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7991 - 16073
Homo sapiens - Deletions

Deletion length: 8081 bp

Does not remove any origin of replication
Inside the major arc



Breakpoint flanking sequences
more information in Documentation - Flanking regions


7991
5fl vs 3del
Homology length: 2 bp

Deleted region


16073
ACCAGGCGACCTGCGACTCC 5'Breakpoint TTGACGTTGACAATCGAGTA (...) CACCCAAGTATTGACTCACC 3'Breakpoint CATCAACAACCGCTATGTAT
5fl vs 3fl
Homology length: 1 bp

ACCAGGCGACCTGCGACTCC 5'Breakpoint TTGACGTTGACAATCGAGTA (...) CACCCAAGTATTGACTCACC 3'Breakpoint CATCAACAACCGCTATGTAT




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

References

 [167] Zeviani, M., et al., An Autosomal Dominant Disorder with Multiple Deletions of Mitochondrial-DNA Starting at the D-Loop Region. Nature. 1989. 339(6222): p. 309-311.

 [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.