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. Author manuscript; available in PMC: 2019 Aug 1.
Published in final edited form as: J Allergy Clin Immunol. 2018 Jun 18;143(2):726–735. doi: 10.1016/j.jaci.2018.04.027

TABLE II.

Summary of RAG2 mutations and recombination activity levels

No. Amino acid position Domain affected by the mutation Mutation Mean recombination activity (% of WT hRAG2) SEM
1 1 Core M1T 65.3 2.2
2 16 Core Q16X 1.7 0.4
3 35 Core G35A 22.1 3.1
4 35 Core G35V 0.4 0.3
5 39 Core R39G 0.2 0.1
6 41 Core C41W 0.2 0.4
7 62 Core F62L 19.6 3.0
8 65 Core D65Y 6.8 1.2
9 73 Core R73H 12.4 1.4
10 77 Core T77N 42.6 2.7
11 95 Core G95R 0.3 0.2
12 110 Core M110L 74.6 1.8
13 127 Core K127X 0.1 0.0
14 157 Core G157V 0.4 0.2
15 160 Core S160L 5.8 0.6
16 180 Core P180H 31.1 0.5
17 195 Core Y195D 2.0 0.3
18 215 Core T215I 67.2 1.0
19 229 Core R229Q 8.9 1.0
20 229 Core R229W 10.5 0.5
21 253 Core P253R 95.4 2.3
22 278 Core Q278X 0.1 0.1
23 285 Core M285R 24.7 0.8
24 307 Core W307X 0.2 0.2
25 386 Acidic F386L 109.1 5.0
26 407 Acidic E407X 2.9 0.4
27 416 PHD W416L 1.4 0.2
28 437 PHD E437K 0.9 0.2
29 440 PHD K440N 26.7 2.4
30 443 PHD M443I 0.4 0.2
31 444 PHD I444M 2.7 0.3
32 446 PHD C446W 2.9 0.1
33 451 PHD G451A 66.3 4.8
34 453 PHD W453R 0.6 0.1
35 456 PHD A456T 16.0 2.9
36 459 PHD M459L 30.8 0.6
37 474 PHD N474S 97.5 5.9
38 478 PHD C478Y 0.2 0.1
39 480 PHD E480X 2.8 0.6
40 481 PHD H481P 23.8 3.9
41 502 M502V 99.6 3.4

The activity of each RAG2 variant was determined by at least 3 independent experiments from which the mean value was calculated.

PHD, Plant homology domain.