ArticleTurkish journal of haematology : official journal of Turkish Society of Haematology2020
In Silico Study of Correlation between Missense Variations of
Article in Turkish journal of haematology : official journal of Turkish Society of Haematology, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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1 citing paper in PubMed, 2 citations in OpenAlex.
- Mutation detection and inhibitor analysis of 43 children with severe hemophilia A in a single center: three novel mutations.Indian journal of hematology & blood transfusion : an official journal of Indian Society of Hematology and Blood Transfusion · 2024Article
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2 authors at 2 institutions in 1 country.
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Abstract
Objective: Deleterious substitutions of the Materials and Methods: All tests were conducted by computational methods from the CHAMP (CDC Hemophilia A Mutation Project) database. We performed an in silico analysis of deleterious variations using five software programs, Sift, PolyPhen-2, Align-GVGD, KD4v, and MutationTaster, in order to analyze the correlation between variation and the disease. We also studied the correlation between these variations and inhibitor formation. Results: Our analysis showed that these in silico tools are coherent and that there are more variations in the A than the C domains. Moreover, we noticed that there are more deleterious variations than neutral variations in each of the A and C domains. We also found that 13.51% of the patients suffered from a severe form of hemophilia A and that carriers of missense variations developed inhibitors. Also, for the first time, we determined that variation nature is not associated with inhibitor formation. Furthermore, this analysis showed that the risk of developing inhibitors increases when the variation causes a change of amino acid class. Conclusion: This study will help to correctly associate variations with inhibitor development and aid in early characterization of novel variants.
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