MITOMAP A human mitochondrial genome database A compendium of polymorphisms and mutations in human mitochondrial DNA MITOMAP reports published data on human mitochondrial DNA variation. If you would like to add a paper and its data into MITOMAP, please email a pdf to mitomap@email.chop.edu. We appreciate your help.

2022 Update #2: On July 1, 2022 we added 2,316 new full-length (FL) and 3,077 new control region (CR) GenBank sequences to our database. This brings our total number of FL sequences to 56,910 and the number of CR sequences to 78,504. Our SNVs now total 19,449. We update our GenBank sequences every 4-6 months. Hand curation of variants and references continues weekly. See the GenBank Frequency Info page for details about our current sequence sets.

2022 Special Update [January 26, 2022] : We are pleased to announce that we have added Mitoscape to the Mitomap web site. Mitoscape is a big-data, machine-learning workflow for obtaining mtDNA sequence from NGS data, published by Singh et al November 2021, doi: 10.1371/journal.pcbi.1009594. The link to Mitoscape is in the left menu.

2021 Special Update [March 23, 2021] : We are pleased to announce that we have updated Allele Search to give you direct access to more variant data. New features include allele frequencies from gnomAD v3.1 and the Helix database, pathogenicity consensus scores for coding variants from MitImpact ’s APOGEE tool, and conservation percentages.

Update History

We have starred our user Favorites for seeking information on specific variants and for understanding the contents of our database.

MITOMAP Quick Reference & Tools

Allele Search - get point mutation data based on position

MITOMASTER - analyze any human mito SNV or nucleotide sequence

Tool Launchpad

The rCRS is GenBank number NC_012920.1. Click here for details.

General References		Illustrations:
The Annotated Human Mitochondrial DNA Sequence		View Figures
The rCRS & other mtDNAs..... GenBank Frequency Info		-Mitochondrial DNA Map
Amino Acid Translation Tables ...... MitoTIP tRNA Scoring		-Eleven pathological mutations in tRNA
Mitochondrial References, ALL ... • A-L only ... • M-Z only		-Mitochondrial energetics
Haplogroup Markers...... Most Common Variants		-Diabetes metabolism & the mitochondria
High Frequency Haplogroups....Mitobank		-World migrations
mtDNA Polypeptide Assignments		-mtDNA Trees
mtDNA Function Locations (Gene Loci)		Simple mtDNA Tree: Europe, Asia, Africa
Archived Reports:
... Mitochondrial Human Genome Report
... Common Continent-Specific mtDNA Variants, c.1995
... mtDNA RFLPs:... High Resolution... Low Resolution
General Variants (includes mini insertions & deletions)		Other databases & tools:
Control Region Variants (16024-576)		PhyloTree ... HaploGrep ... MSeqDR ... AmtDB
Coding & RNA Variants (577-16023, MTTF-MTTP)		HmtDB...PON tRNA... MitImpact... HmtVar
Somatic Mutations		MitoTool ... HvrBase++ ... GiiB-JST mtSNP ... mtDNA-Server
Collection of Submitted Variant Reports		EMPOP CR... Mitosearch... MitoMiner ... MitoWheel ...
Other Useful Mito Links on the Web		POLG Pathogenicity Server ...POLG @NIEHS ... MitoBreak... MitoAge
		Mamit-tRNA/mitotRNAdb... MitoFit... Aminoacyl tRNA Synthetases
Disease Mutations (reports of possible disease-associations)
Organized by mtDNA location:
rRNA/tRNA Mutations, all         View RNA Mutations with Cfrm Status
Coding & Non-Coding/Control Region Mutations, all         View Coding/Noncoding Mutations with Cfrm Status
View ALL Disease Mutations with Cfrm Status
Organized by phenotype:
rRNA/tRNA Mutations
Coding & Control Region Mutations
LHON Mutations
Major Rearrangements
MtDNA Deletions
Multiple mtDNA Deletions Within Individuals
MtDNA Inversions
MtDNA Simple Insertions
MtDNA Complex Rearrangements
Nuclear Genes Involved in Mitochondrial Disease
Structural Nuclear Genes in Mitochondrial Disease
Non-Structural Nuclear Genes in Mitochondrial Disease
Mitochondrial Pseudogenes
How to Cite MITOMAP & Submit Publications
How to cite MITOMAP & Terms of Use
Submitting articles: If you would like to submit published articles to be included in mitomap, please send the citation & a pdf to mitomap@email.chop.edu. (please put the word "Mitomap" in the subject line)
Support and Advocacy
United Mitochondrial Disease Foundation		Miracles for Mito
About Mitochondrial Disease - Mitoaction's FAQ		Audio Podcasts on iTunes- Mitoaction
LHON.org		Mitochondrial Research Guild
Mito Hope and Help		MitoCanada
Mitochondrial Care Network		North American Mitochondrial Disease Consortium (NAMDC)
Mito-EpiGen Program
Other
The Human Family Tree:10 Adams and 18 Eves		Mitochondria Interest Group Video Casts

Map of the Human Mitochondrial DNA

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~ Celebrating 24 years! ~
Mitomap has been continuously updated since 1996.