Fig. 2: Selection of mtDNA somatic mutations in primary and relapsed multiple myeloma tumours.
From: Impact of mitochondrial DNA mutations in multiple myeloma
a Proportion of mutation type in mitochondrial germline and somatic mutations. Difference in mutation-type contribution was assessed by χ2 test. b Global dN/dS ratio for all 80 primary tumours, 25 matched primary tumours, and 25 relapsed tumours. *P < 0.05. Vertical lines depict 95% confidence intervals. c Heteroplasmic level comparison between silent (n = 26), missense (n = 102), and truncating mutations (n = 23) in 80 primary tumours. Whisker bars extend within ± 1.5× interquartile range. d Missense dN/dS ratio for MT-ND2, MT-ND4, and MT-ND5 suggest positive selection of missense mutations in these genes at relapse. Vertical lines depict 95% confidence intervals. *Q < 0.05, ***Q < 0.001. LOF loss-of-function (i.e. truncating mutations), VAF variant allele frequency, ns not significant.
