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. Author manuscript; available in PMC: 2021 May 1.
Published in final edited form as: Am J Med Genet A. 2020 Feb 21;182(5):1053–1065. doi: 10.1002/ajmg.a.61518

Figure 5. KMT2D missense variants, evolutionary conservation, protein domains, and population variation.

Figure 5.

A: Location of patients’ KMT2D missense variants on a highly conserved multi-species alignment of KMT2D protein sequence. ECRs: evolutionarily constrained regions as identified by Aminode (Chang et al., 2018). CC: coiled-coil domain, which extends from residues 3562-3614. B: Schematic of domains of KMT2D protein from InterPro (Mitchell et al., 2019). ZF: zinc-finger. HMG: high mobility group. CC: coiled-coil. FYR: FY-rich. SET: SET methyltransferase domain. C: In green are shown two regions of missense constraint from human population data (Samocha et al., 2017).