title: HAEdb: a novel interactive, locus-specific mutation database for the C1 inhibitor gene.
abstract: Hereditary angioneurotic edema (HAE) is an autosomal dominant disorder characterized by episodic local subcutaneous and submucosal edema and is caused by the deficiency of the activated C1 esterase inhibitor protein (C1-INH or C1INH; approved gene symbol SERPING1). Published C1-INH mutations are represented in large universal databases (e.g., OMIM, HGMD), but these databases update their data rather infrequently, they are not interactive, and they do not allow searches according to different criteria. The HAEdb, a C1-INH gene mutation database (http://hae.biomembrane.hu) was created to contribute to the following expectations: 1) help the comprehensive collection of information on genetic alterations of the C1-INH gene; 2) create a database in which data can be searched and compared according to several flexible criteria; and 3) provide additional help in new mutation identification. The website uses MySQL, an open-source, multithreaded, relational database management system. The user-friendly graphical interface was written in the PHP web programming language. The website consists of two main parts, the freely browsable search function, and the password-protected data deposition function. Mutations of the C1-INH gene are divided in two parts: gross mutations involving DNA fragments >1 kb, and micro mutations encompassing all non-gross mutations. Several attributes (e.g., affected exon, molecular consequence, family history) are collected for each mutation in a standardized form. This database may facilitate future comprehensive analyses of C1-INH mutations and also provide regular help for molecular diagnostic testing of HAE patients in different centers.
authors.affiliation: Laboratory of Molecular Genetics, National Medical Center, Institute of Hematology and Immunology, Budapest, Hungary.
authors.forename: Lajos
authors.initials: L
authors.lastname: Kalmár
authors.forename: Tamás
authors.initials: T
authors.lastname: Hegedüs
authors.forename: Henriette
authors.initials: H
authors.lastname: Farkas
authors.forename: Melinda
authors.initials: M
authors.lastname: Nagy
authors.forename: Attila
authors.initials: A
authors.lastname: Tordai
mesh_terms: D000799:Angioedema / Q000235:genetics; D001483:Base Sequence; D003174:Complement C1 Inactivator Proteins / Q000235:genetics*; D050718:Complement C1 Inhibitor Protein; D004247:DNA; D030541:Databases, Genetic; D006801:Humans; D020407:Internet; D008969:Molecular Sequence Data; D009154:Mutation; D015843:Serpins / Q000235:genetics*; D009626:Terminology as Topic
chemical_list: D003174:Complement C1 Inactivator Proteins; D050718:Complement C1 Inhibitor Protein; C469952:SERPING1 protein, human; D015843:Serpins; D004247:DNA