Figure 4. NLRP7 Mutations and linkage to reproductive disease.

(left) Selected characterized genetic variations in exonic regions of the NLRP7 locus and the resulting amino acid changes in NLRP7 are listed by domain. Associated phenotypes for each individual mutation and mutations with higher frequency are indicated that occur in more than five unrelated families. (right) Histogram of mutations in the NLRP7 locus, which are organized by frequency within both coding- and non-coding regions and location to the individual NLRP7 domains. RHM: recurrent hydatidiform mole; CHM: complete hydatidiform mole; NRHM: non-recurrent hydatidiform mole; PTD: persistent trophoblastic disease.