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...

Descripción completa

Detalles Bibliográficos
Autores principales: 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.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group US 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8257482/
https://www.ncbi.nlm.nih.gov/pubmed/33782553
http://dx.doi.org/10.1038/s41436-021-01134-9

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8257482/
https://www.ncbi.nlm.nih.gov/pubmed/33782553
http://dx.doi.org/10.1038/s41436-021-01134-9

Ejemplares similares