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. 2017 Apr 3;8(28):45286–45297. doi: 10.18632/oncotarget.16787

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.