MITOMAP: Reported Mitochondrial DNA Base Substitution Diseases: rRNA/tRNA mutations
Last Edited: MM:EditDate:MM
The new GB frequency data is derived from MM:GenbankCnt:MM GenBank sequences with size greater than 15.4kbp. 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
||Leber Hereditary Optic Neuropathy
||Lethal Infantile Mitochondrial Myopathy
||Alzeimer's Disease and Parkinsons's Disease
||MMC ||Maternal Myopathy and Cardiomyopathy
||Neurogenic muscle weakness, Ataxia, and Retinitis Pigmentosa; alternate phenotype at this locus is reported as Leigh Disease ||FICP
||Fatal Infantile Cardiomyopathy Plus, a MELAS-associated cardiomyopathy
||Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-like episodes
||LDYT ||Leber's hereditary optic neuropathy and DYsTonia
||Myoclonic Epilepsy and Ragged Red Muscle Fibers
||MHCM ||Maternally inherited Hypertrophic CardioMyopathy
||Chronic Progressive External Ophthalmoplegia
||KSS ||Kearns Sayre Syndrome
||Diabetes Mellitus + DeaFness
||Chronic Intestinal Pseudoobstruction with myopathy and Ophthalmoplegia
||DEAF ||Maternally inherited DEAFness or aminoglycoside-induced DEAFness
||SNHL ||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.