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. Author manuscript; available in PMC: 2021 Dec 1.
Published in final edited form as: Hum Mutat. 2020 Nov 10;41(12):2028–2057. doi: 10.1002/humu.24107

Table 2:

Bioinformatics resources to support mtDNA variant assessment.

Sequences Variant pathogenicity Sequence analysis
Tool mtDNA sequence repository mtDNA sequence source mtDNA variant patdogenicity assessment mtDNA variant patdogenicity assessment source mtDNA sequence analysis mtDNA sequence analysis source
Mitomap https://www.mitomap.org/MITOMAP + GenBank + Manual curation MitoTIP + MITOMASTER
MSeqDR https://mseqdr.org/ + GenBank GeneDx HmtDB (sequences not in GenBank) User-entered sequences + MSeqDR-GBrowse MSeqDR-LSDB MitoMap (manual curation, MitoTip) + mvTool PhyMer HmtDB (MToolBox)
MtSNPScore http://ab-openlab.csir.res.in/snpscore/ − − + MtSNPScore − −
HmtDB https://www.hmtdb.uniba.it/ + International Nucleotide Sequence Database Collaboration (includes GenBank) + HmtVAR + MToolBox