The region examined was from 64561 to 64826 in the sequence file starting 5' to HS5. Coordinates in the GenBank file HUMHBB can be obtained by subtracting 2687.
64571 64577 NF1RE
64663 64672 BB1
64703 64709 TCATC
64717
upstream CACC?
64723
upstream CACC?
64729 64741 EKRE
64746 64753 CCAAT
64756 64760 3' to CCAAT
64764 64769 mouse GATA-60
64770 64792 beta DRE
64793 64799 ATA
64804
64812
64823 64825 Inr
Positions are in the human sequence in 1998 alignment, even when data
are from mouse sequence.
| Position | Change | Phenotype | Method | Reference |
| 5' UT | ||||
| 64845 | +22 G>A | 5' UT | beta plus-thal | Huisman et al (1997) Syllabus thal. mut. |
| 64836 | m+13 G>A | 5' UT | mut. MEL tfxn | Cowie&Myers (1988) MCB 8:3122-3128 |
| 64833 | +10 deltaT | 5'UT | beta plus-thal | Huisman et al (1997) Syllabus thal. mut. |
| cap site = Inr | ||||
| 64824 | +1 A>C | Inr | beta plus-thal | Huisman et al (1997) Syllabus thal. mut. |
| 64823-64825 | m-1 to+1 | Inr | in vivo FP | Reddy&Shen (1993) MCB 13:1093-1103 |
| 64812 | m-12 | GGATCAG | in vivo FP | Reddy&Shen (1993) MCB 13:1093-1103 |
| 64804 | m-20 G>A | GAGG | mut. MEL tfxn | Cowie&Myers (1988) MCB 8:3122-3128 |
| ATA | ||||
| 64796 | -28 A>G | ATAAAA | beta plus-thal | Huisman et al (1997) Syllabus thal. mut. |
| 64796 | -28 A>C | ATAAAA | beta plus-thal, Kurd. Jew | Poncz et al. (1982) JBC 257:5994 |
| 64795 | -29 A>G | ATAAAA | beta plus-thal | Antonarakis et al. (1984) PNAS 81:1154 |
| 64794 | -30 T>C | ATAAAA | beta plus-thal | Huisman et al (1997) Syllabus thal. mut. |
| 64794 | -30 T>A | ATAAAA | beta plus-thal | Huisman et al (1997) Syllabus thal. mut. |
| 64793 | -31 A>G | ATAAAA | beta plus-thal | Huisman et al (1997) Syllabus thal. mut. |
| 64793 | -31 A>C | ATAAAA | beta plus-thal | Huisman et al (1997) Syllabus thal. mut. |
| 64799 | m-25 G>T | ATATAAG | mut. MEL tfxn | Cowie&Myers (1988) MCB 8:3122-3128 |
| 64794-64798 | m-30 to -26 | TATAA | sat. mut. HeLa tfxn | Myers et al. (1986) Science 232:613-618 |
| 64794 | m-30 T>G | ATATAA | mut. MEL tfxn | Cowie&Myers (1988) MCB 8:3122-3128 |
| 64793-64798 | -31 to -26 | ATAAAA | in vitro footprints | deBoer et al. (1988) EMBO J |
| betaDRE | ||||
| 64792 | -32 C>A | CTGGGCA | beta plus-thal | Huisman et al (1997) Syllabus thal. mut. |
| 64777-64792 | m-47 to-32 | beta DRE | in vivo FP | Reddy&Shen (1993) MCB 13:1093-1103 |
| 64771-64792 | m-53 to-32 | beta DRE | cluster mut. MEL tfxn | Stuve&Myers (1990) MCB 10:972-981 |
| 64770-64792 | m-54 to-32 | beta DRE | in vitro FP, MI, mut | Stuve&Myers (1993) MCB 13:4311-4322 |
| 64787 | m-37 C>T, G | GGGCA | sat. mut. HeLa tfxn | Myers et al. (1986) Science 232:613-618 |
| 64774 | m-50 G>A | AGGGCA | mut. MEL tfxn | Cowie&Myers (1988) MCB 8:3122-3128 |
| mouse "GATA-60" | ||||
| 64765-64769 | m-60 to -55 | GATAGA | mut MEL tfxn | Macleod&Plumb('91)MCB 11:4324-4332 |
| 64764-64766 | m-61 to -59 | GGATAG | mut MEL,J2E tfxn | Taxman&Wojc.('95)JBC 270:6619-6627 |
