Table 1.
Gene | Alleles, WT or mut | DNA sequence, TATA-like box; 5′-3′ | Prognosis, −ln KD |
---|---|---|---|
HBB |
WT rs63750400:G rs281864525:T rs34598529:G rs33980857:A rs33980857:C rs33980857:G rs33981098:C rs33981098:A rs34500389:T rs34500389:A rs33931746:C |
cagggctgggcataaaactcagggcagag cagggctgggcataaaaGtcagggcagag cagggctgggcataaaTctcagggcagag cagggctgggcatGaaactcagggcagag cagggctgggcaAaaaactcagggcagag cagggctgggcaCaaaactcagggcagag cagggctgggcaGaaaactcagggcagag cagggctgggcCtaaaactcagggcagag cagggctgggcGtaaaattcagggcagag cagggctgggTataaaactcagggcagag cagggctgggActaaaactcagggcagag cagggctgggcataCaactcagggcagag |
19.20 19.12 19.169 17.849 17.701 18.172 17.673 18.553 18.062 20.175 18.635 18.341 |
HBB_2 |
WT rs35518301:G |
ggaccagcacaaaaggcagggcagag ggaccagcacGaaaggcagggcagag |
19.29 18.65 |
HBZ |
WT rs113180943:T rs1035033590:C |
cagctccctgtaataaggggaccctg cagctccctgtaTtaaggggaccctg cagctccctgtaataaggCgaccctg |
20,76 19,28 20,773 |
HBZ_3 |
WT rs559282746:G |
ggagggtggggcccctatctctcct ggagggtggggcGcctatctctcct |
17.611 17.605 |
HBA1 |
WT rs571582665:T |
gcgccccaagcataaacctggcgcgc gcgccccaagcataaacTtggcgcgc |
18.36 18.62 |
HBG1 |
WT rs573241527:G |
agggtgcttccttttattcttcatcc agggtgcttccttttCttcttcatcc |
19.06 17.54 |
HBM |
WT rs905730148:A rs937192507:C |
ggtgcccggaggctctataaggaggc ggtgcccggagAccctataaggaggc ggtgcccggaggcccCataaggaggc |
19.13 19.23 19.95 |
HBE1 |
WT rs768296486:A rs1036491581:G rs150246840:C |
aggcaaaaagagagcttgtgtagagc aggcaaaaagagagAttgtgtagagc aggcaaaaagagagaGtgtgtagagc aggcaaaaagagaggttgtgtagCgc |
18.31 18.16 18.01 18.16 |
Notes: Ancestral (WT) and minor (mut) alleles; KD, dissociation constant of the TBP–DNA complex [13]; Genes: HBB, β-globin; HBB_2, β-globin promoter 2; HBZ zeta-globin; HBZ_3 zeta-globin promoter 3; HBA1, α1-globin; HBG1 Aγ globin; HBM Hemoglobin subunit μ; and HBE1 ε-globin