Assessing Candidate Gene nsSNPs for Phenotypic Differences in Double-Strand Break Repair Using Radiation-Induced 𝛾H2A.X Foci

Table 1

Selected nsSNPs and consequences based on in silico predictions.

Gene	RS number	AA change	Predicted consequence from in silico Programs
			PolyPhen		SIFT Ortholog		SIFT homolog
			Prediction of damage	Score^*	Prediction	Score^†	Prediction	Score^†
PNKP	rs3739186	Y196N	Probably	2.025	Tolerated	0.26	Tolerated	0.25
BRCA1	rs1799950	Q356R	Possibly	1.965	Damaging	0.04	Damaging	0.03
LIG4	rs1805388	T9I	Possibly	1.521	Damaging	0.01	Damaging	0.04
WRN	rs1346044	C1367R	Probably	2.327	Tolerated	0.06	Tolerated	0.10
ATM	rs1800057	P1054R	Probably	2.621	Damaging	0	Damaging	0

^*PolyPhen scores: ≤1.5  =  benign, >1.5and≤2  =  possibly damaging, >2  =  probably damaging.
^†SIFT scores: >0.05  =  tolerated, ≤0.05  =  damaging.