Figure 1.

Description of mutations identified in spinocerebellar ataxia type 14 (SCA14) cohort. (A) Description of all protein kinase Cγ gene (PRKCG) mutations identified in the study (ENST00000263431). (B) Schematic representation of the PRKCG gene with the mutations identified in our study. The exons are represented approximately to scale. The introns are represented by a blue line between exons. The PRKCG protein's regulatory functional domains are indicated: blue = cysteine‐rich region C1 (cys1 and cys2); orange = Ca²⁺ sensitive region (C2); purple = the catalytic domain containing kinase (C3) and substrate recognition (C4) regions. The novel mutations are indicated on the top and the known mutations on the bottom of the figure. [Color figure can be viewed at http://wileyonlinelibrary.com]