Table 1. Description of FAS mutations in T-LBL samples.

Sample	Mutation in DNAa	Change in protein	Domain affected	Predicted effectb	Predicted effect on Fas/FasL pathwayc
#000–220	c.[290T>C; 900_901insA]	p.[Phe97Ser; Ala301Serfs*20]	CRD2	Possibly damaging (Score 0.632)	Interaction FAS-FASL possibly altered/reduced mFAS expression?/Apoptosis possibly reduced (dominant-negative effect)
			DD	Possibly damaging (Score 0.922)
#00800-SD1–1	c.403_404insT	p.Cys135Leufs*2	CRD3	Probably damaging (Score 1.000)	Protein expression probably reduced/abrogated (premature termination before the TM > truncated protein)
#02M-121	c.[70A>G; 506_568del]	p.[Asn24Asp; Gly169_Trp189del]	SP	Benign (Score 0.002)	Isoform FASdeltaExon6 (DTM) > soluble protein (sFAS) > reduced mFAS expression
			TM	—
#20040730	c.418T>C	p.Cys140Arg	CRD3	Probably damaging (Score 1.000)	Interaction FAS-FASL probably altered/Reduced mFAS expression?
#04011685	c.403_404insT	p.Cys135Leufs*2	CRD3	Probably damaging (Score 1.000)	Protein expression probably reduced/abrogated (premature termination before the TM > truncated protein)

The mutation at the DNA level, the change in the protein, the protein domain affected, the predicted severity of the damage and the predicted effect on the Fas signaling are indicated.

^aFrom ATG.

^bBased on Polyphen-2 software.

^cBased on literature^{21, 22, 23, 24}