Fig. 4: BRSK2 exons, domains and reported variants. | npj Genomic Medicine

Fig. 4: BRSK2 exons, domains and reported variants.

From: Genomic analysis of 116 autism families strengthens known risk genes and highlights promising candidates

Fig. 4

Schematic representation of the BRSK2 gene structure (a) and protein domains (b), illustrating potentially damaging variants reported in this and previous studies. Protein domains include protein kinase domain (containing the active site, AS), ubiquitin-associated domain (UBA), proline-rich domain (Pro-Rich), and kinase-associated 1 (KA1) domain. Splice variants are shown above the schematic representation of the MANE transcript (upper panel), and protein-altering variants are shown below the schematic representation of BRSK2 (PTVs in red, missense variants in black). Confirmed de novo variants are highlighted in bold. The two variants identified in this study (p.(Ala158Thr), p.(Asp540GlufsTer9)) are underlined.

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