Analysis of missense mutations in adenosine deaminase using Pathogenic-Or-Not-Pipeline (PON-P)
KOTHA, SREEVANI (2010)
2010
Bioinformatiikka - Bioinformatics
Lääketieteellinen tiedekunta - Faculty of Medicine
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Hyväksymispäivämäärä
2010-12-16
Julkaisun pysyvä osoite on
https://urn.fi/urn:nbn:fi:uta-1-21108
https://urn.fi/urn:nbn:fi:uta-1-21108
Tiivistelmä
Background: Adenosine deaminase (ADA, E.C.3.5.4.4) is an enzyme that has an important role in immune functions and in the regulation of intracellular and extracellular concentrations of adenosine and adenosine receptor activity. The need of ADA is to breakdown the adenosine from food and also for the turnover of nucleic acids. ADA converts adenosine to inosine. Missense mutations differ from single-nucleotide polymorphism and these are rare things. It is a point mutation in which a single nucleotide is changed, which results in a codon that codes for a different amino acid. Mutations in ADA results in absence or deficiency of the adenosine deaminase enzyme in cells that prevents normal breakdown of deoxyadenosine. A buildup of this toxic compound hinders the development and of lymphocytes, which results in severe combined immunodeficiency.
Aims: The aim of this study is to analyze the effect of missense mutations using the tool Pathogenic-Or-Not Pipeline.
Methods: Different kinds of methods like tolerance predictions, stability change predictions, disorder predictions, aggregation predictions, and sequence conservation analysis methods were used to analyze the effect of missense mutations in ADA.
Results: Results conclude that not even single predictor output matches with those of others. Some of the predictors like Mupro conclude that the missense mutations have no affect on the stability of the protein whereas Cupsat gives the contrary results. Globplot, Iupred, MetaPrDos, PrDos, RONN shows the results in a way that no missense mutations leads to the disorder of the protein.
Conclusion: With single predictor it is not sufficient to achieve predictions good enough to follow the modular organization of a protein. Accuracy and sensitivity of the predictors should be well known. Combination of different predictors can minimize the errors in which PON-P plays a key role.
Asiasanat:Adenosine deaminase, ADA, Missense mutations, Predictor, PON-P, Stability, Disorder, Aggregation, Tolerance, Conservation
Aims: The aim of this study is to analyze the effect of missense mutations using the tool Pathogenic-Or-Not Pipeline.
Methods: Different kinds of methods like tolerance predictions, stability change predictions, disorder predictions, aggregation predictions, and sequence conservation analysis methods were used to analyze the effect of missense mutations in ADA.
Results: Results conclude that not even single predictor output matches with those of others. Some of the predictors like Mupro conclude that the missense mutations have no affect on the stability of the protein whereas Cupsat gives the contrary results. Globplot, Iupred, MetaPrDos, PrDos, RONN shows the results in a way that no missense mutations leads to the disorder of the protein.
Conclusion: With single predictor it is not sufficient to achieve predictions good enough to follow the modular organization of a protein. Accuracy and sensitivity of the predictors should be well known. Combination of different predictors can minimize the errors in which PON-P plays a key role.
Asiasanat:Adenosine deaminase, ADA, Missense mutations, Predictor, PON-P, Stability, Disorder, Aggregation, Tolerance, Conservation