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. Author manuscript; available in PMC: 2016 Jul 1.
Published in final edited form as: J Allergy Clin Immunol. 2015 Apr 25;136(1):140–150.e7. doi: 10.1016/j.jaci.2015.03.005

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