title: The Human Intermediate Filament Database: comprehensive information on a gene family involved in many human diseases.
abstract: We describe a revised and expanded database on human intermediate filament proteins, a major component of the eukaryotic cytoskeleton. The family of 70 intermediate filament genes (including those encoding keratins, desmins, and lamins) is now known to be associated with a wide range of diverse diseases, at least 72 distinct human pathologies, including skin blistering, muscular dystrophy, cardiomyopathy, premature aging syndromes, neurodegenerative disorders, and cataract. To date, the database catalogs 1,274 manually-curated pathogenic sequence variants and 170 allelic variants in intermediate filament genes from over 459 peer-reviewed research articles. Unrelated cases were collected from all of the six sequence homology groups and the sequence variations were described at cDNA and protein levels with links to the related diseases and reference articles. The mutations and polymorphisms are presented in parallel with data on protein structure, gene, and chromosomal location and basic information on associated diseases. Detailed statistics relating to the variants records in the database are displayed by homology group, mutation type, affected domain, associated diseases, and nucleic and amino acid substitutions. Multiple sequence alignment algorithms can be run from queries to determine DNA or protein sequence conservation. Literature sources can be interrogated within the database and external links are provided to public databases. The database is freely and publicly accessible online at www.interfil.org (last accessed 13 September 2007). Users can query the database by various keywords and the search results can be downloaded. It is anticipated that the Human Intermediate Filament Database (HIFD) will provide a useful resource to study human genome variations for basic scientists, clinicians, and students alike.
authors.affiliation: Epithelial Biology Group, Institute of Medical Biology, Singapore.
authors.forename: Ildiko
authors.initials: I
authors.lastname: Szeverenyi
authors.forename: Andrew J
authors.initials: AJ
authors.lastname: Cassidy
authors.forename: Cheuk Wang
authors.initials: CW
authors.lastname: Chung
authors.forename: Bernett T K
authors.initials: BT
authors.lastname: Lee
authors.forename: John E A
authors.initials: JE
authors.lastname: Common
authors.forename: Stephen C
authors.initials: SC
authors.lastname: Ogg
authors.forename: Huijia
authors.initials: H
authors.lastname: Chen
authors.forename: Shu Yin
authors.initials: SY
authors.lastname: Sim
authors.forename: Walter L P
authors.initials: WL
authors.lastname: Goh
authors.forename: Kee Woei
authors.initials: KW
authors.lastname: Ng
authors.forename: John A
authors.initials: JA
authors.lastname: Simpson
authors.forename: Li Lian
authors.initials: LL
authors.lastname: Chee
authors.forename: Goi Hui
authors.initials: GH
authors.lastname: Eng
authors.forename: Bin
authors.initials: B
authors.lastname: Li
authors.forename: Declan P
authors.initials: DP
authors.lastname: Lunny
authors.forename: Danny
authors.initials: D
authors.lastname: Chuon
authors.forename: Aparna
authors.initials: A
authors.lastname: Venkatesh
authors.forename: Kian Hoe
authors.initials: KH
authors.lastname: Khoo
authors.forename: W H Irwin
authors.initials: WH
authors.lastname: McLean
authors.forename: Yun Ping
authors.initials: YP
authors.lastname: Lim
authors.forename: E Birgitte
authors.initials: EB
authors.lastname: Lane
mesh_terms: D000465:Algorithms; D000595:Amino Acid Sequence; D001483:Base Sequence; D002874:Chromosome Mapping; D018076:DNA, Complementary / Q000235:genetics; D030541:Databases, Genetic; D006801:Humans; D007381:Intermediate Filament Proteins / Q000235:genetics*; D008969:Molecular Sequence Data; D005810:Multigene Family; D009154:Mutation; D011110:Polymorphism, Genetic; D016415:Sequence Alignment / Q000706:statistics & numerical data; D017386:Sequence Homology, Amino Acid; D012689:Sequence Homology, Nucleic Acid
chemical_list: D018076:DNA, Complementary; D007381:Intermediate Filament Proteins