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. 2021 Apr 8;23(8):1484–1491. doi: 10.1038/s41436-021-01161-6

Fig. 1. Distribution of postzygotic missense MTOR variations.

Fig. 1

(a) Structure of mTOR protein including the Huntingtin, Elongation factor 3, protein phosphatase 2A, and TOR1 (HEAT) repeat; FAT (FRAP, ATM, and TRRAP) domain; FRB (FKBP12-rapamycin binding) domain; kinase (serine-threonine kinase kinase) domain; FATC (FAT, FRAP, ATM and TRRAP carboxy-terminal) domain; and FIT (Found in TOR) domain. Variant allele fractions (VAFs) (%) are shown as pie charts with a maximum allele fraction of 50%. B (red) blood, DS dark skin, LS light skin. Variation details are summarized in Supplementary Table 3. (b) Distribution of VAFs in hypopigmented skin (LS, black dots) and blood (red dots), with median values.