Table 2 Analysis of identified FZD4 mutations in patients of our study
From: Ocular phenotype and genetical analysis in patients with retinopathy of prematurity
Patient ID | Exon | Nucleotide changes | Protein changes | Genotype | SIFT | Polyphen-2 | Mutation Taster | ACMG | ExAC | gnomAD | Reference |
|---|---|---|---|---|---|---|---|---|---|---|---|
P09 | 1 | c.235C>A | p.L79M | Het | Damaging | PbD | DC | LP | NA | NA | Novel |
P11 | |||||||||||
P18 | 2 | c.1133A>G | p.Y378C | Het | Damaging | PbD | DC | LP | 0.00000824 | 0.00000657 | Novel |
P30 | 1 | c.4G>C | p.A2P | Het | Damaging | Benign | Polymorphism | Uncertain | NA | NA | Novel |