LOVD FH homepage

General information
Gene name Fumarate Hydratase
Gene symbol FH
Chromosome Location 1q42.1
Database location http://chromium.liacs.nl/LOVD2/SDH/home.php
Curator Dr. J.P.L. Bayley
PubMed references View all (unique) PubMed references in the FH database
Date of creation September 17, 2007
Last update August 17, 2011
Version FH110817
Add sequence variant Submit a sequence variant
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Reference sequence file Genomic reference sequence for describing sequence variants
Genomic refseq ID NG_012338.1
Transcript refseq ID NM_000143.3
Exon/intron information Exon/intron information table
Total number of unique DNA variants reported 155
Total number of individuals with variant(s) 326
Total number of variants reported 337
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NOTE CITATION: If you benefit from the use of this database and publish findings, please cite; (Bayley JP, Launonen V, Tomlinson IP. BMC Med Genet. 2008 Mar 25;9:20.)

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 and, where necessary, annotated to conform to current HGVS mutation nomenclature. (Note: Some variants have not yet been definitively assigned to a standard location due to the use of differing/unclear nomenclature amongst authors.) The HGVS recommended cDNA numbering starts from the first ATG of the full coding sequence. Protein reference sequences should represent the primary translation product, not a processed mature protein, and thus include any signal peptide sequences. 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 FH database, sorted by type of variant (with graphical displays and statistics)
Reading-frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes
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 FH database, without patient data
Complete sequence variant listing Listing of all sequence variants in the FH database
Variants with no known pathogenicity Listing of all FH variants reported to have no noticeable phenotypic effect (note: excluding variants of unknown effect)
Download table Download the full sequence variant table of the FH 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 3700
Entrez Gene 2271
OMIM - Gene 136850
OMIM - Disease #1 FUMARASE DEFICIENCY
OMIM - Disease #2 LEIOMYOMATOSIS AND RENAL CELL CANCER HEREDITARY
OMIM - Disease #3 HEREDITARY MULTIPLE LEIOMYOMA OF SKIN
UniProtKB (SwissProt/TrEMBL) P07954
HGMD FH
GeneTests FH
External link #1 Orphanet
External link #2 Mutalyzer Ref Sequence NG_012338.1
External link #3 Visitor Statistics - SDH Database

Copyright & disclaimer
Disclaimer: Inclusion of sequence variants in the TCAC mutation database does not imply that there is convincing evidence for pathogenicity