This page allows to search for specific variants contained in HmtVar.

Main information

Search Criteria Description Values
Locus Type Query the entire db or restrict to CDS, rRNA, tRNA or regulatory sequences.
Variation Search for a specific mutation, in the formats [ref][pos][mut] or [ref][pos] or [pos][mut].
Position Search for variants occurring in a specific position (3308) or in a list of positions (3308,3309,3310) or in a range of positions (3308-3310).
Locus Search for variants occurring in a specific mitochondrial locus.
Codon Search for all variants or for variants in a specific codon position.
Aminoacidic Change Search for synonymous, stop-gain or non-synonymous variants.
Only for Coding Sequences.




Disease Score Search variants with a defined disease score, or within a score range (0.1-0.3).
tRNA Model Search for variants belonging to a specific tRNA model.
Only for tRNA.
Pathogenicity Search for variants predicted with a certain pathogenicity prediction.

Variability

Search Criteria Description Values
Nt Variability Search for variants with a defined healthy nt variability, or within a variability range (0.1-0.3).
Search for variants with a defined patient nt variability, or within a variability range (0.1-0.3).
Aa Variability Search for variants with a defined healthy aa variability, or within a variability range (0.1-0.3).
Search for variants with a defined patient aa variability, or within a variability range (0.1-0.3).