Table 2 of Fei, Mol Vis 2014; 20:395-409.


Table 2. LRP5 sequence variants in patients with familial exudative vitreoretinopathy from previous reports.

Nucleotide variant Effect Exon Occurrence in patients (probands) Occurrence in control alleles Disease Reference
Truncating changes
c.803_812del p.G269RfsX4 4 1/56 0/362 arFEVR [9]
c.2978G>A p.W993X 13 1/8 0/100 FEVR [10]
c.3804delA p.E1270RfsX169 18 1/32 0/400, FEVR, [27, 28]
c.4119dupC p.L1374QfsX176 20 1/32 0/400 FEVR [28]
c.891–892delTC p.Arg298Leu fsX2 5 1/49 0/96 FEVR [37]
Missense changes
c.433C>T p.L145F 2 1/56 0/362 FEVR [9]
c.518C>T p.T173M 3 1/32 0/400 FEVR [28]
c.1264G>A p.A422T 6 1/71 0/300 FEVR This study
c.1321G>A p.E441K 6 1/8 0/100 FEVR [10]
c.1330C>T p.R444C 6 1/56 0/362 FEVR [9]
c.1532A>C p.D511A 7 0.05 0/80 FEVR [38]
c.1564G>A p.A522T 7 1/56 0/362 FEVR [9]
c.1604C>T p.T535M 8 1/56 0/362 arFEVR [9]
c.1619T>C p. L540P 8 1/71 0/300 FEVR This study
c.1648G>A p.G550R 8 1/1 0/120 arFEVR [29]
c.1709G>A p.R570Q 8 1/3 0/200 arFEVR [26]
c.1828G>A p.G610R 9 1/56 0/362 arFEVR [9]
c.1850T>G p.F617C 9 1/56 0/362 arFEVR [9]
c.2302C>G p.R752G 19 1/3 0/200 arFEVR [26]
c.2392A>G p.T798A 11 1/56 0/362 FEVR [9]
c.2413C>T p.R805W 11 1/20 0/80 FEVR [38]
c.3361A>G p.N1121D 15 1/56 0/362 FEVR [9]
c.3502T>C p.Y1168H 16 1/32 0/400 FEVR [28]
c.3758G>T p.C1253F 17 1/8 0/100 FEVR [10]
c.4081T>G p.C1361G 19 1/32 0/400 FEVR [28]
c.4147G>A p.E1367K 20 1/3 0/200 arFEVR [26]
c.2484C>G p.Ile828Met 11 1/49 0/96 FEVR [37]
c.2626G>A p.Gly876Ser 12 1/49 0/96 FEVR [37]
c.4025G>A p.Arg1342Gln 19 1/49 0/96 FEVR [37]
c.4087G>A p.Asp1363Asn 19 1/49 0/96 FEVR [37]
Splice-site changes
c.4488+2T>G Splice defect 21 1/32 0/400 FEVR [28]
c.4489–1G>A Splice defect 22 1/8 0/100 FEVR [10]