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Sequence variation database for the Wilson disease copper transporter, ATP7B
Author(s) -
Kenney Susan M.,
Cox Diane W.
Publication year - 2007
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/humu.20586
Subject(s) - biology , disease , database , atp7a , gene , population , genetics , mutation , transporter , pathology , medicine , environmental health , computer science
Wilson disease (WND) is a disorder of copper transport resulting in copper accumulation in liver, kidney, and brain. This recessive disorder expresses variable clinical symptoms affecting liver, brain, and/or kidney. The age of onset of symptoms varies from 3 to almost 70 years, so the diagnosis for this treatable disorder is easily missed. The defective gene is a membrane P‐type ATPase, with similar structure to the other metal transporting ATPases. Most patients with Wilson disease are compound heterozygotes. This report describes the database we have developed for reporting of mutations in ATP7B , the gene defective in WND. The database includes more than 518 variants (379 probable disease‐causing and the remainder possible normal variants) from populations worldwide (Available at: www.medicalgenetics.med.ualberta.ca/wilson/index.php ; Last accessed: 20 June 2007). The tables in this database are a valuable resource for the study of population variation and the function of the transporter, and will assist in the identification of disease and non‐disease‐causing sequence variants. Hum Mutat 28(12), 1171–1177, 2007. © 2007 Wiley‐Liss, Inc.