This database includes mutations and variants even when they are repeated. However, they must be present in unrelated families. The aim is to provide information to physicians as to whether or not a mutation found in a patient has been seen before in other affected individuals.
The database is also used by researchers. Mutations and variants listed come from the literature, from direct submission by laboratories, and from direct submission by affected families. Pathogenicity of many of the mutations is confirmed by:
- monolysocardiolipin/cardiolipin assay;
- mRNA study has characterized some of the splicing variants;
- large evolutionary alignments provide information about amino acid conservation;
- family information regarding de novo mutations is included;
- the functional effects of human TAZ mutations modeled in yeast are included.
There are links to the PubMed abstracts of references.