PON-mt-tRNA specifications

Information


Unique identifier OMICS_25175
Name PON-mt-tRNA
Interface Web user interface
Restrictions to use None
Input data A mtDNA location, a reference nucleotide, an altered nucleotide.
Output data A probability and classification.
Computer skills Basic
Stability Stable
Maintained Yes

Maintainer


  • person_outline Mauno Vihinen

Additional information


http://structure.bmc.lu.se/PON-mt-tRNA/about.html/

Publication for PON-mt-tRNA

PON-mt-tRNA citation

library_books

A novel MTTT mutation m.15933G > A revealed in analysis of mitochondrial DNA in patients with suspected mitochondrial disease

2017
BMC Med Genet
PMCID: 5303298
PMID: 28187756
DOI: 10.1186/s12881-017-0377-8

[…] at position m.8743 is not particularly conserved, whereas m.15933G is a highly conserved (Table , Fig. ). The m.15933G > A mutation was predicted to be pathogenic with a probability score of 0.92 by PON-mt-tRNA method. Sequencing revealed that the m.15933G > A variant was present in an amplicon obtained in a long-range PCR amplification covering the whole mtDNA of patient 41.Fig. 1 Fig. 2 Patien […]

PON-mt-tRNA institution(s)
Department of Experimental Medical Science, Lund University, Lund, Sweden

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