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. 2017 Jan 4;26(3):519–526. doi: 10.1093/hmg/ddw409

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© The Author 2017. Published by Oxford University Press.

This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted reuse, distribution, and reproduction in any medium, provided the original work is properly cited.

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Figure 1. — Domain arrangement of DYRK1A with location of diagnostic mutations. The kinase domain is enlarged and the catalytic loop and activation loop are labelled. NLS, nuclear localization signal; DH, DYRK homology box; PEST, proline, glutamic acid, serine, and threonine rich domain; STS, speckle-targeting signal; H, histidine repeat; S/T, serine/threonine repeat. Missense mutations are shown beneath the domain diagram, with position and amino acids; protein truncating variants are show above the diagram (* = stop-gained; lightning-bolt = frameshift; star = splice site; arrow = inversion). Arg437 to a stop codon occurred twice in the dataset.