Id: 4349375 Decoding the Structural Cardiogenomics of Nav1.5: Integrating Alphafold Structural Context and Pmut Pathogenicity Scores to Prioritize Scn5a Missense Variants
Year: 2025
Type: article
Abstract: Variant interpretation in SCN5A, the gene encoding the cardiac sodium channel Nav1.5, is critical for diagnosing Brugada and long QT syndromes. Most SCN5A missense variants remain “uncertain” because functional patch-clamp assays are slow and sequence-based predictors yield many false positives. Adding AlphaFold’s 3-D context may sharpen pathogenicity calls but has not been systematically tested.
Source: Heart Rhythm O2
Authors: Alvaro E. Reyes-Quintero, Emmanuel Rojas Morales, Gabriela García Ordoñez, Luis E. Figuera Villanueva, Héctor Barajas Martínez
Language: English
Subfield: Cardiology and Cardiovascular Medicine
Field: Medicine
Domain: Health Sciences
Open Access status: gold
Estimated APC paid: $2,150
OpenAlex ID: W4413963559