Table 1 of
Yang, Mol Vis 2012; 18:2438-2446. Table 1 of
Yang, Mol Vis 2012; 18:2438-2446.
Table 1. Mutations identified in the FZD4 and LRP5 genes of the families with FEVR.
| Family number | Gene/exon | DNA change | Allele status | Protein change | Computational prediction | Occurrence in | Note | ||
|---|---|---|---|---|---|---|---|---|---|
| Blosum 62 | PolyPhen | families | controls | ||||||
| QT692,QT926 | FZD4/2 | c.313A>G | Hetero | p.Met105Val | 5→-2 | probably damaging | 2/49 | N/A | Known [25] |
| QT928 | FZD4/2 | c.631T>C | Hetero | p.Tyr211His | 7→2 | benign | 1/49 | 0/96 | Novel |
| HM484 | FZD4/2 | c.1282–1285delGACA | Hetero | p.Asp428SerfsX2 | N/A | N/A | 1/49 | 0/96 | Novel |
| QT413 | FZD4/2 | c.1482G>A | Hetero | p.Trp494* | N/A | N/A | 1/49 | 0/96 | Novel |
| QT916 | FZD4/2 | c.1513C>T | Hetero | p.Gln505* | N/A | N/A | 1/49 | N/A | Known [18] |
| QT960 | LRP5/5 | c.891–892delTC | Hetero | p.Arg298Leu fsX2 | N/A | N/A | 1/49 | 0/96 | Novel |
| QT191 | LRP5/11 | c.2484C>G | Hetero | p.Ile828Met | 4→1 | probably damaging | 1/49 | 0/96 | Novel |
| QT191 | LRP5/12 | c.2626G>A | Hetero | p.Gly876Ser | 6→0 | probably damaging | 1/49 | 0/96 | Novel |
| QT476 | LRP5/15 | c.3361A>G | Hetero | p.Asn1121Asp | 6→1 | possibly damaging | 1/49 | N/A | Known [27] |
| QT796 | LRP5/19 | c.4025G>A | Hetero | p.Arg1342Gln | 5→1 | probably damaging | 1/49 | 0/96 | Novel |
| QT934 | LRP5/19 | c.4087G>A | Hetero | p.Asp1363Asn | 6→1 | probably damaging | 1/49 | 0/96 | Novel |