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8032 - 16073
Homo sapiens - Deletions

Deletion length: 8040 bp

Does not remove any origin of replication
Inside the major arc



Breakpoint flanking sequences
more information in Documentation - Flanking regions


8032
5fl vs 3del
Homology length: 2 bp

Deleted region


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

TACTCCCGATTGAAGCCCCC 5'Breakpoint ATTCGTATAATAATTACATC (...) 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:
ad-PEO; Mitochondrial myopathy
Aged tissues
Inclusion body myositis

References

 [24] Moslemi, A.R., C. Lindberg, and A. Oldfors, Analysis of multiple mitochondrial DNA deletions in inclusion body myositis. Human Mutation. 1997. 10(5): p. 381-6.

 [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.

 [176] Moslemi, A.R., et al., Clonal expansion of mitochondrial DNA with multiple deletions in autosomal dominant progressive external ophthalmoplegia. Annals of Neurology. 1996. 40(5): p. 707-713.

 [283] Baumer, A., et al., Age-Related Human Mtdna Deletions - a Heterogeneous Set of Deletions Arising at a Single Pair of Directly Repeated Sequences. American Journal of Human Genetics. 1994. 54(4): p. 618-630.