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A human mitochondrial genome database

A compendium of polymorphisms and mutations in human mitochondrial DNA
MITOMAP reports published data on human mitochondrial DNA variation. Currently our variant tables report frequencies from 46092 full length human mitochondrial DNA sequences. If you would like to add a paper and its data into MITOMAP, please email a pdf to We appreciate your help. Thanks.
Science Cover

2019 Update #1: On January 1, 2019 we added 123 new variants from 1320 new full-length (FL) and 916 new control region (CR) GenBank sequences. This brings our total of non-disease variants to 13691, the number of FL sequences to 47412, and the number of CR sequences to 71091. Our next sequence set update will be in May. See the GenBank Frequency Info page for details about our current sequence sets.

MITOMAP Quick Reference

led-gray Click here to search for point mutations . The help button on the search page has more information.

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

led-gray Some tools

General References Illustrations:
The Annotated Human Mitochondrial DNA Sequence View Figures
The rCRS & other mtDNAs..... UPDATED 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
UPDATED Haplogroup Markers...... UPDATED Most Common Variants -Diabetes metabolism & the mitochondria
Complete Mitochondrial Genome Sequences .... UPDATED Mitobank -World migrations
Mitochondrial DNA Polypeptide Assignments -mtDNA Trees
Mitochondrial DNA 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
mtDNA Variants (includes mini insertions & deletions) Other databases & tools:
UPDATED Control Region Variants (16024-576) PhyloTree ... HaploGrep ... MSeqDR
UPDATED Coding & RNA Variants (577-16023, MTTF-MTTP) HmtDB...PON tRNA... MitImpact2... NEW HmtVar
Somatic Mutations MitoTool ... HvrBase++ ... GiiB-JST mtSNP
Collection of Submitted Variant Reports EMPOP CR... Mitosearch... MitoMiner ... MitoWheel ...
Other Useful Mito Links on the Web POLG Database ... MitoBreak... MitoAge
Mamit-tRNA... MitoFit... Aminoacyl tRNA Synthetases
mtDNA Mutations with Reports of Disease-Associations
Organized by mtDNA location:
UPDATED rRNA/tRNA Mutations, all     NEW View Cfrm status only
UPDATED Coding & Non-Coding/Control Region Mutations, all      NEW View Cfrm status only
Organized by phenotype:
rRNA/tRNA Mutations
Coding & Control Region Mutations
Major Rearrangements
MtDNA Deletions
Multiple mtDNA Deletions Within Individuals
MtDNA Inversions
MtDNA Simple Insertions
MtDNA Complex Rearrangements
Nuclear Genes Involved in Mitochondrial Disease
UPDATED Structural Nuclear Genes in Mitochondrial Disease
UPDATED 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 (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
Foundation for Mitochondrial Medicine Mitochondrial Research Guild
Mito Hope and Help MitoCanada
The Human Family Tree:10 Adams and 18 Eves Mitochondria Interest Group Video Casts
Mitochondrial DNA Map

Map of the Human Mitochondrial DNA

~ Celebrating 20+ years! ~
Mitomap has been continuously updated since 1996.

Topic revision: r76 - 19 Jan 2019, UnknownUser

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