Table 2. LRP5 variants in ADPKD patients.
| Family | Ethnicity | Position (GRCh37; hg19) | Variant (c.DNA; NM_002335.2) | Exon (NG_015835.1) | Predicted effect on protein | Polyphen2 (Class; score) | Mutpred | SIFT (Class; score) | Align GVGD | PhyloP | Grantham score | Frequency in controlsa (EVS) |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A | Moroccan | g.68171046 | c.1680G>T | 8 | p.(Trp560Cys) | Probably damaging (1.00) | 0.770 | Deleterious (0.00) | Class C65 (GV:0.00-GD:214.36) | 5.54 | 215 | 1/12 988 |
| B | Dutch | g.68191036 | c.3107G>A | 14 | p.(Arg1036Gln) | Possibly damaging (0.658) | 0.785 | Tolerated (0.06) | Class C0 (GV:28.82-GD:19.90) | 1.74 | 42 | 1/245 |
| C | Dutch | g.68192736 | c.3403C>T | 15 | p.(Arg1135Cys) | Probably damaging (1.00) | 0.586 | Deleterious (0.00) | Class C65 (GV:0.00-GD:179.53) | 4.00 | 180 | 1/1299 |
| D | Dutch | g.68193486 | c.3468G>C | 16 | p.(Gln1156His) | Probably damaging (1.00) | 0.702 | Deleterious (0.00) | Class C15 (GV:0.00-GD:24.08) | 3.76 | 24 | — |
a
Allele frequency.