The DOI matches its Crossref record; 1 of the 1 references it cites were found in a registry or an index.
TITINdb2 – Expanding Annotation and Structural Information for Protein Variants in the Giant Sarcomeric Protein Titin
Open accessPreprint — published as 10.1093/bioadv/vbaf062 · Paper page
Abstract
Structured Abstract: Summary: We present TITINdb2, an update to the TITINdb database previously constructed to facilitate the identification of pathogenic missense variants in the giant protein titin, which are associated with a variety of skeletal and cardiac myopathies. The database and web portal have been substantially revised and include the following new features: (i) an increase in computational annotation from 4 to 20 variant impact predictors, available through a new custom data table dialogue; (ii) thorough structural coverage of single domains with AlphaFold2 predicted models; (iii) newly predicted domain-domain interface annotations; (iv) an expanded in silico saturation mutagenesis incorporating 4 variant impact predictors; (v) a comprehensive overhaul of available data, including population data sources and variants reported pathogenic in the literature; (vi) A curated mapping of existing protein, transcript and chromosomal sequence positions and a new variant conversion tool to translate variants in one format to any other format. Availability and Implementation: Database accessible via titindb.kcl.ac.uk/TITINdb/ Contact: Franca Fraternali ( f.fraternali@ucl.ac.uk ) Supplementary Information: Available
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Highly accurate protein structure prediction with AlphaFold
Jumper, J., Evans, R., Pritzel, A., Green, T., Figurnov, M., Ronneberger, O., Tunyasuvunakool, K., Bates, R., Žídek, A., Potapenko, A., et al. (2021) · Nature · doi:10.1038/s41586-021-03819-2 · Cited by 43,764
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Research works printed but not linked: 19
- Adzhubei I , Jordan DM , Sunyaev SR . Predicting Functional Effect of Human Missense Mutations Using PolyPhen-2. Curr Protoc Hum Genet 2013;07:Unit7.20. · DOI · Paper page
- 10.1093/nar/gkg601 · DOI
- 2023, Accurate proteome-wide missense variant effect prediction with AlphaMissense, Science, 0, eadg7492
- 10.1038/nmeth.3027 · DOI · Paper page
- 10.1016/j.ajhg.2011.03.004 · DOI
- 10.1016/j.ajhg.2016.08.016 · DOI · Paper page
- 10.1038/s41586-020-2308-7 · DOI · Paper page
- 10.1038/345273a0 · DOI
- 10.1002/j.1460-2075.1992.tb05222.x · DOI
- 10.1093/bioinformatics/btx424 · DOI
- 10.1038/nature19057 · DOI · Paper page
- 2020, dbNSFP v4: a comprehensive database of transcript-specific functional predictions and annotations for human nonsynonymous and splice-site SNVs, Genome Medicine, 12, 103, 10.1186/s13073-020-00803-9 · DOI
- 10.1093/oxfordjournals.jbchem.a131291 · DOI
- 10.1093/bioinformatics/btt691 · DOI · Paper page
- 10.1093/nar/gku411 · DOI · Paper page
- 2020, Rhapsody: predicting the pathogenicity of human missense variants, Bioinformatics, 36, 3084, 10.1093/bioinformatics/btaa127 · DOI
- 10.1038/nature15393 · DOI · Paper page
- 2024, Walking with giants: The challenges of variant impact assessment in the giant sarcomeric protein titin, WIREs Mechanisms of Disease, 16, e1638, 10.1002/wsbm.1638 · DOI
- 10.1002/pro.3330 · DOI · Paper page
Metadata
- Authors
- Weston, T., Ng, J. C.-F., Gracia Carmona, O., Gautel, M., & Fraternali, F.
- Affiliations
- King's College London (GB)
- Institute of Structural and Molecular Biology (GB)
- Corresponding author
- Fraternali, F.
- Venue
- Bioinformatics Advances
- Publisher
- openRxiv
- Published
- 2024-05-10
- Volume
- 5
- Issue
- 1
- Pages
- vbaf062-vbaf062
- ISSN
- 2635-0041 (ISSN-L)
- PMC
- PMC12017618
- OpenAlex
- W4408746407
- Cited by
- 3
- References
- 1
- Citations by year
- 2026: 2 · 2025: 1
- FWCI
- 0.80
- Type
- journal article
- Language
- en
- Open access
- gold
- doi.org
- Licence
- cc-by
- Locations
- Bioinformatics Advances (publishedVersion, cc-by)
- bioRxiv (Cold Spring Harbor Laboratory) (acceptedVersion)
- PubMed Central (publishedVersion, cc-by)
- PubMed (publishedVersion)
- Funders
- Heart Foundation (RG/F/22/110079, RG/15/8/31480)
- NIHR Biomedical Research Centre, Royal Marsden NHS Foundation Trust/Institute of Cancer Research
- National Institute for Health and Care Research
- Biotechnology and Biological Sciences Research Council (BB/T002212/1)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
- Health Sciences › Medicine › Cardiology and Cardiovascular Medicine › Cardiomyopathy and Myosin Studies
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Genomics and Phylogenetic Studies
- Keywords
- titin, skeletal myopathy, cardiomyopathy, domain-domain interfaces, saturation mutagenesis, variant annotation
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