Fig. 1

Functional domains of the human ACTN4 protein. The actin-binding domain (ABD) consists of CH1 (amino acid 47–154) and CH2 domain (amino acid 165–268). Mutations within ACTN4 including W59R and I149del in the CH1 domain and K255E, T259I, S262P and S262F in the CH2 domain have been associated with human FSGS.