Article

Insilico Analysis Reveal Three novel nsSNPs May effect on <i>GM2A</i> protein Leading to AB variant of GM2 gangliosidosis

2019-11-25

Abstract excerpt

<h4>ABSTRACT</h4> <h4>Background</h4> AB variant of GM2 gangliosidosis caused as a result of mutations in GM2 activator gene ( GM2A ) which is regarded as neurodegenerative disorder. This study aimed to predict the possible damaging SNPs of this gene and their impact on the protein using different bioinformatics tools. <h4>Methods</h4> SNPs retrieved from the NCBI database were analyzed using several bioinfor...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: b3e26419-bce6-5441-8c02-22f464252c6e
DOI: 10.1101/853085

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Insilico Analysis Reveal Three novel nsSNPs May effect on <i>GM2A</i> protein Leading to AB variant of GM2 gangliosidosisDOI 10.1101/853085Read

Thirty two novel nsSNPs May effect on <i>HEXA</i> protein Leading to Tay-Sachs disease (TSD) Using a Computational ApproachSemantic proximity Read

Comprehensive Analysis of <i>HEXB</i> Protein Reveal Forty Two Novel nsSNPs That May Lead to Sandhoff disease (SD) Using BioinformaticsSemantic proximity Read

Molecular Modelling of nsSNPs in GABRA2 Gene in Epilepsy and Study of Their Impact On Structure and Stability of GABRA2 ProteinSemantic proximity Read

<i>In silico</i> Analysis of Nonsynonymous Genomic Variants within <i>CCM2</i> Gene Reaffirm the Existence of Dual Cores within Typical PTB DomainSemantic proximity Read

A computational approach to analyse the amino acid variants of GLB1 protein causing GM1 Gangliosidosis.Semantic proximity Read

GM2 gangliosidosis AB variant: first case of late onset and review of the literature.Semantic proximity Read

Alexander Disease: Screening and<i>in silico</i>functional characterization of variants on candidate geneSemantic proximity Read

Unmasking of novel mutations within <i>XK</i> gene that could be used as Diagnostic Markers to Predict McLeod syndrome: Using in silico analysisSemantic proximity Read

Six novel nsSNPs affect <i>RUNX1</i> gene may leading to Acute Myeloid Leukemia (AML) using Bioinformatics approachSemantic proximity Read

SAAMP 2.0: An algorithm to predict genotype-phenotype correlation of lysosomal storage diseases.Semantic proximity Read

Two patients from Turkey with a novel variant in the GM2A gene and review of the literature.Semantic proximity Read

Mutation Spectrum analysis of ITGA3 gene associated with Nephrotic syndromeSemantic proximity Read