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. 2019 Sep 27;6(11):2197–2204. doi: 10.1002/acn3.50912

Figure 4.

Figure 4

Distribution of VRK1 variants in previously reported patients and currently described recessive variant. Schematic representation of the VRK1 transcript and VRK1 protein, including the catalytic domain of the ATP‐binding site, active site of Serine/Threonine protein kinase, activation loop, and nuclear localization signal. Previously reported homozygous (p.R133C, p.R358X, and p.W375X) and compound heterozygous (p.R89Q and p.V236M; p.H119R and p.R321C; p.H119R and p.R358X; and p.G135R and p.L195V) variants (black color) and the currently homozygous c.1159 + 1G>A (blue color) situated at the highly conserved 5’ splice junction of intron 12 are indicated. To date the genetic null variants are C‐terminal, the missense variants more N‐terminal.