious SNPs at both functional and structural level in the respective genes associated with red blood cell metabolism disorders using bioinformatics tools. We analyzed the variants in Glucose-6-phosphate dehydrogenase (G6PD) and isoforms of Pyruvate Kinase (PKLR & PKM2) genes responsible for major red blood cell disorders. Deleterious nsSNPs were categorized based on empirical rule and support vector machine based methods to predict the impact on protein functions. Furthermore, we modeled mutant proteins and compared them with the native protein for evaluation of protein structure stability.<h4>Significance</h4>We argue here that bioinformatics tools can play an important role in addressing the complexity of the underlying genetic basis of Red Blood Cell disorders. Based on our investigation, we report here the potential candidate SNPs, for future studies in human Red Blood Cell disorders. Current study also demonstrates the presence of other deleterious mutations and also endorses with in vivo experimental studies. Our approach will present the application of computational tools in understanding functional variation from the perspective of structure, expression, evolution and phenotype.Rajith BGeorge Priya Doss CPublic Library of Science (PLoS)articleMedicineRScienceQENPLoS ONE, Vol 6, Iss 9, p e24607 (2011)
institution	DOAJ
collection	DOAJ
language	EN
topic	Medicine R Science Q
spellingShingle	Medicine R Science Q Rajith B George Priya Doss C Path to facilitate the prediction of functional amino acid substitutions in red blood cell disorders--a computational approach.
description	<h4>Background</h4>A major area of effort in current genomics is to distinguish mutations that are functionally neutral from those that contribute to disease. Single Nucleotide Polymorphisms (SNPs) are amino acid substitutions that currently account for approximately half of the known gene lesions responsible for human inherited diseases. As a result, the prediction of non-synonymous SNPs (nsSNPs) that affect protein functions and relate to disease is an important task.<h4>Principal findings</h4>In this study, we performed a comprehensive analysis of deleterious SNPs at both functional and structural level in the respective genes associated with red blood cell metabolism disorders using bioinformatics tools. We analyzed the variants in Glucose-6-phosphate dehydrogenase (G6PD) and isoforms of Pyruvate Kinase (PKLR & PKM2) genes responsible for major red blood cell disorders. Deleterious nsSNPs were categorized based on empirical rule and support vector machine based methods to predict the impact on protein functions. Furthermore, we modeled mutant proteins and compared them with the native protein for evaluation of protein structure stability.<h4>Significance</h4>We argue here that bioinformatics tools can play an important role in addressing the complexity of the underlying genetic basis of Red Blood Cell disorders. Based on our investigation, we report here the potential candidate SNPs, for future studies in human Red Blood Cell disorders. Current study also demonstrates the presence of other deleterious mutations and also endorses with in vivo experimental studies. Our approach will present the application of computational tools in understanding functional variation from the perspective of structure, expression, evolution and phenotype.
format	article
author	Rajith B George Priya Doss C
author_facet	Rajith B George Priya Doss C
author_sort	Rajith B
title	Path to facilitate the prediction of functional amino acid substitutions in red blood cell disorders--a computational approach.
title_short	Path to facilitate the prediction of functional amino acid substitutions in red blood cell disorders--a computational approach.
title_full	Path to facilitate the prediction of functional amino acid substitutions in red blood cell disorders--a computational approach.
title_fullStr	Path to facilitate the prediction of functional amino acid substitutions in red blood cell disorders--a computational approach.
title_full_unstemmed	Path to facilitate the prediction of functional amino acid substitutions in red blood cell disorders--a computational approach.
title_sort	path to facilitate the prediction of functional amino acid substitutions in red blood cell disorders--a computational approach.
publisher	Public Library of Science (PLoS)
publishDate	2011
url	https://doaj.org/article/16fff814cb374a7a997c0ed434ce85ee
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Path to facilitate the prediction of functional amino acid substitutions in red blood cell disorders--a computational approach.

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