Figure 1.

Exon and Domain Structure, Conservation, and Locations of Observed Variation in BRSK2

(A and B) Variation observed in BRSK2 is shown for (A) the canonical, 20-exon transcript, GenBank: NM_001256627.1 and (B) the 736 aa protein, GenBank: NP_001243556.1. Protein domains include protein kinase, ubiquitin-associated (UBA), proline-rich (Pro-Rich), and kinase-associated 1 (KA1) domains. Splice variants are shown below the schematic representation of the canonical transcript, and protein-altering variants are shown above the schematic representation of BRSK2. De novo variants are shown in green text, and those of unknown inheritance are shown in black.

(C) Analysis of conservation throughout BRSK2 was performed with amino acid selection scores as previously published¹² and used a 21-codon sliding window. The most-selected motifs of a protein are identified as peaks. The three residues found to be affected by variation here are labeled, along with their respective conservation scores.