ZFPM2 sequence changes in patients with diaphragmatic eventrations
Observed change | Number of patients | Exon | 1000 genomes*/dbSNP (heterozygosity) | Predicted effect (PolyPhen) |
Non-synonymous changes | ||||
A403G | 1 | 8 | Yes/yes (0.341) | Benign/non-deleterious |
E782D | 2 | 8 | Yes/yes (0.078) | Benign/non-deleterious |
Synonymous changes | ||||
P454P | 1 | 8 | Yes/yes (0.234) | – |
P592P | 1 | 8 | Yes/yes (0.101) | – |
V795V | 2† | 8 | Yes/yes (0.120) | – |
H1069H | 1 | 8 | Yes/yes (0.234) | – |