Normal variants of human mitochondrial DNA and translation products: the building of a reference data base

Hum Genet. 1991 Dec;88(2):139-45. doi: 10.1007/BF00206061.


A good standard reference for the highly polymorphic human mitochondrial DNA (mtDNA) sequence is essential for studies of normal and disease-related nucleotide variants in the mitochondrial genome. A consensus sequence for the human mitochondrial genome has been derived from thirteen unrelated mtDNA sequences. We report 128 nucleotide variants of the human mtDNA sequence, and 62 amino acid variants of the human mitochondrial translation products, observed in the coding region of these mtDNA sequences.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amino Acid Sequence
  • Base Sequence
  • Consensus Sequence / genetics
  • DNA, Mitochondrial / genetics*
  • Databases, Factual*
  • Gene Frequency
  • Genetic Variation / genetics*
  • Humans
  • Mitochondria / enzymology
  • Molecular Sequence Data
  • Mutation / genetics


  • DNA, Mitochondrial