Skip to main content
. 2020 Nov 30;28(5):1477–1492. doi: 10.1038/s41418-020-00672-0

Fig. 6. New TP53 SNPs are spread out in the human population.

Fig. 6

A For the 14 population datasets used in this study as well as for the eight population-specific subsets of gnomAD, the frequency of each TP53 SNP is shown as a colored dot: green: BA1 variants (AF ≥ 0.001 and AC ≥ 5); blue: BS1 variants (AF ≥ 0.0003 and AC ≥ 5); orange: variants with an AC ≥ 5 but falling short of the BA1 or BS1 allele frequency limit of 0.001 (green line) or 0.0003 (blue line); gray: variants with low AF and AC. A specific clustering in the Asian population can be distinguished for variants rs201753350 (p.V31I) and rs201382018 (p.E11Q) (red arrows). An extended analysis for all TP53 variants is shown in Fig. S11. B Distribution of novel benign TP53 variants analyzed in this study in the TP53 protein. Green: benign TP53 variants as defined previously. Orange: benign TP53 variants identified in this study. Variants specific to an ethnic group are shown below the TP53 protein. TAD I transactivation domain I, TAD II transactivation domain II, PRD proline-rich domain, DBD DNA-binding domain, TET oligomerization domain, Cter carboxy-terminal region. Only variants found in four or more different TP53 datasets are shown. TP53 exons 2–11 are shown in gray above the protein.