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- Predictive modeling of novel gene mutations in left ventricular noncompaction cardiomyopathy: In silico analyses and future directionsPublication . Ferreira, André Fialho; Bragança, JoséLeft ventricular noncompaction (LVNC) is a heterogeneous cardiomyopathy characterized by a prominent trabecular meshwork in the left ventricle. The diagnosis of LVNC is primarily based on imaging techniques, such as echocardiography and cardiac magnetic resonance imaging (CMR). The genetic basis of LVNC is complex and is associated with mutations in several genes encoding sarcomeric, cytoskeletal, and other proteins. This research project focused on the bioinformatic analysis of mutations in eight genes encoding for—PTPRB, SCN10A, ZSCAN10, ABHD5, ADM, GLMN, PNMT, and NOTCH3 proteins that were identified in LVNC patients. These proteins are involved in various cellular processes, including cell signaling, vascular development, lipid metabolism, and transcriptional regulation. The mutations were analyzed using multiple computational tools, including PolyPhen-2, SIFT, MutationTaster, AlphaFold, ChimeraX and Align-GVGD, to predict their potential impact on protein function and structure. The results of the analysis revealed varying predictions, with some mutations classified as "Probably Damaging" and others as "Benign" or "Tolerated." These findings highlight the challenges of predicting the pathogenicity of mutations and the need for experimental validation to confirm their functional impact. This study contributes to the understanding of the genetic basis of LVNC and provides a foundation for future research aimed at developing more accurate diagnostic tools and targeted therapeutic strategies.