TABLE 1.
Table for the detected Rad9B mutations in two SB cohorts
| Locus (GRCh37) | Case/Control | Predicted DNA change | Predicted Protein Variants | Function | SNP ID | SIFT | POLYPhen V2 Score | ExAC Frequency | gnomAD Frequency |
|---|---|---|---|---|---|---|---|---|---|
| Chr12:110960044 | Case | NM_152442.3:g. 110960044 delA | p.Ser318Serfs*28 | Frameshift | / | / | / | 0 | 0 |
| Chr12:110968402 | Case | NM_152442.3:g. 110968402 insC | p.Ala401Argfs*4 | Frameshift | / | / | / | 0.000074 | 0.000072 |
| Chr12:110960151 | Case | NM_152442.3:c.1060A>G | p.Ser354Gly | nonsynonymous SNV | / | 0.36 | 0.010 | 0 | 0 |
| Chr12:110940170 | Case | NM_152442.3: c.28A>G | p.Ser10Gly | nonsynonymous SNV | rs372056091 | 0.13 | 0.000 | 0.000018 | 0.000016 |
| Chr12:110950631 | Case | NM_152442.3: c.436C>G | p.Gln146Glu | nonsynonymous SNV | / | 0.01 | 0.373 | 0 | 0 |
| Chr12:110956546 | Case | NM_152442.3:c.661G>A | p.Gly221Arg | nonsynonymous SNV | rs763079713 | 0.02 | 1.000 | 0.000008 | 0.000004 |
| Chr12:110944446 | Case | NM_152442.3: c.336A>G | p.Ile112Met | nonsynonymous SNV | / | 0.05 | 0.980 | 0 | 0 |
| Chr12:110956530 | Case | NM_152442.3: c.645T>A | p.Phe215Leu | nonsynonymous SNV | / | 0.13 | 0.946 | 0 | 0 |
| Chr12:110952867 | Control | NM_152442.3: c.501T>G | p.Asp167Glu | nonsynonymous SNV | rs142286458 | 1.00 | 0.009 | 0.001806 | 0.000965 |
| Chr12:110960041 | Control | NM_152442.3: c.950T>C | p. p.Ile317Thr | nonsynonymous SNV | rs143029596 | 0.03 | 0.557 | 0.002620 | 0.001489 |
| Chr12:110950665 | Control | NM_152442.3: c.470C>T | p.Thr157Met | nonsynonymous SNV | rs7969568 | 0.27 | 0.239 | 0.006222 | 0.002174 |
| Chr12:110952892 | Control | NM_152442.3: c.526C>G | p.Gln176Glu | nonsynonymous SNV | rs61758787 | 0.45 | 0.990 | 0.002586 | 0.002029 |
| Chr12:110941725 | Control | NM_152442.3:c.117+44A>T | / | intronic SNV | rs141349325 | – | 0.022950 | 0.023080 |
Note: The down panel showed the variants found in controls. The NCBI Reference Sequence: NP_689655.3.
PolyPhen and SIFT scores predicted whether the mutants are deleterious or not. The SIFT score: Ranges from 0 to 1. The amino acid substitution is predicted damaging is the score is <=0.05 and tolerated if the score is >0.05. PolyPhen Score: 0.957–1: probably damage; 0.453–0.956: possible damage; 0–0.452: benign.