The amino acid position lies near the immunoglobulin-like fold, plexins, transcription factors/transcription factor immune globin (IPT/TIG) domains of fibrocystin that have an immunoglobulin-like fold where numerous missense variants putatively implicated in ARPKD phenotypes are found (Figure 2B). Here, PKHD1 is linked to autosomal recessive polycystic kidney disease.