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

ABSTRACT:

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

[e-mail].

Supple

SUBMITTER: Laddach A 

PROVIDER: S-EPMC5860166 | biostudies-literature | 2017 Nov

REPOSITORIES: biostudies-literature