MITOMAP: mtDNA Coding Region Sequence Polymorphisms

Last Edited: MM:EditDate:MM

Some reported polymorphisms have now been shown to be due to errors or rare polymorphisms in the original Cambridge sequence. See footnotes.

Nucleotide Position	Locus	Nucleotide Change	Amino Acid Change	References

Footnotes:

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.