Table 4

ZFPM2 sequence changes in patients with diaphragmatic eventrations

Observed changeNumber of patientsExon1000 genomes*/dbSNP (heterozygosity)Predicted effect (PolyPhen)
Non-synonymous changes
 A403G18Yes/yes (0.341)Benign/non-deleterious
 E782D28Yes/yes (0.078)Benign/non-deleterious
Synonymous changes
 P454P18Yes/yes (0.234)
 P592P18Yes/yes (0.101)
 V795V28Yes/yes (0.120)
 H1069H18Yes/yes (0.234)
  • * Data accessed on 8 March 2011.

  • Homozygous in one of the patients.