Table 1.
Summary and in silico analysis of four LRP5 variants in polycystic liver disease
| Family ethnicity | Mutation (c.DNA) NM_002335.2 | Predicted effect on protein | PolyPhen2 | MutPred | SIFT |
| PCLD-1 Caucasian (Dutch) | c.3562C > T | p.R1188W | Probably damaging 1.00 | 0.552 | Deleterious 0.00 |
| PCLD-2 Caucasian (Dutch) | c.1360G > A | p.V454M | Possibly damaging 0.872 | 0.520 | Deleterious 0.01 |
| PCLD-3 Moroccan | c.4587G > C | p.R1529S | Possibly damaging 0.610 | 0.288 | Deleterious 0.00 |
| PCLD-4 Caucasian (Dutch) | c.4651G > A | p.D1551N | Probably damaging 0.999 | 0.235 | Deleterious 0.00 |