Table 2 Summary of the PRDM1 missense variants and mutations found in 8 out of 16 cases analyzed by targeted exonic next-generation sequencing
From: Plasmablastic lymphoma phenotype is determined by genetic alterations in MYC and PRDM1
Case ID | Location | Domain | Allele | cDNA position | Codons | AA | Change | Consequence* | Existing variation |
|---|---|---|---|---|---|---|---|---|---|
1 | Exon 5 | T | 1058 | aCa/aTa | 275 | T/I | Missense/neutral | dbSNP rs777939985 | |
1 | Exon 5 | Pro | T | 1365 | ttG/ttT | 377 | L/F | Missense/neutral | — |
1 | Exon 5 | A | 1037 | cGt/cAt | 268 | R/H | Missense/neutral | COSM3154292 somatic | |
9 | Exon 4 | PR | G | 843 | gaC/gaG | 203 | D/E | Missense/neutral | dbSNP rs811925* |
10 | Exon 2 | Ac | T | 352 | Gac/Tac | 40 | D/Y | Missense/deleterious | — |
13 | Exon 4 | PR | A | 683 | gGc/gAc | 150 | G/D | Missense/deleterious | — |
15 | Exon 5 | A | 1037 | cGt/cAt | 268 | R/H | Missense/neutral | COSM3154292 somatic | |
16 | Exon 4 | PR | G | 843 | gaC/gaG | 203 | D/E | Missense/neutral | dbSNP rs811925* |
16 | Exon 5 | Pro | A | 1295 | aGc/aAc | 354 | S/N | Missense/neutral | dbSNP rs143040512* |
16 | Exon 7 | Zn finger | T | 2251 | Cac/Tac | 673 | H/Y | Missense/deleterious | — |
16 | Exon 5 | A | 982 | Gtg/Atg | 250 | V/M | Missense/deleterious | COSM3748876 somatic | |
17 | Exon 5 | T | 914 | aGt/aTt | 227 | S/I | Missense/neutral | — | |
17 | Exon 5 | A | 982 | Gtg/Atg | 250 | V/M | Missense/deleterious | COSM3748876 somatic | |
17 | Exon 5 | A | 1072 | Ctc/Atc | 280 | L/I | Missense/neutral | — | |
17 | Exon 7 | T | 2675 | aAg/aTg | 814 | K/M | Missense/deleterious | — | |
17 | Exon 7 | A | 2708 | cCt/cAt | 825 | P/H | Missense/deleterious | — | |
17 | Exon 4 | PR | A | 768 | aaC/aaA | 178 | N/K | Missense/deleterious | — |
23 | Exon 2 | PR | T | 388 | Gct/Tct | 52 | A/S | Missense/neutral | — |
23 | Exon 2 | PR | T | 393 | gaG/gaT | 53 | E/D | Missense/neutral | — |
23 | Exon 5 | A | 953 | cCa/cAa | 240 | P/Q | Missense/neutral | — |
