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7407 - 12396
Homo sapiens - Deletions

Deletion length: 4988 bp

Does not remove any origin of replication
Inside the major arc



Breakpoint flanking sequences
more information in Documentation - Flanking regions


7407
5fl vs 3del
Homology length: 3 bp

Deleted region


12396
ATATGGATGCCCCCCACCCT 5'Breakpoint ACCACACATTCGAAGAACCC (...) TCCCTAATTCCCCCCATCCT 3'Breakpoint TACCACCCTCGTTAACCCTA
5fl vs 3fl
Homology length: 1 bp

ATATGGATGCCCCCCACCCT 5'Breakpoint ACCACACATTCGAAGAACCC (...) TCCCTAATTCCCCCCATCCT 3'Breakpoint TACCACCCTCGTTAACCCTA




Two-dimensional scatterplot showing the location of the selected deletion (red diamond) versus the full dataset (grey dots). Each point represents an mtDNA rearrangement with the 5’ breakpoint on the x-axis and the 3’ breakpoint on the y-axis.

Circular mtDNA plot specifying the location of the deleted region (black bar).
Length distribution of the deleted region in the selected deletion (red bar) versus the full dataset (grey bars) .The cases were grouped 100-nt windows.
Present in:
Multiple deletion patient (POLG1mut)
Aged tissues
PEO, Parkinson

References

 [9] Bua, E., et al., Mitochondrial DNA-deletion mutations accumulate intracellularly to detrimental levels in aged human skeletal muscle fibers. American Journal of Human Genetics. 2006. 79(3): p. 469-80.

 [33] Reeve, A.K., et al., Nature of mitochondrial DNA deletions in substantia nigra neurons. American Journal of Human Genetics. 2008. 82(1): p. 228-35.