Fig. 1
From: Missense variant in TTBK2 kinase domain causes loss of function and impaired protein phosphorylation
TTBK2 variants associated with cerebellar ataxia. (a) Schematic representation of the TTBK2 protein showing the localization of the missense variant of this study in red (L209F), and truncating and missense variants identified in other studies depicted in black. Sequence alignment of the flanking residues of Leu 209 of human TTBK2 kinase domain against other species is also shown (using Clustal Omega program). (b) Protein models of TTBK2 showing altered residue interactions upon amino acid change leucine to phenylalanine in position 209. On the left, the entire kinase domain is shown; on the right, a close-up view highlights the Leu209/Phe209 residues at the center, displaying their interactions with nearby residues in different colors. The models were performed in DynaMut2 (http://biosig.unimelb.edu.au/dynamut2/; PDB: 6VRF). A table displaying the protein stability prediction scores is also shown.
