Figure 2 | European Journal of Human Genetics

Figure 2

From: X-linked Coffin-Lowry syndrome (CLS, MIM 303600, RPS6KA3 gene, protein product known under various names: pp90rsk2, RSK2, ISPK, MAPKAP1)

Figure 2

Mutation spectrum of the RSK2 gene. The mutations so far detected are shown above and below a schematic representation of the RSK2 transcripts. NTK and CTK: N-terminal and C-terminal kinase domains respectively. ATP binding sites (ATP BS) and activation loops are coloured light grey and the ERK docking site is striped. Positions of four important regulatory phosphorylation sites (P) are indicated.

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