Table 1.
Mutation | Predicted location | Hepatosteatosis | Secretion | Retention | Reference |
---|---|---|---|---|---|
A31P | β-barrel | yes | <5% normal | Golgi | [50] |
G275S | α-helix | yes | 60% normal | n.d. | [50] |
L324M | α-helix | yes | 50% normal | n.d. | [50] |
L343V | α-helix | yes | 50% normal | ER | [48] |
R463W | α-helix | yes | 50% normal | ER | [47] |
G912D | β-sheet | yes | nearly normal | n.d. | [50] |
G945S | β-sheet | yes | 50% normal | n.d. | [50] |
n.d, not determined