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).
Please cite: 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.
May 22, 2014.
We have added two papers to the database, one on functional studies in DES mutations (Brodehl et al.) and one on a novel recessive inherited DSC2 mutation in ARVC (Al-Sabeq et al.):
March 11, 2014.
Cerrone et al. published results their PKP2 sequencing in a cohort of 200 proven Brugada syndrome patients without signs of arrhythmogenic cardiomyopathy and no mutations in BrS-related genes. Five missense variants were identified. These mutations were tested in HL-1-derived cells endogenously expressing NaV1.5 but made deficient in PKP2. Loss of PKP2 caused decreased INa and NaV1.5 at the site of cell contact. These deficits were restored by the transfection of wild-type PKP2, but not of the five Brugada syndrome-related PKP2 mutants.
|See article details
March 10, 2014.
We have added four additional papers to the database:
March 1, 2014.
We are working on an update of www.arvcdatabase.info. Therefore, until recently new papers and mutations have not been added to the database. We have now added several papers and are working on the remaining papers from 2013 and 2014.
We have added the following papers to the database:
View older news in the news archive.
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 genes in this database: DES, DSC2, DSG2, DSP, JUP, PKP2, TGFB3, TMEM43, TTN.
- 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).
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Last update: April 17, 2014