Table 4:
NR2E1 patient variants predicted to alter neural transcription factor consensus-binding sites
| Variant type | Nucleotide variant | Location | Transcription factor binding site | Transcription factor (s) | Role in brain | Orthologous major allele in other species* | ||||
|---|---|---|---|---|---|---|---|---|---|---|
| Human | Apes | Macaque | Mouse | Fugu | ||||||
| Candidate mutation | g.-1767G>T | PPR | Created | lA-1 | Regulator of neuronal development | G | G | G | na | na |
| Created | NRSE | Repressor of multiple neuronal genes | ||||||||
| Candidate mutation | g.-1726C>A | CE12A | Abolished | SP1 | Regulator of neuronal survival | C | C | C | C | C |
| Candidate mutation | g.8213T>C | Intron 3 | Abolished | OCT-1 | Regulator of neuronal differentiation | T | T | T | T | T |
| Created | BRN-5 | Regulator of neuronal differentiation | ||||||||
| Created | PAX-6 | Regulator of neuronal Proliferation and fate | ||||||||
| Candidate mutation | g.14718C>T | Intron 7 | Created | TBX5 | Regulator of eye morphogenesis | C | N | na | na | na |
| Candidate mutation | g.2945A>G | CE11A | No effect | n/a | n/a | A | A | A | A | na |
| Candidate mutation | g.20765C>A | 3′-UTR | No effect | n/a | n/a | C | C | C | C | na |
| Candidate mutation | g.21502T>C | 3′-UTR | No effect | n/a | n/a | T | T | T | na | na |
| Functional polymorphism | g.-1453C>G | PPR | Created | EGR3 | Regulator of synaptic plasticity | C | C | C | na | na |
| Created | NUDR | Regulator of 5-HT1A receptor in neurons | ||||||||
| Functional polymorphism | g.11559C>T | Intron 5 | No effect | n/a | n/a | C | C | C | C | na |
| Functional polymorphism | g.21762C>A | 3′-UTR | No effect | n/a | n/a | C | C | C | na | na |
| Functional polymorphism | g.21796G>A | 3′-UTR | No effect | n/a | n/a | G | − | A | na | na |
See Table 3 for definitions.
EGR3, Early growth response gene 3 product.
n/a, not applicable.
*
apes include chimpanzee, gorilla, and orangutan. na, ortholgous region does not align with human sequence (in the case of ‘Macaque’, this region was sequenced but does not align; N, refers to nucleotide variability among apes; −, sequence data not available.