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9603 - 14141
Homo sapiens - Deletions

Deletion length: 4537 bp

Does not remove any origin of replication
Inside the major arc



Breakpoint flanking sequences
more information in Documentation - Flanking regions


9603
5fl vs 3del
Homology length: 8 bp

Deleted region


14141
CCTAGAAGTCCCACTCCTAA 5'Breakpoint ACACATCCGTATTACTCGCA (...) CATCCTAACCCTACTCCTAA 3'Breakpoint TCACATAACCTATTCCCCCG
5del vs 3del
Homology length: 1 bp

CCTAGAAGTCCCACTCCTAA 5'Breakpoint ACACATCCGTATTACTCGCA (...) CATCCTAACCCTACTCCTAA 3'Breakpoint TCACATAACCTATTCCCCCG




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
Aged tissues
Peripheral myopathy

References

 [6] Bodyak, N.D., et al., Quantification and sequencing of somatic deleted mtDNA in single cells: evidence for partially duplicated mtDNA in aged human tissues. Human Molecular Genetics. 2001. 10(1): p. 17-24.

 [7] Yuzaki, M., et al., Multiple deletions in mitochondrial DNA at direct repeats of non-D-loop regions in cases of familial mitochondrial myopathy. Biochemical and Biophysical Research Communications. 1989. 164(3): p. 1352-7.