MITOMAP: Reported Mitochondrial DNA Base Substitution Diseases: rRNA/tRNA mutations
Last Edited: MM:EditDate:MM
The GB frequency data in Mitomap is derived from MM:GenbankCnt:MM
GenBank sequences with size greater than 15.4kbp and MM:ControlCnt:MM
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 https://www.mitomap.org/MITOMAP/GBFreqInfo
For information about the predictive MitoTIP scoring for tRNA variants, see MitoTIP Info
|Leber Hereditary Optic Neuropathy
|Lethal Infantile Mitochondrial Myopathy
|Alzeimer's Disease and Parkinsons's Disease
|Maternal Myopathy and Cardiomyopathy
|Neurogenic muscle weakness, Ataxia, and Retinitis Pigmentosa; alternate phenotype at this locus is reported as Leigh Disease
|Fatal Infantile Cardiomyopathy Plus, a MELAS-associated cardiomyopathy
|Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-like episodes
|Leber's hereditary optic neuropathy and DYsTonia
|Myoclonic Epilepsy and Ragged Red Muscle Fibers
|Maternally inherited Hypertrophic CardioMyopathy
|Chronic Progressive External Ophthalmoplegia
|Kearns Sayre Syndrome
|Diabetes Mellitus + DeaFness
|Chronic Intestinal Pseudoobstruction with myopathy and Ophthalmoplegia
|Maternally inherited DEAFness or aminoglycoside-induced DEAFness
|SensoriNeural Hearing Loss
- Homoplasmy = pure mutant mtDNAs.
- Heteroplasmy = mixture of mutant and normal mtDNAs.
- nd = not determined.
- "Reported" status indicates that one or more publications have considered the mutation as possibly pathologic. This is not an assignment of pathogenicity by MITOMAP but is a report of literature. Previously, mutations with this status were termed "Prov" (provisional).
- "Cfrm"(confirmed) status indicates that at least two or more independent laboratories have published reports on the pathogenicity of a specific mutation. These mutations are generally accepted by the mitochondrial research community as being pathogenic. A status of "Cfrm" is not an assignment of pathogenicity by MITOMAP but is a report of published literature. Researchers and clinicians are cautioned that additional data and/or analysis may still be necessary to confirm the pathological significance of some of these mutations.
- "P.M." (point mutation/polymorphism) status indicates that some published reports have determined the mutation to be a non-pathogenic polymorphism.