Protein modeling and in silico analysis to assess pathogenicity of < em > ABCA4 < /em > variants in patients with inherited retinal disease

CONCLUSIONS: In this report, we describe a systematic approach to predicting the pathogenicity of ABCA4 variants by means of three-dimensional (3D) protein modeling and in silico structure analysis. Our results demonstrate concordance between disease severity and structural changes in protein models induced by genetic variations. Furthermore, the present study suggests that in silico protein structure analysis can be used as a predictor of pathogenicity and may facilitate the assessment of genetic VUS.PMID:38222458 | PMC:PMC10784225

Source: Molecular Vision - January 15, 2024 Category: Molecular Biology Authors: Senem Cevik Nutsuchar Wangtiraumnuay Kristof Van Schelvergem Mai Tsukikawa Jenina Capasso Subhasis B Biswas Barry Bodt Alex V Levin Esther Biswas-Fiss Source Type: research