Table 1 of Tang, Mol Vis 2016; 22:917-932.

Table 1. FZD4 variants identified in 100 probands with familial exudative vitreoretinopathy and 150 control subjects.

Family Location Allele status cDNA Change Protein Change Type Probands With FEVR Control SIFT PolyPhen2 Align Source
ID           (n=100) Subjects     GVGD  
              (n=150)        
33 Exon1 Hetero 107G>A G36D Missense 1/100 0/150 0.03,D Benign Class C65 [17]
26 Exon1 Hetero 133T>C C45R Missense 1/100 0/150 0,D Probably damaging Class C65 Novel
43 Exon1 Hetero 133T>A C45S Missense 1/100 0/150 0,D Possibly damaging Class C65 Novel
29 Exon1 Hetero 134G>A C45Y Missense 1/100 0/150 0,D Probably damaging Class C65 [15]
12 Exon1 Hetero 158G>C C53S Missense 1/100 0/150 0,D Probably damaging Class C65 Novel
42 Exon1 Hetero 223G>A A75T Missense 1/100 0/150 0,D Probably damaging Class C55 -
30 Exon1 Hetero 268T>C C90R Missense 1/100 0/150 0,D Probably damaging Class C65 Novel
36,44 Exon2 Hetero 313A>G M105V Missense 2/100 0/150 0.02,D Possibly damaging Class C15 [14,18-21]
27 Exon2 Hetero 957G>A W319X Nonsense 1/100 0/150 NA NA NA [21,22]
3,7 Exon2 Hetero 975_978delCACT T326fsX356 Deletion 2/100 0/150 NA NA NA Novel
4 Exon2 Hetero 1034_1054delCTTATTTCCACATTGCAGCCT S345_A351del Deletion 1/100 0/150 NA NA NA Novel
14,31,37,38,39,41 Exon2 Hetero 1282_1285delGACA D428fsX429 Deletion 6/100 0/150 NA NA NA [14,19,20]
25 Exon2 Hetero 1475delG G492fsX512 Deletion 1/100 0/150 NA NA NA Novel
28 Exon2 Hetero 1498delA T500fsX512 Deletion 1/100 0/150 NA NA NA [17]

Hetero: Heterozygous; NA: Not available; For SIFT, amino acids changes with probabilities <0.05 are predicted to be deleterious. (D: Deleterious. T: Tolerated); For Align GVGD, class C0 indicates that a change is unlikely to be pathogenic, while class C65 represents the highest likelihood of a change to be pathogenic.

Tang, Mol Vis 2016; 22:917-932. http://www.molvis.org/molvis/v22/917

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