Summary of unique RBBP6 variants in familial and sporadic MPN cases
| Pedigree . | Sample . | Diagnosis . | JAK2/MPL/CALR . | cDNA change . | Amino acid change . | Polyphen 2 score . | Polyphen 2 prediction . | In healthy controls . |
|---|---|---|---|---|---|---|---|---|
| 1 | MPD214 | ET | MPL-W515L | c.4706G>T | R1569H | 0.766 | Possibly damaging | 0/715 |
| MPD219 | PMF | CALR-Type 1 | c.4706G>T | R1569H | — | — | — | |
| MPD227 | PMF | JAK2-V617F | c.4706G>T | R1569H | — | — | — | |
| 2 | f16p1 | PMF | JAK2-V617F | c.4961A>G | E1654G | 0.375 | Benign | 0/649 |
| 3 | 570 | PMF | JAK2-V617F | c.4352G>C | R1451T | 0.942 | Probably damaging | 0/642 |
| Sporadic | H_0327 | PV | JAK2-Ex12del | c.4331C>T | S1444F | 0.976 | Probably damaging | 0/650 |
| Sporadic | H_0580 | ET | JAK2-V617F | c.4331C>T | S1444F | 0.976 | Probably damaging | 0/650 |
| Sporadic | H_0437 | PV | — | c.5018C>T | A1673V | 0.010 | Benign | 0/607 |
| Pedigree . | Sample . | Diagnosis . | JAK2/MPL/CALR . | cDNA change . | Amino acid change . | Polyphen 2 score . | Polyphen 2 prediction . | In healthy controls . |
|---|---|---|---|---|---|---|---|---|
| 1 | MPD214 | ET | MPL-W515L | c.4706G>T | R1569H | 0.766 | Possibly damaging | 0/715 |
| MPD219 | PMF | CALR-Type 1 | c.4706G>T | R1569H | — | — | — | |
| MPD227 | PMF | JAK2-V617F | c.4706G>T | R1569H | — | — | — | |
| 2 | f16p1 | PMF | JAK2-V617F | c.4961A>G | E1654G | 0.375 | Benign | 0/649 |
| 3 | 570 | PMF | JAK2-V617F | c.4352G>C | R1451T | 0.942 | Probably damaging | 0/642 |
| Sporadic | H_0327 | PV | JAK2-Ex12del | c.4331C>T | S1444F | 0.976 | Probably damaging | 0/650 |
| Sporadic | H_0580 | ET | JAK2-V617F | c.4331C>T | S1444F | 0.976 | Probably damaging | 0/650 |
| Sporadic | H_0437 | PV | — | c.5018C>T | A1673V | 0.010 | Benign | 0/607 |
cDNA, complementary DNA; del, deletion; Ex12del, exon 12 deletion E543-D544.