Table 2.
Overview of the WEE2 Mutations Observed in Four Families
| Observed in Families | Genomic Position on chr. 7 (bp) | cDNA Change | Protein Change | Mutation Type | SIFTa | PPH2a | 1KG_easb | ExAC |
|---|---|---|---|---|---|---|---|---|
| Family 1 | 141,418,986 | c.G700C | p.Asp234His | missense | D | D | NA | NA |
| Family 2 | 141,427,183 | c.1473dupA | p.Thr493Asnfs∗39 | frameshift insertion | NA | NA | NA | NA |
| Family 3 | 141,408,777 | c.220_223delAAAG | p.Glu75Valfs∗6 | frameshift deletion | NA | NA | NA | 8.3 × 10−5 |
| Family 4 | 141,423,059 | c.1006_1007insTA | p.His337Tyrfs∗24 | frameshift insertion | NA | NA | NA | NA |
a
Mutation assessment by SIFT and PolyPhen2 (PPH2). D, damaging.
b
Frequency of corresponding mutations in the East Asian population of the 1000 Genome (1KG). NA, not available.