Table 1.
Overview of the WEE2 mutations observed in three families
| Patients | Genomic position on chr. 7 (bp) | Exon | cDNA change | Protein change | Mutation type | SIFTa | PolyPhen2a | 1000genomeb | ExACb |
|---|---|---|---|---|---|---|---|---|---|
| 1 | 141,408,778 | 1 | c.220_223delAAAG | p.Glu75Valfs*6 | Frameshift | - | - | NA | NA |
| 141,416,067 | 3 | c.G585C | p.Lys195Asn | Missense | D | P | NA | NA | |
| 2 | 141,408,673 | 1 | c.115_116insT | p.Gln39Leufs*5 | Frameshift | - | - | NA | NA |
| 141,427,170 | 10 | c.C1459T | p.Arg487Trp | Missense | D | B | NA | 0.0006 | |
| 3 | 141,419,042 | 4 | c.756_758delTGA | p.Asn252Lysfs*316 | Frameshift | - | - | NA | NA |
| 141,423,059 | 6 | c.1006_1007insTA | p.His337Tyrfs*24 | Frameshift | - | - | NA | NA |
Abbreviations: cDNA, complementary DNA
aMutation assessment by SIFT and PolyPhen2. D, damaging; P, probably damaging; B, benign
bFrequency of corresponding mutations in the East Asian population of the 1000 Genome and ExAC database