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In Vivo Modeling of the Morbid Human Genome using Danio rerio
Published on: August 24, 2013
TITINdb-a computational tool to assess titin's role as a disease gene
Anna Laddach1, Mathias Gautel1, Franca Fraternali1
1Randall Division of Cell and Molecular Biophysics, King's College London BHF Centre of Research Excellence, London SE1 1UL, UK.
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 structure, variant, sequence and isoform information, along with pre-computed predictions of the impact of non-synonymous single nucleotide variants, to facilitate the correct classification of titin variants.
Availability And Implementation:
TITINdb can be freely accessed at http://fraternalilab.kcl.ac.uk/TITINdb.
Contact:
franca.fraternali@kcl.ac.uk.
Supplementary Information:
Supplementary data are available at Bioinformatics online.
