Table 2 Overview and bioinformatic prediction of the novel WEE2 mutations
Genomic position on chr. 7 (bp) | Exon | cDNA change | Protein change | Mutation type | 1000 genome | ExAC | Human splicing finder | SIFT-2 | PolyPhen-2 | Mutation taster |
|---|---|---|---|---|---|---|---|---|---|---|
141,427,249 | IVS10 | c.1535 + 3A > G | – | Splicing | Not found | Not found | Broken WT Donor Site | – | – | Disease causing |
141,422,999 | exon6 | c.946C > T | p.Leu316Phe | Missense | Not found | Not found | – | Deleterious | Probably damaging | Disease causing |