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Fig. 2 | BMC Genomics

Fig. 2

From: Independent impacts of aging on mitochondrial DNA quantity and quality in humans

Fig. 2

Pathogenic potential for nonsynonymous heteroplasmies. a The box plot of CADD pathogenic score for disease associated mutations, nonsynonymous heteroplasmies and nonsynonymous homoplasmies (heteroplasmy and homoplasmy occurring in multiple individuals were counted only once). Heteroplasmies had significant higher pathogenic scores than homoplasmies (P = 3.967e-7) although still lower than disease associated mutations (P < 2.2e-16). b The cumulative distribution of CADD pathogenic scores of disease associated mutation, homoplasmy, low frequency heteroplasmy (MAF 2%–10%) and high frequency heteroplasmy (MAF > 10%). The distribution of low frequency heteroplasmy was close to disease associated mutations, indicating higher pathogenic potential

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