MITOMAP: mtDNA Coding Region & RNA Sequence Variants

Last Edited: Aug 27, 2013

The new GB frequency data is derived from 18363 GenBank sequences with size greater than 14kbp. 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.

The table


Footnotes:

The new GB frequency data is derived from 18363 GenBank sequences with size greater than 14kbp. 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. 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.

Polymorphisms listed above as "Revised CRS" are corrections of the original Cambridge sequence: 3423, 4985, 9559, 11335, 13702, 14199, 14272, 14365, 14368, and 14766. Only the corrected nucleotide is shown ("T-T", "C-C", or "A-A"). The errors in the original Cambridge sequence have been attributed to sequencing errors and to the inclusion of small fragments of bovine or HeLa DNA. See summary table.

Some polymorphisms listed as "rCRS rare pm" are confirmed rare polymorphisms in the original Cambridge sequence: 263, 750, 1438, 4769, 8860, and 15326. See summary table.

Some polymorphisms listed in this table are also listed in the disease-associated mtDNA mutations table if published reports have attributed possible pathogenicity.
Topic revision: r1 - 10 May 2016, UnknownUser
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