Study of hereditary xerocytosis-associated PIEZO1 variants
| Mutation . | Inactivation kinetics . | Osmotic phenotype . | Trafficking defect . | ||||
|---|---|---|---|---|---|---|---|
| N . | Threshold, µm . | Inactivation time constant, Τ (ms) . | n . | Fold of amplitude increase relative to osmotic . | Comments . | ||
| WT | 41 | 5.3 ± 0.2 | 6.1 ± 0.2 | 8 | 19.1 ± 0.2*** | Increase in peak current | None |
| M2225R | 10 | 5.0 ± 0.2 | 11.0 ± 0.9* | 4 | 14.2 ± 0.2*** | Like WT | None |
| R2456H | 12 | 5.0 ± 0.3 | 17.4 ± 1.0*** | 0 | No data | No data | None |
| R1943Q | 30 | 5.1 ± 0.2 | 12.6 ± 1.1*** | 0 | No data | No data | None |
| R2088G | 13 | 3.8 ± 0.3*** | 6.8 ± 0.5 | 4 | 12.1 ± 0.5*** | Like WT | Colocalization with ER and Golgi |
| R2488Q | 23 | 3.9 ± 0.2*** | 6.9 ± 0.5 | 8 | 4.2 ± 0.1* | Blunted response | Colocalization with ER and Golgi |
| R2302H | 27 | 4.1 ± 0.2*** | 5.8 ± 0.2 | 6 | 0.3 ± 0.1 | No response | Colocalization with ER and Golgi |
| K1877del | 20 | 4.9 ± 0.2 | 5.3 ± 0.2* | 6 | 3.2 ± 0.1* | Blunted response | None |
| E2496ELE | 30 | 4.7 ± 0.2 | 9.9 ± 0.5*** | 4 | 0.9 ± 0.1 | No response | None |
| Mutation . | Inactivation kinetics . | Osmotic phenotype . | Trafficking defect . | ||||
|---|---|---|---|---|---|---|---|
| N . | Threshold, µm . | Inactivation time constant, Τ (ms) . | n . | Fold of amplitude increase relative to osmotic . | Comments . | ||
| WT | 41 | 5.3 ± 0.2 | 6.1 ± 0.2 | 8 | 19.1 ± 0.2*** | Increase in peak current | None |
| M2225R | 10 | 5.0 ± 0.2 | 11.0 ± 0.9* | 4 | 14.2 ± 0.2*** | Like WT | None |
| R2456H | 12 | 5.0 ± 0.3 | 17.4 ± 1.0*** | 0 | No data | No data | None |
| R1943Q | 30 | 5.1 ± 0.2 | 12.6 ± 1.1*** | 0 | No data | No data | None |
| R2088G | 13 | 3.8 ± 0.3*** | 6.8 ± 0.5 | 4 | 12.1 ± 0.5*** | Like WT | Colocalization with ER and Golgi |
| R2488Q | 23 | 3.9 ± 0.2*** | 6.9 ± 0.5 | 8 | 4.2 ± 0.1* | Blunted response | Colocalization with ER and Golgi |
| R2302H | 27 | 4.1 ± 0.2*** | 5.8 ± 0.2 | 6 | 0.3 ± 0.1 | No response | Colocalization with ER and Golgi |
| K1877del | 20 | 4.9 ± 0.2 | 5.3 ± 0.2* | 6 | 3.2 ± 0.1* | Blunted response | None |
| E2496ELE | 30 | 4.7 ± 0.2 | 9.9 ± 0.5*** | 4 | 0.9 ± 0.1 | No response | None |
Values are mean ± standard error of the mean unless otherwise indicated.
ER, endoplasmic reticulum; n, number of experiments; N, number of tested cells; WT, wild type.
P < 0.05; ***P < 0.001 (Student t test).