Alport syndrome COL4A5 variant database

• Published in: Human mutation Vol. 31; no. 8; pp. E1652 - E1657
• Main Authors: Crockett, David K, Pont-Kingdon, Genevieve, Gedge, Frederick, Sumner, Kelli, Seamons, Ryan, Lyon, Elaine
• Format: Journal Article
• Language: English
• Published: Hoboken Wiley Subscription Services, Inc., A Wiley Company 01.08.2010; Hindawi Limited
• Subjects: Access to Information; ALPORT syndrome; Base Sequence; COL4A5; Collagen Type IV - genetics; Databases, Genetic; gene variant; Humans; Mutation - genetics; mutation database; Nephritis, Hereditary - genetics; phenotype; Software
• ISSN: 1059-7794; 1098-1004; 1098-1004
• DOI: 10.1002/humu.21312

Alport Syndrome is a progressive renal disease with cochlear and ocular involvement. The most common form (~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.