Mitomap's Confirmed Pathogenic Mutations

• Coding and Control Region Cfrm Mutations
• tRNA and rRNA Cfrm Mutations

The data are derived from 56910 GenBank sequences with size greater than 15.4kbp and 78504 Control Region sequences with size 0.4-1.6k bp. 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 https://www.mitomap.org/MITOMAP/GBFreqInfo