Table 2.

Recombination and DNA repair activity levels of DCLRE1C mutated products

Mutations in DCLRE1C		Activity levels in % of WT activity
Genomic	Protein	Recombination		DNA repair (36h after IR)
		Mean	SD	Mean	SD
Metallo-β-Lactamase Domain
c.1A>G	M1V	86.32	1.67	95.35	11.60
c.2T>C	M1T	80.41	4.77	76.04	6.43
c.19C>T	Q7*	0.00	0.35	13.52	6.66
c.47T>C	I16T	79.67	0.27	80.11	18.11
c.82G>C	A28P	3.00	0.15	5.13	11.95
c.95C>T	S32F	5.14	0.34	20.95	6.17
c.95C>G	S32C	0.00	0.40	6.56	8.73
c.103C>G	H35D	0.00	0.30	27.29	16.57
c.110A>G	D37G	5.24	0.65	19.15	13.04
c.194C>T	T65I	83.75	1.32	89.45	14.05
c.207_209delGTT	L70del	90.01	0.77	92.63	0.96
c.211A>C	T71P	89.52	0.80	81.03	4.18
c.241C>T	R81*	19.48	1.56	16.05	4.77
c.281delC	S94*2	0.00	1.01	31.86	0.04
c.353G>T	G118V	0.00	0.62	0.00	28.89
c.356C>G	S119*	0.00	0.27	15.59	4.51
c.362T>C	M121T	51.87	1.45	59.88	21.87
c.377G>A	G126D	27.40	0.21	50.80	3.31
c.400A>G	T134A	89.04	2.43	111.18	2.53
c.401C>G	T134R	0.00	0.44	13.21	4.25
c.404G>A	G135E	11.57	0.54	42.84	29.68
c.457G>A	G153R	101.82	0.45	110.04	7.03
β-CASP Domain
c.493G>A	D165N	53.26	1.28	78.20	8.48
c.494A>T	D165V	0.00	0.62	17.71	4.91
c.512C>G	P171R	95.79	0.62	104.12	4.91
c.571C>T	R191*	0.00	0.87	0.00	12.11
c.597C>A	Y199*	0.00	1.21	7.46	19.56
c.682C>A	H228N	74.00	1.31	63.14	5.13
c.716delC	P239*46	0.00	0.73	18.30	8.29
c.761A>T	H254L	39.89	1.73	20.85	4.11
c.781delG	A261*24	12.69	0.61	60.92	11.34
c.1050delA	V351*5	0.00	0.29	0.00	4.21
c.1140_1146delAGTTCAC	V381*19	0.00	0.71	42.18	14.54
c.1147C>T	R383*	35.84	1.78	67.60	5.46
C-Terminal Domain
c.1167_1168insAG	D390*13	0.00	0.30	36.84	9.00
c.1179delT	F393*9	0.00	0.42	18.07	19.99
c.1290_1306del17	T432*16	82.49	0.12	88.29	1.09
c.1299_1306dupAGGATGCT	C436*	77.26	0.42	98.89	1.26
c.1353_1359delTTGTGAA	D451*11	88.57	1.64	77.43	6.53
c.1391_1395delGAATC	G464*18	39.21	0.71	55.22	7.76
c.1464delG	Q488*56	89.38	0.46	86.14	2.59