RAG1 Polymorphism and Variants
| RNA sequence EMBL:M29474
|
Amino acid sequence SWISSPROT:
P15918
|
Number of patients analysed | Number of chromosomes tested | Frequency of nucleotides % | Publication | |||||||
| Position |
Variation W>M |
Position |
Variation W>M |
W | M | n | W | M | n | W | M | |
| 579 | C>T | 156 | A>V | 64 | 1 | 65 | >99 | <1 | Schwarz et al. Science 1996 Oct 4 274:5284 97-9 | |||
| 579 | C>T | 156 | A>V | 1 | 1 | Signorini et al. Blood 1999 Nov 15;94(10):3468-78 | ||||||
| 842 | A>G | 244 | R>G | 70 | 14 | 84 | 83 | 17 | Nomdedéu et al. Human Mutation 8:2 191-2 | |||
| 842 | A>G | 244 | R>G | 198 | 30 | 228 | 87 | 13 | Nomdedéu et al. Leukemia 10:11 1715-18 | |||
| 858 | G>A | 249 | R>H | 56 | 28 | 84 | 67 | 33 | Nomdedéu et al. Human Mutation 8:2 191-2 | |||
| 858 | G>A | 249 | R>H | 151 | 77 | 228 | 66 | 34 | Nomdedéu et al. Leukemia 10:11 1715-18 | |||
| 858 | G>A | 249 | R>H | 9 | 1 | 10 | 90 | 10 | Wada et al. Clin Exp Immunol 119:1 148-55 | |||
| 2571 | A>G | 820 | K>R | 17 | 13 | 30 | 57 | 43 | Wada et al. Clin Exp Immunol 119:1 148-55 | |||
| 2992 | A>G | 960 | A>A | 135 | 11 | 146 | 92.5 | 7.5 | Nomdedéu et al. Leukemia 9:1 229-30 | |||