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5798 - 16072
Homo sapiens - Deletions

Deletion length: 10273 bp

Does not remove any origin of replication
Inside the major arc



Breakpoint flanking sequences
more information in Documentation - Flanking regions
5798 Deleted region 16072
AGCTGCTTCTTCGAATTTGC 5'Breakpoint AATTCAATATGAAAATCACC (...) CCACCCAAGTATTGACTCAC 3'Breakpoint CCATCAACAACCGCTATGTA




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

References

 [291] Nishigaki, Y., R. Marti, and M. Hirano, ND5 is a hot-spot for multiple atypical mitochondrial DNA deletions in mitochondrial neurogastrointestinal encephalomyopathy. Human Molecular Genetics. 2004. 13(1): p. 91-101.

 [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.