8428 - 15482 Homo sapiens - Deletions Deletion length: 7053 bp Does not remove any origin of replication Inside the major arc

Breakpoint flanking sequences more information in Documentation - Flanking regions

8428 5fl vs 3del Homology length: 9 bp Deleted region 15482 CCATACTCCTTACACTATTC ├ 5'Breakpoint ┤ CTCATCACCCAACTAAAAAT (...) TAATGACATTAACACTATTC ├ 3'Breakpoint ┤ TCACCAGACCTCCTAGGCGA 5fl vs 3fl Homology length: 2 bp CCATACTCCTTACACTATTC ├ 5'Breakpoint ┤ CTCATCACCCAACTAAAAAT (...) TAATGACATTAACACTATTC ├ 3'Breakpoint ┤ TCACCAGACCTCCTAGGCGA 5del vs 3del Homology length: 1 bp CCATACTCCTTACACTATTC ├ 5'Breakpoint ┤ CTCATCACCCAACTAAAAAT (...) TAATGACATTAACACTATTC ├ 3'Breakpoint ┤ TCACCAGACCTCCTAGGCGA

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:
Parkinson Disease
Hippocampal tissue of patients with mesial temporal lobe epilepsy (mTLE) and hippocampal sclerosis (HS)

References

 [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.

 [330] Volmering, E., et al., Neuropathological signs of inflammation correlate with mitochondrial DNA deletions in mesial temporal lobe epilepsy. Acta Neuropathologica. 2016. 132(2): p. 277-288.