Journal article

A(1)ATVar: A Relational Database of Human SERPINA1 Gene Variants Leading to alpha(1)-Antitrypsin Deficiency and Application of the VariVis Software

Sophia Zaimidou, Sjozef van Baal, Timothy D Smith, Konstantinos Mitropoulos, Mila Ljujic, Dragica Radojkovic, Richard G Cotton, George P Patrinos

HUMAN MUTATION | WILEY-BLACKWELL | Published : 2009

Abstract

We have developed a relational database of human SERPINA1 gene mutations, leading to alpha(1)-antitrypsin (AAT) deficiency, called A(1)ATVar, which can be accessed over the World Wide Web at www.goldenhelix.org/A1ATVar. Extensive information has been extracted from the literature and converted into a searchable database, including genotype information, clinical phenotype, allelic frequencies for the commonest AAT variant alleles, methods of detection, and references. Mutation summaries are automatically displayed and user-generated queries can be formulated based on fields in the database. A separate module, linked to the FINDbase database for frequencies of inherited disorders allows the us..

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University of Melbourne Researchers