Figure 1 | Scientific Reports

Figure 1

From: A novel de novo heterozygous DYRK1A mutation causes complete loss of DYRK1A function and developmental delay

Figure 1

A novel de novo heterozygous mutation in the kinase domain of the DYRK1A gene. (a) Sanger sequencing confirmed a heterozygous novel DYRK1A variant, c.1185dup (p.E396ter) (NM_001396.3), in exon 8 that was identified by exome sequencing of the patient’s genome. (b) Schematic diagram of the DYRK1A catalytic domain. The location of the mutation and the translational termination codon (E396ter) is indicated as a red arrow.

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