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. Author manuscript; available in PMC: 2023 Jun 9.
Published in final edited form as: J Med Genet. 2021 Jul 28;59(7):697–705. doi: 10.1136/jmedgenet-2020-107470

Figure 1.

Figure 1

(A) Localisation of KMT2E variants reported in this study at the protein level. Exon regions are depicted with alternating grey shading, the first coding exon in NM_182931.2 is exon 3. Frameshifting variants are written in red, nonsense variants in blue and (putative) splice variants in green. The c.65del (p.(Gly22Valfs*7)) variant represents the earliest truncating variant in KMT2E published to date. PHD, PHD zinc finger domain; SET, SET domain; †, variants predicted to escape nonsense-mediated decay. (B) Genomic locations of the CNVs reported in individuals 17 and 18.