Article

A comprehensive framework for the interpretation of <i>TTN</i> missense variants

2025-07-18

Abstract excerpt

<h4>Background</h4> 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 computationa...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 4bc95cf6-056b-57ce-a95a-8205d8a5aea1
DOI: 10.1101/2025.07.17.25331109

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

A comprehensive framework for the interpretation of <i>TTN</i> missense variantsDOI 10.1101/2025.07.17.25331109Read

A comprehensive framework for the interpretation of TTN missense variantsSemantic proximity Read

A comprehensive framework for the interpretation of TTN missense variants.Semantic proximity Read

Interpreting Genetic Variants in Titin in Patients With Muscle Disorders.Semantic proximity Read

The burden of TTN variants in the genomic era: Analysis of 18,462 individuals from the Solve-RD consortium and general recommendations.Semantic proximity Read

TITINdb-a computational tool to assess titin's role as a disease gene.Semantic proximity Read

Relevance of Titin Missense and Non-Frameshifting Insertions/Deletions Variants in Dilated CardiomyopathySemantic proximity Read

Analysis of TTN Truncating Variants in >74 000 Cases Reveals New Clinically Relevant Gene RegionsSemantic proximity Read

The importance of an integrated genotype-phenotype strategy to unravel the molecular bases of titinopathies.Semantic proximity Read

Walking with giants: The challenges of variant impact assessment in the giant sarcomeric protein titinSemantic proximity Read

Improved Criteria for the Classification of Titin Variants in Inherited Skeletal MyopathiesSemantic proximity Read

Discerning the Ambiguous Role of Missense TTN Variants in Inherited Arrhythmogenic SyndromesSemantic proximity Read

A Review of the Giant Protein Titin in Clinical Molecular Diagnostics of CardiomyopathiesSemantic proximity Read