Human Mitochondrial Genome Polymorphism Database

current hits : 185880







1. Overview
  • The GiiB-JST mtSNP (mitochondrial single nucleotide polymorphism) database provides information related to the functional differences among mitochondrial SNPs. This web site is useful for identification of mtSNPs associated with age-related conditions such as longevity, Parkinson's disease, and Alzheimer's disease, as well as those related to energy metabolism such as obesity, thinness, and type-2 diabetes, or to atherosclerosis. The main part of this mtSNP database includes the entire mitochondrial genome sequences of individuals belonging to 7 different groups, with 96 individuals in each group, namely, centenarians, patients with Parkinson's disease, patients with Alzheimer's disease, young obese males, young non-obese males, and type-2 diabetes patients with or without severe vascular involvement. 
  • The purpose of this mtSNP web site is to provide various means to evaluate the functional differences between individuals carrying different sets of mtSNPs. For this purpose, we have taken 5 different approaches:  
    1.  Molecular simulation of structural alterations caused by nsSNPs (nonsynonymous single nucleotide polymorphisms) for cytochrome c oxidase (complex IV) and ubiquinol-cytochrome c oxidoreductase (cytochrome bc1 complex or complex III).
    2. Visualization of nsSNPs with respect to the folding patterns in the mitochondrial inner membrane of mitochondrially encoded subunits of the respiratory chain enzyme complexes (complexes I-V).
    3. Visualization of SNPs on the secondary structures of 2 ribosomal RNA's (12S and 16S rRNA) and 22 transfer RNA molecules.
    4. Comparison of amino acid replacements caused by nsSNPs with mammalian mitochondrial protein sequences for evaluation of functional effects.
    5. Dynamic systems for searching individuals carrying specific SNPs and for comparing frequencies of SNPs among disease and control groups.
2. Citing JSNP database
When referring to the mtSNP database in scientific communications, please use the following reference:
   mtSNP: a database of human mitochondrial genome polymorphisms. Ann NY Acad Sci 1011: 7-20 (2004)
   Mitochondrial genome variation in Eastern Asia and the peopling of Japan. Genome Res 14: 1832-1850 (2005)
3. Disclaimer and Liability
Gifu International Institute of Biotechnology and the Japan Science and Technology Agency make no representations or warranties regarding the content or accuracy of the information and also make no representations or warranties of the marketability or fitness for a particular purpose and accept no responsibility for any consequences of the receipt or use of the information. 
4. Copyright Status
Database and documents available from this website are protected under Japanese and foreign copyright laws. Permission to reproduce this database or documents is required.
5. Contact
If you have any questions or comments relating this website, please contact mtsnp@giib.or.jp