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

ABSTRACT:

Background

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.

Principal findings

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

SUBMITTER: B R 

PROVIDER: S-EPMC3172254 | biostudies-literature | 2011

REPOSITORIES: biostudies-literature