Mitochondrial DNA variation databases | Genome annotation
Mutations in the human mitochondrial genome are known to cause an array of diverse disorders, most of which are maternally inherited, and all of which are associated with defects in oxidative energy metabolism. It is now emerging that somatic mutations in mitochondrial DNA (mtDNA) are also linked to other complex traits, including neurodegenerative diseases, ageing and cancer.
A collection of pre-computed pathogenicity predictions for all nucleotide changes that cause non-synonymous substitutions in human mitochondrial protein coding genes. MitImpact presents itself as a resource for fast and reliable evaluation of gene-specific susceptibility of unknown and verified amino acid changes.
Reports published and unpublished data on human mitochondrial DNA variation. MITOMASTER gives instructions showing how to submit sequences to identify nucleotide variants relative to the rCRS, to determine the haplogroup, and to view species conservation. User-supplied sequences, GenBank sequences and single nucleotide variants may be analyzed. MITOMAP consists of three main sections: i) background information about the human mitochondrial DNA; ii) an annotated listing of mtDNA variants, both general population and patient; and iii) the MITOMASTER analysis tool.
Provides data about human mitochondrial genome variants. HmtVar allows users to search for human mitochondrial DNA variability and pathogenicity information. It contains more than 39 000 variants from observed variations found in complete human mitochondrial genomes available on HmtDB. This database concerns both healthy and diseased subjects. It is useful in the field of genomic variation studies.
A free, web-accessible comprehensive list of breakpoints from three classes of somatic mtDNA rearrangements: circular deleted (deletions), circular partially duplicated (duplications) and linear mtDNAs. Currently, MitoBreak contains >1,400 mtDNA rearrangements from seven species (Homo sapiens, Mus musculus, Rattus norvegicus, Macaca mulatta, Drosophila melanogaster, Caenorhabditis elegans and Podospora anserina) and their associated phenotypic information collected from nearly 400 publications. The database allows researchers to perform multiple types of data analyses through user-friendly interfaces with full or partial datasets. It also permits the download of curated data and the submission of new mtDNA rearrangements. For each reported case, MitoBreak also documents the precise breakpoint positions, junction sequences, disease or associated symptoms and links to the related publications, providing a useful resource to study the causes and consequences of mtDNA structural alterations.
A web-based database of human whole genome and complete coding region sequences. mtDB is the only comprehensive online source for the data contained within it. This includes the sequences themselves as many have not been deposited in a publicly available database such as GenBank. The list of mitochondrial polymorphisms continually grows with the addition of new sequences and is an important resource for phylogenetic and medical studies. The ability to search for multiple-variant haplotypes adds further detail to the latent data.
Provides information about mitochondrial single nucleotide polymorphisms (SNPs). GiiB-JST mtSNP assists user in identification of mitochondrial single nucleotide polymorphisms (mtSNPs) associated with age-related conditions such as Alzheimer's disease, Parkinson's disease, or longevity. In overview, this online resource contains mitochondrial genome sequences related to individuals belonging to 7 different groups, where each group is composed of 96 individuals.
Allows users to add clinical phenotypes related to OPA1 variants. Mitodyn is a database specialized in genes involved in disorders affecting mitochondrial dynamics and bioenergetics. A query can be made by the database-ID, DNA change (cDNA), RNA protein, or reference. This database integrates data of the older eOPA1 website.