WebHome lt; MITOMAP lt; Foswiki 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
SearchAllele lt; MITOMAP lt; Foswiki Mitomap Home Allele Search ‐ Search MITOMAP Database for Variants at Given Positions (database updated on 2026-04-18) Enter base positions, ranges, or variants (non-digits ignored) in any combination (e g 3565 358, 990C 9010- 9015 m 11778G>A) Position values must be integers in 1-16569 range (maximum 101 positions total)
HumanMitoSeq lt; MITOMAP lt; Foswiki The rCRS sequence is a fully corrected version of the original Cambridge Reference Sequence The rCRS is GenBank sequence NC_012920 gi:251831106 Get the more information about the rCRS and download the rCRS plus other complete mtDNA reference sequences at GenBank here IMPORTANT: Do not use RefSeq NC_001807 as "the rCRS" as it is an African (Yoruban) sequence with over 40 variant nucleotides
GBFreqInfo lt; MITOMAP lt; Foswiki A set of short control region sequences (82,288 sequences as of Jan 15, 2026) has also been collected from GenBank and is included in the variant frequency counts in Mitomap and Mitomaster where indicated
MutationsCodingControlCfrm lt; MITOMAP lt; Foswiki MITOMAP: Mitochondrial DNA Base Substitution Diseases: Coding and Control Region Point Mutations with Cfrm Status Last Edited: Mar 20, 2026 For Mitomap to assign a status of "Cfrm" to a possibly pathogenic variant, we look for confirming reports which address the criteria outlined in Mitchell et al 2006, Yarham et al 2011, Wong 2007, and Gonzalez-Viogue et al 2014 These criteria include the
Mitobank lt; MITOMAP lt; Foswiki MITOBANK Mitochondrial DNA Sequences To submit unpublished mtDNA variant data to an online database, please contact lishen@chla usc edu at MSeqDR To submit sequences to GenBank, use the BankIt tool (We pull sequences from GenBank 2-3 times a year to add to Mitomap's database ) To submit published articles to Mitomap, please send a PDF to mitomap@chop edu
TopVariants lt; MITOMAP lt; Foswiki Most Frequent Variants in Mitomap ("Top 42") There are twelve variants with ≥50% overall frequency that are widespread across all lineages These are shown in bold TABLE 1 Variants present at ≥80% in lineages L, M, or N are in yellow Variants present at ≥50% are in light blue
GenomeLoci lt; MITOMAP lt; Foswiki Note: Locus names are the official designations delineated by the given nucleotide numbers The map positions correspond to the nucleotide pair (np) numbers determined from the DNA sequence Notes: mtTF1=mitochondrial transcription factor, MDP=mitochondrial-derived microprotein, Y=either pyrimidine, N=any base H-strand replication origin positions have been identified at np 110, 147, 169, 191
HaplogroupMarkers lt; MITOMAP lt; Foswiki All markers shown, except those in parentheses, are present at ≥80% in the top level haplogroups of the current Mitomap dataset Parentheses indicate variants which are ≥50% but <80%