LOVD SDHAF2 homepage

General information
Gene name Succinate dehydrogenase complex assembly factor 2
Gene symbol SDHAF2
Chromosome Location 11q12.2
Database location http://chromium.liacs.nl/LOVD2/SDH/home.php
Curator Dr. J.P.L. Bayley
Database reference for citations Bayley
PubMed references View all (unique) PubMed references in the SDHAF2 database
Date of creation September 10, 2010
Last update March 27, 2012
Version SDHAF2 120327
Add sequence variant Submit a sequence variant
First time submitters Register here
Genomic refseq ID NG_023393.1
Transcript refseq ID NM_017841.2
Total number of unique DNA variants reported 4
Total number of individuals with variant(s) 4
Total number of variants reported 4
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NOTE CITATION: If you benefit from the use of this database and publish findings, please cite; (Bayley JP, Devilee P, Taschner PE. BMC Med Genet. 2005 Nov 16;6:39.)

SIFT (Sorting Intolerant From Tolerant) analysis of missense variants. SIFT assumes that important amino acids will be conserved, using sequence homology to predict whether an amino acid substitution will affect protein function and potentially alter the phenotype (Ng & Henikoff. Nucleic Acids Res.(2003)31(13):3812-4

The variants included in the database were derived from the published literature or submitted directly and, where necessary, annotated to conform to current HGVS mutation nomenclature. When you notice any omissions or mistakes, please let us know (thank you).

Graphical displays and utilities
Summary tables Summary of all sequence variants in the SDHAF2 database, sorted by type of variant (with graphical displays and statistics)
UCSC Genome Browser Show variants in the UCSC Genome Browser (compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Sequence variant tables
Unique sequence variants Listing of all unique sequence variants in the SDHAF2 database, without patient data
Complete sequence variant listing Listing of all sequence variants in the SDHAF2 database
Variants with no known pathogenicity Listing of all SDHAF2 variants reported to have no noticeable phenotypic effect (note: excluding variants of unknown effect)
Download table Download the full sequence variant table of the SDHAF2 database in tab-delimited text format.

Search the database
By type of variant View all sequence variants of a certain type
Simple search Query the database by selecting the most important variables (exon number, type of variant, disease phenotype)
Advanced search Query the database by selecting a combination of variables
Based on patient origin View all variants based on your patient origin search terms

Links to other resources
HGNC 26034
Entrez Gene 54949
OMIM - Gene 613019
OMIM - Disease PARAGANGLIOMAS 2
UniProtKB (SwissProt/TrEMBL) Q9NX18
GeneCards SDHAF2
External link #1 Orphanet
External link #2 http://www.lovd.nl/lovd_SDH_visitors.html
External link #3 Other activities

Copyright & disclaimer
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 © 2014. 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.

We have used all reasonable efforts to ensure that the information displayed on these pages and contained in the databases is of high quality. We make no warranty, express or implied, as to its accuracy or that the information is fit for a particular purpose, and will not be held responsible for any consequences arising out of any inaccuracies or omissions. Individuals, organisations and companies which use this database do so on the understanding that no liability whatsoever either direct or indirect shall rest upon the curator(s) or any of their employees or agents for the effects of any product, process or method that may be produced or adopted by any part, notwithstanding that the formulation of such product, process or method may be based upon information here provided.