Table 1.
Data summarizing single nucleotide polymorphisms in JAK2 associated with primary diffuse large B-cell lymphoma (n=40). Data was generated by bidirectional sequencing of all 25 JAK2 exons covering all 7 JAK2 JH domains.
| Point mutations |
Amino Acid |
Effect | RS# | Published Frequency | DLBCL (n) |
Location | |
|---|---|---|---|---|---|---|---|
| Genotype Detail | Alleles | ||||||
| C>T | 163 | His>His | rs10429491 | 0.408 / 0.452 / 0.140 (CC/CT/TT) 1 | 0.634 / 0.366 (C/T) 1 | 8 het; 6 homo | Exon 6 |
| C>T | n/a | n/a | rs41303235 | No data | No data | 3 het; 0 homo | UTR-5 |
| T>C | n/a | n/a | rs2274472 | 0.345/0.522/0.133 (AA/AG/GG) 2 | 0.606/0.394 (A/G) 2 | 16 het; 4 homo | UTR-5 |
| *C>G | 393 | Leu>Val | rs2230723 | 0.971 / 0.029 / 0.000 (CC/CG/GG) 1 | 0.985/ 0.015 (C/G) 1 | 2 het; 0 homo | Exon 9 |
| G>A | 830 | Leu>Leu | rs2230724 | 0.458/0.383/0.158 (AA/AG/GG) 1 | 0.650/ 0.350 (A/G) 1 | 12 het; 0 homo | Exon19 |
| A>T | n/a | n/a | rs2274649 | 0.483/0.467/0.050 (AA/AT/TT) 2 | 0.717/0.283 (A/T) 2 | 8 het; 4 homo | intron |
| 3’UTRhet_insCAT | n/a | n/a | No data | No data | No data | 1 het; 0 homo | 3’UTR |
1
ESP_Cohort_Populations
2
HapMap-CEU
*
non-synonymous SNP