Extended Data Fig. 8: mtDNA local constraint (MLC) scores and population allele frequencies across the non-coding control region.
From: Quantifying constraint in the human mitochondrial genome
(a) The MLC score of positions across the control region, calculated using gnomAD maximum heteroplasmy data, are shown; a schematic of annotated non-coding elements is displayed above. The five peaks from left to right overlap (1) a recently discovered second light strand promoter, (2-3) regions of unknown function within the D-loop, (4) conserved sequence block 3, or (5) the light strand promoter. Base scores are provided in Supplementary Dataset 6. (b-c) The homoplasmic allele frequency (AF) of variants across the control region in gnomAD (b) or HelixMTdb (c). (d) The population allele frequency of variants across the control region in the MITOMAP database (which does not include heteroplasmy data). (b-d) are displayed with a square root transformed y-axis; note only SNVs are included.
