Fig. 2
From: Functional analysis of a novel nonsense PPP1R12A variant in a Chinese family with infantile epilepsy
Genetic variation information of the patient and her parents. (A) Sanger sequencing revealed a novel variant in the PPP1R12A gene, NM_002480.3:c.2533 C > T, resulting in p.Arg845Ter, in the patient. Both parents had the wild-type gene, suggesting a de-novo mutation. (B) The PPP1R12A protein consists of structural domains including a (R/K)(V/I)X(F/W) motif (RVxF), adjacent ankyrin repeats, interaction with ROCK2 domain (including Thr696 and Thr853 phosphorylation sites, indicated by blue balls), and a leucine zipper motif. The variant identified in this study is located within the interaction with ROCK2 domain (highlighted by a red arrow)