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15497 - 15522 Homo sapiens - Deletions Deletion length: 24 bp Does not remove any origin of replication Inside the major arc |
Breakpoint flanking sequences more information in Documentation - Flanking regions |
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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. |
References
[272] Andreu, A.L., et al., Exercise intolerance due to a nonsense mutation in the mtDNA ND4 gene. Annals of Neurology. 1999. 45(6): p. 820-823.
[287] Andreu, A.L., et al., A missense mutation in the mitochondrial cytochrome b gene in a revisited case with histiocytoid cardiomyopathy. Pediatric Research. 2000. 48(3): p. 311-4.
[288] Tanaka, M., et al., Mitochondrial genome single nucleotide polymorphisms and their phenotypes in the Japanese. Annals of the New York Academy of Sciences. 2004. 1011: p. 7-20.