Sequence-structure based prediction of pathogenicity for amino acid substitutions in proteins associated with primary immunodeficiencies
The best created SSPR models for the prediction of pathogenicity of amino acid substitutions related with PIDs have been implemented in a freely available web application SAV-Pred (Single Amino acid Variants Predictor, http://www.way2drug.com/SAV-Pred/), which may be a useful tool for medical geneticists and clinicians. The use of SAV-Pred for some clinical cases of PIDs are provided.
Authors
- Anton D. Zadorozhny (ORCID: https://orcid.org/0000-0002-0160-8793)
- Anastasia V. Rudik (ORCID: https://orcid.org/0000-0002-8916-9675)
- Dmitry Filimonov (ORCID: https://orcid.org/0000-0002-0339-8478)
- Alexey A. Lagunin (ORCID: https://orcid.org/0000-0003-1757-8004)
- Ekaterina S. Porfireva
Institutions
- Pirogov Russian National Research Medical University (RU)
- Institute of Biomedical Chemistry (RU)
Publication Details
- Journal
- Frontiers in Immunology
- Published
- 2025-02-05
- DOI
- https://doi.org/10.3389/fimmu.2025.1492751
- Primary Topic
- Immunodeficiency and Autoimmune Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Ministry of Science and Higher Education of the Russian Federation