Table 5. Functional effect predictions and clinical data of patients with TIAM1 variants.
| Subject ID | Variant | Germinal | SIFT class | Polyphen-2 class | Mutation taster class | Conclusion | Signaling pathways affected | Age at diagnosis (months) | MYCN amplification | Stage (INSS) | Risk group | Relapse / Progression | RFS (months) | Exitus | OS (months) |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| TI_273 | T109I | NA | Damaging | Possibly damaging | Disease causing | Probably reduced protein function | MYCN | 24 | Yes | 3 | HR | No | 163 | No | 163 |
| TI_518 | T109I | Yes | Damaging | Possibly damaging | Disease causing | Probably reduced protein function | MYCN | 5 | No | 4S | LR | No | 68 | No | 68 |
| TI_464 | A163V | Yes | Tolerated | Benign | Disease causing | Possibly reduced protein function | MYCN | 1 | No | 3 | LR | No | 81 | No | 81 |
| TI_1036 | D424E | NA | Damaging | Probably damaging | Disease causing | Probably reduced protein function | MYCN RAS RAC |
47 | Yes | 4 | HR | No | 13 | No | 13 |
| TI_952 | A429T | Yes | Damaging | Probably damaging | Disease causing | Probably reduced protein function | MYCN RAS RAC |
87 | No | 4 | HR | No | 13 | No | 13 |
| TI_301 | R788Q | NA | Tolerated | Probably damaging | Disease causing | Probably reduced protein function | RAS | 19 | No | 1 | LR | No | 160 | No | 160 |
| TI_252 | c.2389- 7insT | Yes | Polymorphism | Unknown1 Splice site changes | RAS | 16 | No | 4 | IR | No | 47 | No | 47 | ||
| TI_134 | D1023V | Yes | Tolerated | Benign | Disease causing | Possibly reduced protein function | RAC | 21 | No | 3 | LR | No | 133 | No | 133 |
| TI_384 | D1023V | NA | Tolerated | Benign | Disease causing | Possibly reduced protein function | RAC | 27 | Yes | 4 | HR | No | 121 | No | 121 |
| NBX_18 | I1249T | NA | Tolerated | Possibly damaging | Disease causing | Probably reduced protein function | RAC | 44 | No | 4 | HR | Yes | 26 | No | 71 |
| NBX_31 | c.3943- 5delCTC | NA | Polymorphism | Unknown2 Splice site changes | RAC | 6 | No | 2 | LR | No | 22 | No | 22 | ||
| TI_480 | K1469R | NA | Tolerated | Benign | Polymorphism | Unknown3 Splice site changes | RAC | 7 | No | 4 | IR | No | 59 | No | 59 |
1 Splice site changes predicted by NetGene2 and NNSplice; 2 Splice site changes predicted by Mutation taster, SpliceView, NetGene2 and NNSplice; 3 Splice site changes predicted by Mutation taster and Human Splicing Finder; Abbreviations: HR, High risk; INSS, International Neuroblastoma Staging System; IR, Intermidiate Risk; LR, Low risk; NA, Not available; RFS, Relapse-free survival; OS, Overall survival.