Novel IGFALS mutations with predicted pathogenetic effects by the analysis of AlphaFold structure

• Published in: Endocrine Vol. 79; no. 2; pp. 292 - 295
• Main Authors: Franzoni, Alessandra, Baldan, Federica, Passon, Nadia, Mio, Catia, Driul, Daniela, Cogo, Paola, Fogolari, Federico, D’Aurizio, Federica, Damante, Giuseppe
• Format: Journal Article
• Language: English
• Published: New York Springer US 01.02.2023; Springer Nature B.V
• Subjects: Algorithms; Artificial Intelligence; Brief Report; Carrier Proteins - genetics; Diabetes; Endocrinology; Female; Genetic counseling; Genetic screening; Glycoproteins - genetics; Growth hormones; Humanities and Social Sciences; Humans; Insulin-like growth factor I; Insulin-like growth factor-binding protein 3; Internal Medicine; Medicine; Medicine & Public Health; multidisciplinary; Mutation; Protein interaction; Protein structure; Proteins; Science; Exome; Short stature; IGFALS; Mutation

Purpose According to the American College of Medical Genetics (ACMG) classification, variants of uncertain significance (VUS) are gene variations whose impact on the disease risk is not yet known. VUS, therefore, represent an unmet need for genetic counselling. Aim of the study is the use the AlphaF...