Table 1.
Somatic gene mutations detected in APCCs.
| Gene | Mutation | Reference |
|---|---|---|
| ATP1A1 | L104R* | (33) |
| L104V* | (40) | |
| V332G* | (40) | |
| E687K | (33) | |
| M734L | (40) | |
| ATP2B3 | D77N | (33) |
| E135K | (33) | |
| G270D | (33) | |
| G325D | (33) | |
| R345Q | (40) | |
| A790V | (33) | |
| S1137F | (33) | |
| P1150L | (33) | |
| A1157V | (33) | |
| CACNA1D | E124K | (30) |
| L248F | (30) | |
| V259G | (30) | |
| L272R | (30) | |
| G323R | (30) | |
| V401L* | (30) | |
| G403R** | (30, 33, 40) | |
| S410L | (30, 33) | |
| G457R | (33) | |
| R510X | (33) | |
| P548L | (33) | |
| L613Q | (40) | |
| R619W | (40) | |
| S652L* | (30) | |
| L653P | (30) | |
| S724L | (30) | |
| F747C | (33) | |
| F747L** | (30, 33, 40) | |
| F747V** | (30, 33, 40) | |
| L748S | (30) | |
| 755_757del | (30) | |
| S969L | (30) | |
| R990H** | (30, 33) | |
| A998V** | (30, 33) | |
| A1011T | (30) | |
| I1015V | (30) | |
| F1147C | (33) | |
| F1147L | (30, 33) | |
| R1183H | (30) | |
| F1248L | (30, 33) | |
| D1273N | (30) | |
| P1336R* | (33) | |
| V1338M** | (30, 33, 40) | |
| I1352T | (33) | |
| P1499L | (33) | |
| T1835I | (30) | |
| W1836X | (33) |
*Mutations that have been previously reported in sporadic APAs.
**Mutations that have been previously reported in APAs and functionally characterized.