Genetic & genomic
MITOMAP
Human mitochondrial DNA variation
"The community reference for mitochondrial DNA disease variants."
About the resource
MITOMAP — maintained at the Children's Hospital of Philadelphia and tracing back to Doug Wallace's lab in the 1980s — is the canonical compendium of human mitochondrial DNA variation. It catalogues confirmed and reported pathogenic mtDNA variants, polymorphisms, haplogroups and the disease associations behind mitochondrial syndromes (LHON, MELAS, MERRF, KSS, NARP, Leigh syndrome).
For clinical mitochondrial diagnostics, it is the reference of first resort — supplemented by the HmtDB and the MITOMAP mtDNA sequence database. CC BY 4.0.
What you'd use it for
- 01Look up a candidate mtDNA variant against the community reference
- 02Find the haplogroup-aware frequency of a mtDNA polymorphism
- 03Cross-reference a syndrome with the canonical causative mtDNA mutations
How you access it
Web UIMitoMaster variant browserBulk downloads