title: The Alport syndrome COL4A5 variant database.
abstract: Alport Syndrome is a progressive renal disease with cochlear and ocular involvement. The most common form ( approximately 80%) is inherited in an X-linked pattern. X-linked Alport Syndrome (XLAS) is caused by mutations in the type IV collagen alpha chain 5 (COL4A5). We have developed a curated disease-specific database containing reported sequence variants in COL4A5. Currently the database archives a total of 520 sequence variants, verified for their position within the COL4A5 gene and named following standard nomenclature. Sequence variants are reported with accompanying information on protein effect, classification of mutation vs. polymorphism, mutation type based on the first description in the literature, and links to pertinent publications. In addition, features of this database include disease information, relevant links for Alport syndrome literature, reference sequence information, and ability to query by various criteria. On-line submission for novel gene variants or updating information on existing database entries is also possible. This free online scientific resource was developed with the clinical laboratory in mind to serve as a reference and repository for COL4A5 variants.
authors.affiliation: ARUP Laboratories, Department of Pathology, University of Utah School of Medicine, Salt Lake City, UT, USA. david.crockett@aruplab.com
authors.forename: David K
authors.initials: DK
authors.lastname: Crockett
authors.forename: Genevieve
authors.initials: G
authors.lastname: Pont-Kingdon
authors.forename: Frederick
authors.initials: F
authors.lastname: Gedge
authors.forename: Kelli
authors.initials: K
authors.lastname: Sumner
authors.forename: Ryan
authors.initials: R
authors.lastname: Seamons
authors.forename: Elaine
authors.initials: E
authors.lastname: Lyon
mesh_terms: D022126:Access to Information; D001483:Base Sequence; D024141:Collagen Type IV / Q000235:genetics*; D030541:Databases, Genetic; D006801:Humans; D009154:Mutation / Q000235:genetics*; D009394:Nephritis, Hereditary / Q000235:genetics*; D012984:Software
chemical_list: C478159:COL4A5 protein, human; D024141:Collagen Type IV