Computational prediction of protein subdomain stability in MYBPC3 enables clinical risk stratification in hypertrophic cardiomyopathy and enhances variant interpretation

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 t...

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發表在:Genet Med
Main Authors: 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.
格式: Artigo
語言:Inglês
出版: Nature Publishing Group US 2021
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在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC8257482/
https://ncbi.nlm.nih.gov/pubmed/33782553
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41436-021-01134-9
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