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| General information |
| Gene name |
Succinate dehydrogenase, subunit B |
| Gene symbol |
SDHB |
| Chromosome Location |
1p36.1-1p35 |
| Database location |
http://chromium.liacs.nl/LOVD2/SDH/home.php |
| Curator |
Dr. J.P.L. Bayley and Dr. Peter E.M. Taschner |
| Database reference for citations |
Bayley et al., 2005 |
| PubMed references |
View all (unique) PubMed references in the SDHB database |
| Date of creation |
January 05, 2005 |
| Last update |
November 05, 2012 |
| Version |
SDHB121105 |
| Add sequence variant |
Submit a sequence variant |
| First time submitters |
Register here |
| Reference sequence file |
Genomic reference sequence for describing sequence variants |
| Genomic refseq ID |
NG_012340.1 |
| Transcript refseq ID |
NM_003000.2 |
| Exon/intron information |
Exon/intron information table |
| Total number of unique DNA variants reported |
218 |
| Total number of individuals with variant(s) |
368 |
| Total number of variants reported |
371 |
| Subscribe to updates of this gene |
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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). |
| 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 |
| Copyright & disclaimer |
| Disclaimer: Inclusion of sequence variants in the TCAC mutation database does not imply that there is convincing evidence for pathogenicity. |
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