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ABSTRACT

Comprehensive overview of K14 sequence variants. Keratin 14 (K14) data. Individual protein record can be accessed via gene symbols or navigation bar. 1. Number of records in the database. K14 mRNA information. K14 protein information. 2. New variants submission form.

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ABSTRACT

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  1. Comprehensive overview of K14 sequence variants Keratin 14 (K14) data Individual protein record can be accessed via gene symbols or navigation bar 1. Number of records in the database K14 mRNA information K14 protein information 2. New variants submission form K14 associated diseases K14 orthologous sequences and their multiple alignments viewed in Jalview (Clamp et al., 2004) 3. Search by predetermined drop-down menu K14 sequence variants K14 allelic variants 4. Multiple sequence alignment by queries I Szeverenyi1, AJ Cassidy3, CW Chung2, BTK Lee2, JEA Common1, SC Ogg1, HJ Chen1, SY Sim1, D Chuon2, SYL Tay2, KW Ng1, JA Simpson4, W Goh1, LL Chee1, GH Eng1, A Venkatesh1, B Li1,2, KH Khoo1, WHI McLean3, YP Lim2, EB Lane1,4 1Centre for Molecular Medicine, Proteos, 61 Biopolis Drive, Singapore 138673; 2Bioinformatics Institute, Matrix, Biopolis, Singapore 138671; 3Human Genetics Unit, Division of Pathology and Neuroscience, University of Dundee Ninewells Hospital and Medical School, Dundee DD1 9SY, UK; 4School of Life Sciences, University of Dundee, Dundee DD1 5EH. ABSTRACT Mutations in intermediate filament genes are responsible for a range of diverse human disorders, including forms of skin blistering, muscular dystrophy, cardiomyopathy and premature ageing syndromes. Expression of these genes, and their small number of alternative splice products, is highly tissue-specific. It is now known, from studies on the human diseases, that intermediate filaments are essential for tissue function as they provide resilience to cells for maintenance of tissue integrity and structure. Working from a prototype created five years ago at the University of Dundee, we present here an updated and expanded Human Intermediate Filament Database (HIFD), which can be accessed at www.interfil.org. This current database sorts reported pathogenic sequence variants in intermediate filament genes and maps them onto consensus reference sequences, presented in parallel with basic data on protein, gene and chromosomal location, along with information on associated diseases. HIFD integrates data from variety of resources (PubMed, NCBI, OMIM, HGNC, UCSC Genome Browser) allowing them to be accessed from single web portal. Users are encouraged to submit information on new intermediate filament variants to HIFD. Contact us at interfil@bii.a-star.edu.sg 5. INDIVIDUAL PROTEIN INFORMATION PAGES • DATABASE FEATURES • Easy navigation with navigation bar • Statistics, sequences and search results can be download. • Online curation portal allows curators to incorporate new data or edit the existing ones. • Updates and expansion continuing NAVIGATION BAR K14 protein domains 2. 1. 5. 3. 4.

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