Table 2.
Identified POR gene mutations on 54 unrelated alleles
| g.DNA position | Protein position | Location | Coding effect | Alleles | First published by |
|---|---|---|---|---|---|
| Del ex U1–1 | Ex U1, 1 | Deletion | 1 | Novel | |
| Dup ex 2–5 | Ex 2, 3, 4, 5 | Duplication | 1 | Novel | |
| 25,481dupA | p.Y87X | Ex 3 | Nonsense | 1 | Novel |
| 26,404 A>G | p.T142A | Ex 4 | Missense | 1 | (7) |
| 27,080 T>G | p.Y181D | Ex 5 | Missense | 1 | (4) |
| 27,102_27,113dup | p.G188_V191dup | Ex 5 | Duplication | 1 | Novel |
| 28,230 A>T | IVS6 − 2A>T | IVS 6 | Splice site | 1 | Novel |
| 27,550 C>T | p.R223X | Ex 6 | Nonsense | 1 | Novel |
| 28,332 dupT | IVS7 + 2dupT | IVS 7 | Splice site | 2 | Novel |
| 29,556 G>C | p.A287P | Ex 8 | Missense | 23 | (3, 4) |
| 29,645 G>A | IVS8 + 1G>A | IVS 8 | Splice site | 1 | Novel |
| 30,843dupC | p.Y376LfsX74 | Ex 10 | Frameshift | 1 | Novel |
| 31,146dupC | p.I444HfsX6 | Ex 11 | Frameshift | 1 | (6) |
| 31,180 delC | p.Q455RfsX90 | Ex 11 | Frameshift | 1 | Novel |
| 31,187 G>A | p.R457H | Ex 11 | Missense | 2 | (3, 4, 6) |
| 31,603_31,604del | p.V472AfsX102 | Ex 12 | Frameshift | 1 | Novel |
| s31,681G>C | p.R498P | Ex 12 | Missense | 2 | Novel |
| 31,967G>A | p.C569Y | Ex 13 | Missense | 1 | (3, 4) |
| 31,988dupA | p.Y576X | Ex 13 | Nonsense | 1 | Novel |
| 32,062delG | p.E601SfsX12 | Ex 13 | Frameshift | 1 | Novel |
| 32,171 G>A | p.Y607C | Ex 14 | Missense | 1 | (31, 32) |
| 32197C>T | p.R616X | Ex 14 | Nonsense | 1 | (7) |
| 32,234 A>C | p.H628P | Ex 14 | Missense | 1 | (21) |
| Not detected | 6 |
Ex, Exonic location; IVS, intervening sequence (designates intronic location).