UNIT 1.23 mtDNA Variation and Analysis Using Mitomap and Mitomaster

  1. Marie T. Lott1,
  2. Jeremy N. Leipzig2,
  3. Olga Derbeneva1,
  4. H. Michael Xie2,
  5. Dimitra Chalkia1,
  6. Mahdi Sarmady2,
  7. Vincent Procaccio3,
  8. Douglas C. Wallace1,4

Published Online: 12 DEC 2013

DOI: 10.1002/0471250953.bi0123s44

Current Protocols in Bioinformatics

Current Protocols in Bioinformatics

How to Cite

Lott, M. T., Leipzig, J. N., Derbeneva, O., Xie, H. M., Chalkia, D., Sarmady, M., Procaccio, V. and Wallace, D. C. 2013. mtDNA Variation and Analysis Using Mitomap and Mitomaster. Current Protocols in Bioinformatics. 1:1.23:1.23.1–1.23.26.

Author Information

  1. 1

    Center for Mitochondrial and Epigenomic Medicine, Children's Hospital of Philadelphia Research Institute, Philadelphia, Pennsylvania

  2. 2

    Center for Biomedical Informatics, Children's Hospital of Philadelphia Research Institute, Philadelphia, Pennsylvania

  3. 3

    Biochemistry and Genetics Department, Angers Hospital; UMR CNRS 6214/INSERM U1083, Angers, France

  4. 4

    Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, Pennsylvania

Publication History

  1. Published Online: 12 DEC 2013


The Mitomap database of human mitochondrial DNA (mtDNA) information has been an important compilation of mtDNA variation for researchers, clinicians, and genetic counselors for the past 25 years. The Mitomap protocol shows how users may look up human mitochondrial gene loci, search for public mitochondrial sequences, and browse or search for reported general population nucleotide variants as well as those reported in clinical disease. Within Mitomap is the powerful sequence analysis tool for human mitochondrial DNA, Mitomaster. The Mitomaster protocol gives step-by-step instructions showing how to submit sequences to identify nucleotide variants relative to the rCRS, determine the haplogroup, and view species conservation. User-supplied sequences, GenBank identifiers, and single-nucleotide variants may be analyzed. Curr. Protoc. Bioinform. 44:1.23.1-1.23.26. © 2013 by John Wiley & Sons, Inc.


  • biological database;
  • information retrieval;
  • human mitochondrial DNA;
  • haplogroups;
  • species conservation;
  • GenBank sequences;
  • single nucleotide variants