Patient mutations found in human MPL and TPO-associated with disease
| Protein . | Mutation . | Disease . |
|---|---|---|
| TPO | R38C/H/Q | CAMT |
| TPO | R99W | CAMT |
| TPO | R119C | CAMT |
| MPL | R102C/P | CAMT |
| MPL | F104S | CAMT |
| MPL | L265F (L257) | Thrombocytosis |
| MPL | Y252H (Y244) | ET |
| MPL | R257C/L (R249) | CAMT |
| MPL | S505N/C | ET and PMF |
| MPL | W515L/R | ET and PMF |
| Protein . | Mutation . | Disease . |
|---|---|---|
| TPO | R38C/H/Q | CAMT |
| TPO | R99W | CAMT |
| TPO | R119C | CAMT |
| MPL | R102C/P | CAMT |
| MPL | F104S | CAMT |
| MPL | L265F (L257) | Thrombocytosis |
| MPL | Y252H (Y244) | ET |
| MPL | R257C/L (R249) | CAMT |
| MPL | S505N/C | ET and PMF |
| MPL | W515L/R | ET and PMF |
Residue numbers in mouse MPL are shown in parentheses. Mutations that result from a gain of function are set in bold.
ET, essential thrombocythemia; PMF, primary myelofibrosis.