ARVD/C Genetic Variants Database

Curators: Paul van der Zwaag, Jan Jongbloed and Peter van Tintelen
Dept. of Genetics, University Medical Center Groningen, Groningen, The Netherlands

This database is a work in progress. It contains information from clinical research and other types of data on variants in genes causing Arrhythmogenic Right Ventricular Dysplasia/ Cardiomyopathy (ARVD/C).

Find variants/mutations Gene symbol: Reported Classification: Type: Results per page:

News

February 5, 2010.

Xu et al. described the results of genetic testing in 198 ARVD/C probands from the U.S. and Italy. Their results include novel and previously reported mutations. They identified compound and digenic heterozygosity in many cases, suggesting that all desmosome-encoding genes should be screened in ARVD/C patients.
See article details

December 28, 2009.

Christensen et al. described the results of genetic testing of PKP2 in 53 ARVD/C patients from Denmark. Their results include several novel mutations and the finding of previously reported disease-causing mutations at a low frequency among healthy controls (D26N, S140F, and V587I), suggesting that these variants are disease modifying but not directly disease causing.
See article details

View older news in the news archive.

Reference: van der Zwaag PA, Jongbloed JD, van den Berg MP, van der Smagt JJ, Jongbloed R, Bikker H, Hofstra RM, van Tintelen JP. A genetic variants database for arrhythmogenic right ventricular dysplasia/cardiomyopathy. Hum Mutat. 2009; 30(9): 1278-83.

General remarks/ Disclaimer

This software and data are provided to enhance knowledge and encourage progress in the scientific community and are to be used only for research and educational purposes. Any reproduction or use for commercial purpose is prohibited without the prior express written permission of University Medical Center Groningen.

Reference sequences for the 8 genes in this database: DSC2 , DSG2, DSP, JUP, PKP2, TGFB3, TMEM43, TP63

Mutation nomenclature follows the standard reported here: http://www.hgvs.org/mutnomen/

Numbering of nucleotides starts at the first position of the methionine start-codon.

Controls are displayed as the number of mutations found in a number of control chromosomes.

The classification of the variants is as listed in the corresponding article(s).

Synonymous mutations not listed in dbSNP and not tested in controls are classified as Unclassified Variants.
To help interpret the effect of missense mutations, we provide data obtained from three in silico prediction methods: the Grantham score, PolyPhen and SIFT.
The classification of a variant can change as a result of (a) new publication(s). These changes will be listed under 'news'

Work on this database is financially supported by the Department of Genetics of the University Medical Center Groningen, the Netherlands,
and by a grant from the Netherlands Heart Foundation (2007B132).