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Sequence-structure based prediction of pathogenicity for amino acid substitutions in proteins associated with primary immunodeficiencies
Published 2025-02-01“…In this study, we have developed classification sequence-structure-property relationships (SSPR) models for predicting the pathogenicity of amino acid substitutions (AAS) in 25 proteins associated with the most important and genetically studied PIDs and encoded genes: IL2RG, JAK3, RAG1, RAG2, ADA, DCLRE1C, CD40LG, WAS, ATM, STAT3, KMT2D, BTK, FOXP3, AIRE, FAS, ELANE, ITGB2, CYBB, G6PD, GATA2, STAT1, IFIH1, NLRP3, MEFV, and SERPING1.MethodsThe data on 4825 pathogenic and benign AASs in the selected proteins were extracted from ClinVar and gnomAD. SSPR models were created for each protein using the MultiPASS software based on the Bayesian algorithm and different levels of MNA (Multilevel Neighborhoods of Atoms) descriptors for the representation of structural formulas of protein fragments including AAS.ResultsThe accuracy of prediction was assessed through a 5-fold cross-validation and compared to other bioinformatics tools, such as SIFT4G, Polyphen2 HDIV, FATHMM, MetaSVM, PROVEAN, ClinPred, and Alpha Missense. …”
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Exploring lipidome mediated inflammatory pathways in acute pancreatitis using mendelian randomization
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Creation of a recombinant Komagataella phaffii strain, a producer of proteinase K from Tritirachium album
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Ligilactobacillus agilis W70: a probiotic with capacity to enhance ammonia assimilation in the rumen
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