TABLE II.
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.