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https://doi.org/10.1101/759787...
Article . 2019 . Peer-reviewed
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Thirty five novel nsSNPs may effect onADAMTS13protein leading to Thrombotic thrombocytopenic purpura (TTP) using bioinformatics approach

Authors: Abdelhameed, Tebyan A.; Ahmed, Arwa I.; Mustafa, Mujahed I.; Eltayeb, Amel N.; Abdelrhman, Fatima A.; Ahmed, Amal B.; Ahmed, Najla B.; +6 Authors

Thirty five novel nsSNPs may effect onADAMTS13protein leading to Thrombotic thrombocytopenic purpura (TTP) using bioinformatics approach

Abstract

ABSTRACTBackgroundGenetic polymorphisms in theADAMTS13gene are associated with thrombotic thrombocytopenic purpura or TTP, a life-threatening microangiopathic disorder. This study aims to predict the possible pathogenic SNPs of this gene and their impact on the protein structure and function using insilico methods.MethodsSNPs retrieved from the NCBI database were analyzed using several bioinformatics tools. The different algorithms applied collectively to predictthe effect of single nucleotide substitution on both structure and function of theADAMTS13protein.ResultsFifty one mutations were found to be highly damaging to the structure and function of the protein. Of those, thirty five were novel nsSNPs not previously reported in the literature.ConclusionAccording to our analysis we found thirty five nsSNPs effects onADAMTS13protein leading to thrombotic thrombocytopenic purpura using computational approach. Bioinformatics tools are vital in prediction analysis, making use of increasingly voluminous biomedical data thereby providing markers for screening or for genetic mapping studies.

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citations
This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Citations provided by BIP!
popularity
This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
BIP!Popularity provided by BIP!
influence
This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Influence provided by BIP!
impulse
This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.
BIP!Impulse provided by BIP!
0
Average
Average
Average
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