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10953 - 15837
Homo sapiens - Deletions

Deletion length: 4883 bp

Does not remove any origin of replication
Inside the major arc



Breakpoint flanking sequences
more information in Documentation - Flanking regions


10953
5fl vs 3fl
Homology length: 1 bp

Deleted region


15837
GACCCCCTAACAACCCCCCT 5'Breakpoint CCTAATACTAACTACCTGAC (...) ATACTTCACAACAATCCTAA 3'Breakpoint TCCTAATACCAACTATCTCC
5del vs 3del
Homology length: 5 bp

GACCCCCTAACAACCCCCCT 5'Breakpoint CCTAATACTAACTACCTGAC (...) ATACTTCACAACAATCCTAA 3'Breakpoint TCCTAATACCAACTATCTCC




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:
KSS
Mitochondrial myopathy; Multisystemic mitochondrial disorders

References

 [136] Larsson, N.G. and E. Holme, Multiple short direct repeats associated with single mtDNA deletions. Biochimica Et Biophysica Acta. 1992. 1139(4): p. 311-4.

 [137] Larsson, N.G., et al., Progressive increase of the mutated mitochondrial DNA fraction in Kearns-Sayre syndrome. Pediatric Research. 1990. 28(2): p. 131-6.