Reports published and unpublished data on human mitochondrial DNA variation.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.
Center for Mitochondrial and Epigenomic Medicine, Children's Hospital of Philadelphia Research Institute, Philadelphia, PA, USA; Center for Biomedical Informatics, The Children's Hospital of Philadelphia Research Institute, Philadelphia, PA, USA; National Center for Neurodegenerative and Mitochondrial Diseases CHU Angers, Biochemistry, and Genetics Department, Angers, France; Department of Pathology and Laboratory Medicine; University of Pennsylvania, Philadelphia, PA, USA
MITOMAP funding source(s)
This work was supported by NIH Grants NS21325, NS070298, AG24373 and DK73691 plus Simons Foundation Grant 205844.