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.
Find variants/mutations
 

News

April 17, 2014.

Pugh et al. reported the results of gene panel testing in a large cohort of 766 DCM patients. Mutations in DSP were identified in 2.4% of patients. Those variants that were identified in genes previously related to ARVC are added to the database.
See article details

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 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:

- Ostrowska Dahlgren et al. Journal of Interventional Cardiac Electrophysiology 2012.See article details
- Larsen et al. Forensic Science International 2012.See article details
- Quarta et al. European Heart Journal 2012.See article details
- Nakajima et al. Circulation Journal 2012.See article details
- Rajkumar et al. BMC medical genetics 2012.See article details
- Kirchner et al. Circulation Cardiovascular Genetics 2012.See article details
- van der Zwaag et al. European Journal of Heart Failure 2012.See article details
- te Riele et al. JACC Cardiovascular Imaging 2012.See article details
- Keller et al. Swiss Medical Weekly 2012.See article details
- Gaertner et al. PLoS One 2012.See article details
- van der Smagt et al. Cardiology 2012.See article details
- Anastasakis et al. Cardiology 2012.See article details
- Ma et al. European Heart Journal 2013.See article details
- Noorman et al. Heart Rhythm 2013.See article details
- van Hengel et al. European Heart Journal 2013.See article details
- Lorenzon et al. American Journal of Cardiology 2013.See article details
- Groeneweg et al. Heart Rhythm 2013.See article details
- Kim et al. Nature 2013.See article details
- Rasmussen et al. Human Mutation 2013.See article details
- Li Mura et al. European Journal of Human Genetics 2013.See article details
- van der Zwaag et al. Netherlands Heart Journal 2013.See article details
- Lahtinen et al. Annals of Medicine 2013.See article details
- Baskin et al. Human Genetics 2013.See article details
- Gerull et al. Circulation Cardiovascular Genetics 2013.See article details
- Campuzano et al. European Journal of Medical Genetics 2013.See article details
- Kumar et al. Heart Rhythm 2013.See article details
- Ohno et al. Circulation Journal 2013.See article details
- Saguner et al. Circulation 2013.See article details
- Rigato et al. Circulation Cardiovascular Genetics 2013.See article details
- Vite et al. PLoS One 2013.See article details
- Bao et al. Circulation Cardiovascular Genetics 2013.See article details
- Brodehl et al. Circulation Cardiovascular Genetics 2013.See article details
- Caspi et al. Circulation Cardiovascular Genetics 2013.See article details

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