|Dr. Andrea Zatkova
|View all (unique) PubMed references in the HGD database
|Date of creation
|October 24, 2010
|November 01, 2023
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|Reference sequence file
|coding DNA reference sequence for describing sequence variants
|Genomic refseq ID
|Transcript refseq ID
|Exon/intron information table
|Total number of unique DNA variants reported
|Total number of individuals with variant(s)
|Total number of variants reported
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|Alkaptonuria (AKU) is a rare autosomal recessive disorder of both historical and medical interest. It represents a classical example of a discrete biochemical lesion resulting from a single gene deficiency that gives rise to a degenerative disease.
The HGD gene comprises 14 exons and spans 54.363 bp. The functional HGD protein is a hexamer, organized as a dimer of trimers.
The HGD-mutation database includes all HGD variants and AKU patients reported so far. Database also incorporates the data in the original AKU mutation database located in Madrid (updated last in 2001), in agreement with Prof. Santiago Rodriguez de Cordoba.
WHEN REFERRING TO THE DATABASE, PLEASE CITE:
Zatkova et al. (2012): Identification of eleven novel homogentisate 1,2 dioxygenase (HGD) variants in alkaptonuria (AKU) patients and establishment of a novel LOVD based HGD mutation database. JIMD Reports, 2012, Volume 4, 55-65.
More data can be downloaded here:
Predicted Structural Effect of the HGD gene Missense Variants
HGD haplotypes associated with AKU mutations
HGD haplotypes in the normal Spanish population
HGD haplotypes in the normal Slovak population
Expression and functional characterization of AKU alleles in E. Coli
HGD variants schematic
Mutations Aspergillus nidulans
Mutations Mus musculus
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|The contents of this LOVD database are the intellectual property of the respective curator(s). Any unauthorised use, copying, storage or distribution of this material without written permission from the curator(s) will lead to copyright infringement with possible ensuing litigation. Copyright © 2024. All Rights Reserved. For further details, refer to Directive 96/9/EC of the European Parliament and the Council of March 11 (1996) on the legal protection of databases.
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