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6341 - 14005
Homo sapiens - Deletions

Deletion length: 7663 bp

Does not remove any origin of replication
Inside the major arc

Breakpoint flanking sequences
more information in Documentation - Flanking regions
6341 Deleted region 14005

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; ad-PEO; Patients with pathogenic POLG mutations
Ptosis; Proximal limb weakness; Encephalopathy; Tubulopathy; Hippocampal tissue of patients with mesial temporal lobe epilepsy (mTLE) and hippocampal sclerosis (HS)


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 [265] Rocher, C., et al., Base composition at mtDNA boundaries suggests a DNA triple helix model for human mitochondrial DNA large-scale rearrangements. Molecular Genetics and Metabolism. 2002. 76(2): p. 123-32.

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 [326] Hjelm, B.E., et al., . in preparation

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 [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.