Fig. 4.

Pathogenic mutations of the INF2 DID-encoding exons. The exons encoding different segments of the human INF2 DID are indicated. The INF2 mutations associated with isolated FSGS (blue), FSGS in some patients or FSGS + CMT in others (purple), FSGS + CMT (red), and other diseases (green) are listed. *The E58K mutation has been found only in association with the L42P mutation that causes FSGS and, therefore, may not be pathogenic. The exons are drawn to scale