MITOMAP: Reported Mitochondrial DNA Base Substitution Diseases: rRNA/tRNA mutations
Last Edited: Oct 02, 2015
The GB frequency data is derived from 30589 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.
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.