Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

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

PloS one - 1 Jan 2011

B Rajith, C George Priya Doss

Abstract excerpt

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...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Anemia
Share to Computational Biology
Share to Gene Deletion

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Glucosephosphate Dehydrogenase

Share to Glucosephosphate Dehydrogenase Deficiency

Share to Protein Isoforms

Share to Pyruvate Kinase

Share to Software

Source

Open in PubMed Open full text

Identifiers

PMID: 21931771
DOI: 10.1371/journal.pone.0024607
PMCID: PMC3172254

Genes

PKLR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Path to facilitate the prediction of functional amino acid substitutions in red blood cell disorders--a computational approach.PMID 21931771Read ↗

Targeted next-generation sequencing identifies eighteen novel mutations expanding the molecular and clinical spectrum of PKLR gene disorders in the Indian population.Semantic proximity Read ↗

In silico model-driven assessment of the effects of single nucleotide polymorphisms (SNPs) on human red blood cell metabolism.Semantic proximity Read ↗

A survey of proteins encoded by non-synonymous single nucleotide polymorphisms reveals a significant fraction with altered stability and activity.Semantic proximity Read ↗

Fifteen novel mutations in PKLR associated with pyruvate kinase (PK) deficiency: structural implications of amino acid substitutions in PK.Semantic proximity Read ↗

G6PD-MutDB: a mutation and phenotype database of glucose-6-phosphate (G6PD) deficiency.Semantic proximity Read ↗

Two Novel PKLR Variants in Pyruvate Kinase Deficiency: Insights From Clinical, Molecular and Functional Analysis.Semantic proximity Read ↗

Approaches and resources for prediction of the effects of non-synonymous single nucleotide polymorphism on protein function and interactions.Semantic proximity Read ↗

Seven novel glucose-6-phosphate dehydrogenase (G6PD) deficiency variants identified in the Qatari population.Semantic proximity Read ↗

Molecular heterogeneity of pyruvate kinase deficiency.Semantic proximity Read ↗

Functional non-synonymous polymorphisms prediction methods: current approaches and future developments.Semantic proximity Read ↗

Glucose-6-Phosphate Dehydrogenase: Update and Analysis of New Mutations around the World.Semantic proximity Read ↗

In Silico Tools and Approaches for the Prediction of Functional and Structural Effects of Single-Nucleotide Polymorphisms on Proteins: An Expert Review.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.