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Fig. 4 | BMC Medical Genomics

Fig. 4

From: Functional analysis of a novel nonsense PPP1R12A variant in a Chinese family with infantile epilepsy

Fig. 4

Structural illustration of the interaction between PPP1R12A and PPP1CB. (A) The structure displays the lacking C-terminal portion of PPP1R12A (purple) that does not directly interact with PPP1CB but primarily binds to the N-terminal structure. (B) Partial loop structures of PPP1R12A interact with PPP1CB. In the wild-type structure, PPP1R12A residues (Gln756, Arg750, and Arg687) form hydrogen bonds with PPP1CB residues (Glu167, Glu56, and Glu116). In the mutant structure, these hydrogen bonds are disrupted and a new hydrogen bond is formed between PPP1R12A Thr748 and PPP1CB Glu56

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