TITINdb: A computational tool to assess titin's role as a disease gene

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Abstract

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.
Original languageEnglish
Pages (from-to)3482-3485
JournalBIOINFORMATICS
Volume33
Issue number21
Early online date4 Jul 2017
DOIs
Publication statusPublished - 1 Nov 2017

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