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7402 - 16072
Homo sapiens - Deletions

Deletion length: 8669 bp

Does not remove any origin of replication
Inside the major arc



Breakpoint flanking sequences
more information in Documentation - Flanking regions


7402
5fl vs 3del
Homology length: 1 bp

Deleted region


16072
TGACTATATGGATGCCCCCC 5'Breakpoint ACCCTACCACACATTCGAAG (...) CCACCCAAGTATTGACTCAC 3'Breakpoint CCATCAACAACCGCTATGTA
5fl vs 3fl
Homology length: 2 bp

TGACTATATGGATGCCCCCC 5'Breakpoint ACCCTACCACACATTCGAAG (...) CCACCCAAGTATTGACTCAC 3'Breakpoint CCATCAACAACCGCTATGTA
5del vs 3del
Homology length: 2 bp

TGACTATATGGATGCCCCCC 5'Breakpoint ACCCTACCACACATTCGAAG (...) 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:
ad/ar-PEO; ad/ar-PEO (TWINKLEdup); ad/ar-PEO (POLGmut)
Ataxia

References

 [15] Regan, C., Sequence characterization of breakpoint regions of human mitochondrial DNA deletions and possible mechanisms of formation. PhD Thesis. 1999.

 [286] Wanrooij, S., et al., Twinkle and POLG defects enhance age-dependent accumulation of mutations in the control region of mtDNA. Nucleic Acids Research. 2004. 32(10): p. 3053-64.