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12203 - 15355
Homo sapiens - Deletions

Deletion length: 3151 bp

Does not remove any origin of replication
Inside the major arc



Breakpoint flanking sequences
more information in Documentation - Flanking regions
12203 Deleted region 15355
AGGCTTACGACCCCTTATTT 5'Breakpoint ACCGAGAAAGCTCACAAGAA (...) CTCCTATTCTTGCACGAAAC 3'Breakpoint GGGATCAAACAACCCCCTAG




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:
PEO; KSS
Isolated mitochondrial myopathy

References

 [41] Moraes, C.T., et al., Molecular analysis of the muscle pathology associated with mitochondrial DNA deletions. Nature Genetics. 1992. 1(5): p. 359-67.

 [138] Moraes, C.T., et al., Phenotype-genotype correlations in skeletal muscle of patients with mtDNA deletions. Muscle & Nerve. 1995. 3: p. S150-3.