Article
A comprehensive framework for the interpretation of TTN missense variants.
Genome medicine - 26 Feb 2026
Di Feo Maria Francesca, Rees Martin, Lillback Victoria, Kho Ay Lin, Meybatova Angelina, Holt Mark, Jungbluth Heinz, Muntoni Francesco, Baranello Giovanni, Sarkozy Anna, Fiorillo Chiara, Baratto Serena, Bruno Claudio, Traverso Monica, Iacomino Michele, Pedemonte Marina, Brolatti Noemi, Faravelli Francesca, Zara Federico, Mandarà G M Luana, Beggs Alan H, Genetti Casie A, Barraza-Flores Pamela, Rodolico Carmelo, Messina Sonia, Schnabel Franziska, Balogh Istvan, Szakszon Katalin, Sarv Siiri, Õunap Katrin, Ricci Federica Silvia, Mussa Alessandro, Malfatti Edoardo, Bertini Enrico Silvio, D'Amico Adele, Diodato Daria, Catteruccia Michela, Ravenscroft Gianina, Johari Mridul, Kurbatov Sergei A, Chausova Polina, Murtazina Aysylu, Kuchina Anna, Shchagina Olga, Drakos Minas, Spilioti Martha, Evangeliou Athanasios E, Zaganas Ioannis, Zhong Huahua, Luo Sushan, Merlini Luciano, Nguyen Cam-Tu-Emilie, Tasca Giorgio, Reeves Tara, Mörner Stellan, Danielsson Olof, Udd Bjarne, Gautel Mathias, Savarese Marco
Abstract excerpt
BACKGROUND: Missense variants in TTN pose a major challenge in genetic diagnostics due to their high frequency in the general population, the large size of the gene, and the complex multidomain architecture of the titin protein. While the contribution of truncating variants (TTNtv) to titinopathies is well established, the role of rare TTN missense variants remains poorly defined. Advances in computational...
Topics
- Humans
- Mutation, Missense
- Connectin
- Phenotype