Mutation position | Change | Previously described regulatory elements | TFBS by multiTF | TFBS change | Genotype/subtype | |
---|---|---|---|---|---|---|
Creation | Abrogation | |||||
−203 | A → G | None | TFIID, GATA-1, Pit-1a | AP-1 | TFIID, GATA-1 | G7-I, II |
−202 | G → A | None | TFIID, GATA-1, Pit-1a | AP-1 | TFIID, GATA-1 | G7-I, II |
−170 | G → A | None | Sp1 | PR | – | G8-I, II |
−133 | G → C | TREx2 | XBP-3, GATA-1 | CREM-tau2, AP-1 | XBP-3, GATA-1 | G7-II |
−65 | T → C | GRE/TREx3 | CIIIB1 | GATA-1 | CIIIB1 | G4-I, G8-I, II |
−41 | T → A | TATA Box | GATA-1, TMF, Pit-1a, TFIID, Sp1, PR | NF-E2, RAR-gamma2 | GATA-1, TMF | G7-I |
−36 | T → C | None | TBP, AFP1, Pit-1a, GATA-1, TFIID | AP-1, ACF | TBP, AFP1 | G4-I |
+ 11 | T → C | None | Sp1, PR | AP-1 | – | G4-I, II, III, IV |
+ 150 | A → G | None | GATA-1 | – | – | G7-I, II |
+ 161 | T → C | DAS | PR | – | – | G7-II |
+ 162 | C → T | DAS | PR | Tf-LF1 | – | G4-IV |