1. Schematic representations of DGKE protein and mRNA illustrating the relative positions of all pathogenic mutations reported to date.
Schematic representations of DGKE protein and mRNA illustrating the relative positions of all pathogenic mutations reported to date. Novel mutations are highlighted in red. The two mutations of patient 4.1 are underlined because they were recently reported in a report that did not include detailed clinical information, which is part of this report. The numbers next to many mutations indicate how many individual patients have this genotype (number of kindreds). Mutations without an associated number were observed in one patient. C1L, C1 domains (presumed to bind diacylglycerol); H, hydrophobic domain.
Karolis Azukaitis et al. JASN 2017;28:
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