Sequence-structure based prediction of pathogenicity for amino acid substitutions in proteins associated with primary immunodeficiencies

Sequence-structure based prediction of pathogenicity for amino acid substitutions in proteins associated with primary immunodeficiencies

IntroductionPrimary immunodeficiencies (PIDs) are a group of rare genetic disorders characterized by dysfunction of the immune system components. Early diagnosis and treatment are essential to prevent severe or life-threatening complications. PIDs are manifested by diverse clinical symptoms, posing...

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Main Authors:	Ekaterina S. Porfireva, Anton D. Zadorozhny, Anastasia V. Rudik, Dmitry A. Filimonov, Alexey A. Lagunin
Format:	Article
Language:	English
Published:	Frontiers Media S.A. 2025-02-01
Series:	Frontiers in Immunology
Subjects:	primary immunodeficiencies amino acid substitutions pathogenicity prediction sequence-structure-property relationships human genetic variation SAV-Pred
Online Access:	https://www.frontiersin.org/articles/10.3389/fimmu.2025.1492751/full
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