{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,27]],"date-time":"2026-02-27T02:41:22Z","timestamp":1772160082056,"version":"3.50.1"},"reference-count":22,"publisher":"Oxford University Press (OUP)","issue":"21","license":[{"start":{"date-parts":[[2017,7,4]],"date-time":"2017-07-04T00:00:00Z","timestamp":1499126400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100000274","name":"British Heart Foundation","doi-asserted-by":"publisher","award":["RE\/13\/2\/30182"],"award-info":[{"award-number":["RE\/13\/2\/30182"]}],"id":[{"id":"10.13039\/501100000274","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000274","name":"British Heart Foundation","doi-asserted-by":"publisher","award":["RG\/15\/8\/31480"],"award-info":[{"award-number":["RG\/15\/8\/31480"]}],"id":[{"id":"10.13039\/501100000274","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000274","name":"British Heart Foundation","doi-asserted-by":"publisher","award":["CH\/08\/001"],"award-info":[{"award-number":["CH\/08\/001"]}],"id":[{"id":"10.13039\/501100000274","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000268","name":"Biotechnology and Biological Sciences Research Council","doi-asserted-by":"publisher","award":["BB\/H018409\/1"],"award-info":[{"award-number":["BB\/H018409\/1"]}],"id":[{"id":"10.13039\/501100000268","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2017,11,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:sec>\n                  <jats:title>Summary<\/jats:title>\n                  <jats:p>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\u2019s 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.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Availability and implementation<\/jats:title>\n                  <jats:p>TITINdb can be freely accessed at http:\/\/fraternalilab.kcl.ac.uk\/TITINdb<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Supplementary information<\/jats:title>\n                  <jats:p>Supplementary data are available at Bioinformatics online.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1093\/bioinformatics\/btx424","type":"journal-article","created":{"date-parts":[[2017,7,3]],"date-time":"2017-07-03T11:10:39Z","timestamp":1499080239000},"page":"3482-3485","source":"Crossref","is-referenced-by-count":43,"title":["TITINdb\u2014a computational tool to assess titin\u2019s role as a disease gene"],"prefix":"10.1093","volume":"33","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-5552-6534","authenticated-orcid":false,"given":"Anna","family":"Laddach","sequence":"first","affiliation":[{"name":"Randall Division of Cell and Molecular Biophysics, King\u2019s College London BHF Centre of Research Excellence, London, UK"}]},{"given":"Mathias","family":"Gautel","sequence":"additional","affiliation":[{"name":"Randall Division of Cell and Molecular Biophysics, King\u2019s College London BHF Centre of Research Excellence, London, UK"}]},{"given":"Franca","family":"Fraternali","sequence":"additional","affiliation":[{"name":"Randall Division of Cell and Molecular Biophysics, King\u2019s College London BHF Centre of Research Excellence, London, UK"}]}],"member":"286","published-online":{"date-parts":[[2017,7,4]]},"reference":[{"key":"2023051506353127500_btx424-B1","doi-asserted-by":"crossref","first-page":"68","DOI":"10.1038\/nature15393","article-title":"A global reference for human genetic variation","volume":"526","author":"Auton","year":"2015","journal-title":"Nature"},{"key":"2023051506353127500_btx424-B2","doi-asserted-by":"crossref","first-page":"3364","DOI":"10.1093\/nar\/gkg601","article-title":"POPS: a fast algorithm for solvent accessible surface areas at atomic and residue level","volume":"31","author":"Cavallo","year":"2003","journal-title":"Nucleic Acids Res"},{"key":"2023051506353127500_btx424-B3","doi-asserted-by":"crossref","first-page":"1046","DOI":"10.1002\/humu.22611","article-title":"A rising titan: TTN review and mutation update","volume":"35","author":"Chauveau","year":"2014","journal-title":"Hum. 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Genet"},{"key":"2023051506353127500_btx424-B9","doi-asserted-by":"crossref","first-page":"426","DOI":"10.1161\/CIRCGENETICS.116.001431","article-title":"Combination of whole genome sequencing, linkage, and functional studies implicates a missense mutation in titin as a cause of autosomal dominant cardiomyopathy with features of left ventricular noncompaction","volume":"9","author":"Hastings","year":"2016","journal-title":"Circ. Cardiovasc. Genet"},{"key":"2023051506353127500_btx424-B10","doi-asserted-by":"crossref","first-page":"392","DOI":"10.1161\/CIRCGENETICS.116.001594","article-title":"Wrestling the giant: new approaches for assessing titin variant pathogenicity","volume":"9","author":"Helle","year":"2016","journal-title":"Circ. Cardiovasc. 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