| 3' to CCAAT | ||||
| 64758 | m-67 | CTCAC | in vivo FP | Reddy&Shen (1993) MCB 13:1093-1103 |
| 64756-64760 | m-69 to -65 2C>A, | CTCAC | mut. MEL tfxn | Cowie&Myers (1988) MCB 8:3122-3128 |
| CCAAT | ||||
| 64748-64753 | m-77 to -72 | CCAATC | in vivo FP | Reddy&Shen (1993) MCB 13:1093-1103 |
| 64729-64757 | -95 to-67 | CAC&CCAAT | in vitro footprint | deBoer et al. (1988) EMBO J |
| 64746-64753 | m-79 to -72 | CCAAT | sat. mut. HeLa tfxn | Myers et al. (1986) Science 232:613-618 |
| 64750 | m-75 A>G | CCAAT | mut. MEL tfxn | Cowie&Myers (1988) MCB 8:3122-3128 |
| CAC = EKRE | ||||
| 64738 | -86 C>G | CCACACCCT | beta plus-thal | Huisman et al (1997) Syllabus thal. mut. |
| 64738 | -86 C>A | CCACACCCT | beta plus-thal | Huisman et al (1997) Syllabus thal. mut. |
| 64737 | -87 C>T | CCACACCCT | beta plus-thal | Huisman et al (1997) Syllabus thal. mut. |
| 64737 | -87 C>G | CCACACCCT | beta plus-thal | Huisman et al (1997) Syllabus thal. mut. |
| 64737 | -87 C>A | CCACACCCT | beta plus-thal | Huisman et al (1997) Syllabus thal. mut. |
| 64736 | -88 C>T | CCACACCCT | beta plus-thal | Huisman et al (1997) Syllabus thal. mut. |
| 64736 | -88 C>A | CCACACCCT | beta plus-thal | Huisman et al (1997) Syllabus thal. mut. |
| 64734 | -90 C>T | CCACACCCT | beta plus-thal | Huisman et al (1997) Syllabus thal. mut. |
| 64732 | -92 C>T | CCACACCCT | beta plus-thal | Huisman et al (1997) Syllabus thal. mut. |
| 64730-64741 | m-95 to -84 | GCCACAS | in vivo FP | Reddy&Shen (1993) MCB 13:1093-1103 |
| 64729-64739 | -95 to -85 | CAC | EKLF; MI | deBoer et al. (1988) EMBO J |
| 64731-64739 | -93 to -85 | CCACACCCT | EKLF recog., activ. | Miller&Bieker (1993) MCB 13:2776-2786 |
| 64730-64738 | m-95 to -87 | GCCACACCC | sat. mut. HeLa tfxn | Myers et al. (1986) Science 232:613-618 |
| 64730-64738 | m-95 to -87 | GCCACACCC | mut. MEL tfxn | Cowie&Myers (1988) MCB 8:3122-3128 |
| 64732-64739 | m-93 TO -86 | CACACCCT | mut MEL tfxn | Macleod&Plumb('91)MCB 11:4324-4332 |
| Upstream CACC | ||||
| 64723 | -101 C>T | CCTCACCCT | beta plus-thal | Huisman et al (1997) Syllabus thal. mut. |
| 64717 | m-108 | GCCTGATT | in vivo FP | Reddy&Shen (1993) MCB 13:1093-1103 |
| TCATC | ||||
| 64705-64708 | m-120 to-117 | GTCATC | in vivo FP | Reddy&Shen (1993) MCB 13:1093-1103 |
| 64703-64709 | -121 to - 115 | GTCATCA | alpha2, MI | deBoer et al. (1988) EMBO J |
| BB1 | ||||
| 64668-64685 | -154 to -139 | AAGC | BB1, MI, in vitro FP | deBoer et al. (1988) EMBO J Note: boundaries are not clear |
| 64663-64672 | m-166 to -158 | SAAGCCCAGTG | mut MEL tfxn | Macleod&Plumb('91)MCB 11:4324-4332 |
| MGATA-212 | ||||
| 64609-64614 | m-212 to-207 | AGATAA | mut MEL tfxn | Macleod&Plumb('91)MCB 11:4324-4332 |
| BUT | ||||
| 64611 | m-211 NO EFFECT | AGATAA | mut MEL,J2E tfxn | Taxman&Wojc.('95)JBC 270:6619-6627 |
| NF1RE | ||||
| 64571-64577 | m-248 to-242 | TT,GCCAAAA | mut MEL tfxn | Macleod&Plumb('91)MCB 11:4324-4332 |