Article
Computational prediction of protein subdomain stability in MYBPC3 enables clinical risk stratification in hypertrophic cardiomyopathy and enhances variant interpretation.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Jul 2021
Thompson Andrea D, Helms Adam S, Kannan Anamika, Yob Jaime, Lakdawala Neal K, Wittekind Samuel G, Pereira Alexandre C, Jacoby Daniel L, Colan Steven D, Ashley Euan A, Saberi Sara, Ware James S, Ingles Jodie, Semsarian Christopher, Michels Michelle, Mazzarotto Francesco, Olivotto Iacopo, Ho Carolyn Y, Day Sharlene M
Abstract excerpt
PURPOSE: Variants in MYBPC3 causing loss of function are the most common cause of hypertrophic cardiomyopathy (HCM). However, a substantial number of patients carry missense variants of uncertain significance (VUS) in MYBPC3. We hypothesize that a structural-based algorithm, STRUM, which estimates the effect of missense variants on protein folding, will identify a subgroup of HCM patients with a MYBPC3 VUS...
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