Table 1.
Summary of NR2E3 variants identified.
| Patient | Variant | Protein | Genotype | Position | Location | gnomAD MAF |
PolyPhen2 | SIFT | Original Reference |
|---|---|---|---|---|---|---|---|---|---|
| I | c.226C > T | p.R76W | Het | Exon 2 | chr15: 72103930 | 0 | D | D | [1] |
| c.1048C > G | p.Q350E | Het | Exon 7 | chr15: 72106406 | 0 | D | D | Novel | |
| II | c.119-2A > C | Splicing | Hom | Intron 1 | chr15: 72103821 | 0.0005 | n/a | n/a | [1] |
| III | c.119-2A > C | Splicing | Het | Intron 1 | chr15: 72103821 | 0.0005 | n/a | n/a | [1] |
| c.639_640insT | p.P214SfsX39 | Het | Exon 5 | chr15: 72104744 | 0.000004 | n/a | n/a | Novel |
Chromosome position is based on build GRCh37/hg19; nucleotide and protein numbering is based on NR2E3 transcript NM_014249.3; Genome Aggregation Database, gnomAD; MAF, minor allele frequency; gnomAD, Polyphen, and SIFT were accessed on 1 September 2019. Polyphen predictions range from zero to one and variants are appraised qualitatively as benign (B) (0.00–0.15), possibly damaging (P) (0.16–0.85), or probably damaging (D) (0.86–1.00). SIFT results are reported to be tolerant (T) if tolerance index > 0.05 or intolerant (damaging (D)) if tolerance ≤0.05. Novel variants identified in this study are shaded.