Causative mutations in patients with Darier disease
| Patient . | ATP2A2 mutation . | Affected SERCA2 domain . |
|---|---|---|
| DD1 | Y203del | Actuator domain |
| DD2 | S920Y | Eighth transmembrane domain |
| DD3 | A998fsX33 | C-terminal segment in SERCA2b |
| DD4 | S346F | Phosphorylation domain |
| DD5 | N767S | Fifth transmembrane domain |
| Patient . | ATP2A2 mutation . | Affected SERCA2 domain . |
|---|---|---|
| DD1 | Y203del | Actuator domain |
| DD2 | S920Y | Eighth transmembrane domain |
| DD3 | A998fsX33 | C-terminal segment in SERCA2b |
| DD4 | S346F | Phosphorylation domain |
| DD5 | N767S | Fifth transmembrane domain |