MITOMAP: mtDNA Coding Region & RNA Sequence Variants

Last Edited: Dec 13, 2024

The GB frequency data is derived from 61124 GenBank sequences with size greater than 15.4kbp and 80432 Control Region sequences with size 0.4-1.6kbp. These sequences have been pre-loaded into Mitomaster and represent almost all haplogroups known to date. We will be updating and refining this set of sequences on a regular basis. As a caveat, please note that GenBank sequences may not be of equal quality (Yao, et al, 2009), that some of these sequences are from individuals with past, current or future disease, and that this portion of our data set has not been hand-curated by Mitomap.

For more details about the current GenBank sequence set, please see http://www.mitomap.org/MITOMAP/GBFreqInfo

Footnotes:

The GB frequency data is derived from 61124 GenBank sequences with size greater than 15.4kbp and 80432 Control Region sequences with size 0.4-1.6kbp. These sequences have been pre-loaded into Mitomaster and represent almost all haplogroups known to date. We will be updating and refining this set of sequences on a regular basis. As a caveat, please note that GenBank sequences may not be of equal quality (Yao, et al, 2009), that some of these sequences are from individuals with past, current or future disease, and that this portion of our data set has not been hand-curated by Mitomap.

For more details about the current GenBank sequence set, please see http://www.mitomap.org/MITOMAP/GBFreqInfo Polymorphic sequence variants identified from mtDNA sequence analysis. Nucleotide changes are indicated as L-strand substitutions. "MT-NC" indicates non-coding locus; "syn" = synonymous mutation.

For the corrections made in 1999 by Andrews et al to the original Cambridge sequence, please see this summary table. Due to rare polymorphisms in the reference sequence, some “variants” are present at more than 80% frequency in one or more of the three major mtDNA lineages. To see a listing of these common variants, please see Mitomap’s tabulation of the most prevalent mtDNA variants along with its companion table of top level phylogenetic branch markers.

Some variants listed in this table might also be found in the disease-associated mtDNA variants table if subsequent publications have reported a possible association with pathogenicity. However, no variants with a ‘Cfrm’ pathogenicity status are included in this table of general variants.