Article
TITINdb-a computational tool to assess titin's role as a disease gene.
Bioinformatics (Oxford, England) - 1 Nov 2017
Laddach Anna, Gautel Mathias, Fraternali Franca
Abstract excerpt
SUMMARY: Large numbers of rare and unique titin missense variants have been discovered in both healthy and disease cohorts, thus the correct classification of variants as pathogenic or non-pathogenic has become imperative. Due to titin's large size (363 coding exons), current web applications are unable to map titin variants to domain structures. Here, we present a web application, TITINdb, which integrates titin...
Topics
- Connectin
- Disease
- Genetic Predisposition to Disease
- Genetic Variation
- Protein Isoforms
- Software