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Updated: Aug 16, 2026

Genotyping Single Nucleotide Polymorphisms in the Mitochondrial Genome by Pyrosequencing
Published on: February 10, 2023
MitoAnalyzer, a computer program and interactive web site to determine the effects of single nucleotide polymorphisms
Michael S Lee1, Barbara C Levin
1Biotechnology Division, 100 Bureau Drive, MS 8311, National Institute of Standards and Technology, Gaithersburg, MD 20899-8311, USA.
Abstract:
MitoAnalyzer provides information about the effects of single nucleotide polymorphisms (SNPs) and mutations in human mitochondrial DNA (mtDNA). This program determines if a single base pair (bp) change is in the non-coding or coding region, in the first, second or third bp of the codon, in a rRNA, tRNA or a protein, causes an amino acid (aa) change, the nature of that change, the position of the aa change in the protein, and the new aa sequence of the changed protein. Mutations associated with published mitochondrial diseases are noted. This program, thus, facilitates rapid analysis and evaluation of SNPs and mutations in human mtDNA.

