Table 1.
Summary of SIK1 Mutations Found in Six Subjects with Developmental Epilepsy
| Subject | Genomic Coordinates (hg19) | cDNA | Amino Acid Substitution | Inheritance | Present in EVS | Present in ExAC | SIFT/PolyPhen | GERP |
|---|---|---|---|---|---|---|---|---|
| DB13-001 | chr21: g.44840227G>T | c.895C>A | p.Pro287Thr | de novo | no | no | 0.22/0.081 | −1.55 |
| DB14-013 | chr21: g.44839819C>A | c.1039G>T | p.Glu347∗ | ND | no | no | – | 5.16 |
| EP-055 | chr21: g.44839247T>A | c.1231A>T | p.Ser411Cys | de novo | no | no | 0.03/0.751 | −0.88 |
| IS13-013 | chr21: g.44837559G>A | c.1840C>T | p.Gln614∗ | de novo | no | no | – | 4.07 |
| IS09-018 | chr21: g.44837502G>A | c.1897C>T | p.Gln633∗ | ND | no | no | – | 4.07 |
| LR05-086 | chr21: g.44837493C>T | c.1906G>A | p.Gly636Ser | de novo | no | no | 0.46/0.093 | −0.48 |
Abbreviations are as follows: ND, no data because parental samples not available; EVS, NHLBI Exome Variant Server; ExAC, Exome Aggregation Consortium; SIFT, Sorting Intolerant From Tolerant score; PolyPhen, Polymorphism Phenotyping score; GERP, Genomic Evolutionary Rate Profiling score.