Molecular Consequence Modeling of Mitochondrial Gene Variants: A Functional Defect Classification System for Precision Drug Design
收藏资源简介:
Data deposit accompanying the manuscript: "Molecular Consequence Modeling of Mitochondrial Gene Variants: A Functional Defect Classification System for Precision Drug Design." This dataset contains the defect registry mapping pathogenic variants to pharmacological rescue classes for 25 mitochondrial disease targets. Each entry links a ClinVar variant identifier to its ACMG/AMP classification, molecular consequence (missense, nonsense, frameshift, splice site), predicted functional defect, and assigned rescue class (activator, stabilizer, cofactor supplementation, bypass, inhibitor). Supporting data includes binding pocket characterizations and the ClinVar/ACMG supplementary table. Patent pending: US Provisional Application 64/018,624, filed March 27, 2026. This deposit contains research data only. Manuscript series: DrugSynth AI / MitoCorex — Computational Drug Discovery for Mitochondrial Diseases (10 manuscripts).



