GenBank-Updates@genbank.bio.net (08/28/90)
LOCUS HUMHBB221 3703 bp ds-DNA PRI 28-AUG-1990
DEFINITION Human beta-globin gene from a thalassemia patient, complete cds.
ACCESSION M34058
KEYWORDS beta-globin.
SEGMENT 1 of 2
SOURCE Huamn (patient GD) DNA.
ORGANISM Homo sapiens
Eukaryota; Animalia; Metazoa; Chordata; Vertebrata; Mammalia;
Theria; Eutheria; Primates; Haplorhini; Catarrhini; Hominidae.
REFERENCE 1 (bases 1 to 3703)
AUTHORS Thein,S.L., Hesketh,C., Taylor,P., Temperley,I.J., Hutchinson,R.M.,
Old,J.M., Wood,W.G., Clegg,J.B. and Weatherall,D.J.
TITLE Molecular basis for dominantly inherited inclusion body
beta-thalassemia
JOURNAL Proc. Natl. Acad. Sci. U.S.A. 87, 3924-3928 (1990)
STANDARD full staff_review
COMMENT Draft entry and computer-readable [or printed] sequence for [1]
kindly submitted by S.L.Thein, 07-MAY-1990.
FEATURES from to/span description
pept 1612 1703 beta-globin, exon 1
1834 2056 beta-globin, exon 2
2907 + 3015 beta-globin, exon 3
IVS 1704 1833 beta-globin intron A
IVS 2057 2906 beta-globin intron B
IVS 3016 > 3703 beta-globin intron C
signal 1484 1492 CAAT box
signal 1532 1538 TATA box
BASE COUNT 1055 a 707 c 736 g 1205 t
ORIGIN
1 tctatttatt tagcaataat agagaaagca tttaagagaa taaagcaatg gaaataagaa
61 atttgtaaat ttccttctga taactagaaa tagaggatcc agtttctttt ggttaaccta
121 aattttattt cattttattg ttttatttta ttttatttta ttttatttta ttttgtgtaa
181 tcgtagtttc agagtgttag agctgaaagg aagaagtagg agaaacatgc aaagtaaaag
241 tataacactt tccttactaa accgacatgg gtttccaggt aggggcagga ttcaggatga
301 ctgacagggc ccttagggaa cactgagacc ctacgctgac ctcataaatg cttgctacct
361 ttgctgtttt aattacatct tttaatagca ggaagcagaa ctctgcactt caaaagtttt
421 tcctcacctg aggagttaat ttagtacaag gggaaaaagt acagggggat gggagaaagg
481 cgatcacgtt gggaagctat agagaaagaa gagtaaattt tagtaaagga ggtttaaaca
541 aacaaaatat aaagagaaat aggaacttga atcaaggaaa tgattttaaa acgcagtatt
601 cttagtggac tagaggaaaa aaataatctg agccaagtag aagacctttt cccctcctac
661 ccctactttc taagtcacag aggctttttg ttcccccaga cactcttgca gattagtcca
721 ggcagaaaca gttagatgtc cccagttaac ctcctatttg acaccactga ttaccccatt
781 gatagtcaca ctttgggttg taagtgactt tttatttatt tgtatttttg actgcattaa
841 gaggtctcta gttttttatc tcttgtttcc caaaacctaa taagtaacta atgcacagag
901 cacattgatt tgtatttatt ctatttttag acataattta ttagcatgca tgagcaaatt
961 aagaaaaaca acaacaaatg aatgcatata tatgtatatg tatgtgtgta catatacaca
1021 tatatatata tatttttttt cttttcttac cagaaggttt taatccaaat aaggagaaga
1081 tatgcttaga actgaggtag agttttcatc cattctgtcc tgtaagtatt ttgcatattc
1141 tggagacgca ggaagagatc catctacata tcccaaagct gaattatggt agacaaaact
1201 cttccacttt tagtgcatca atttcttatt tgtgtaataa gaaaattggg aaaacgatct
1261 tcaatatgct taccaagctg tgattccaaa tattacgtaa atacacttgc aaaggaggat
1321 gtttttagta gcaatttgta ctgatggtat ggggccaaga gatatatctt agagggaggg
1381 ctgagggttt gaagtccaac tcctaagcca gtgccagaag agccaaggac aggtacggct
1441 gtcatcactt agacctcacc ctgtggagcc acaccctagg gttggccaat ctactcccag
1501 gagcagggag ggcaggagcc agggctgggc ataaaagtca gggcagagcc atctattgct
1561 tacatttgct tctgacacaa ctgtgttcac tagcaacctc aaacagacac catggtgcac
1621 ctgactcctg aggagaagtc tgccgttact gccctgtggg gcaaggtgaa cgtggatgaa
1681 gttggtggtg aggccctggg caggttggta tcaaggttac aagacaggtt taaggagacc
1741 aatagaaact gggcatgtgg agacagagaa gactcttggg tttctgatag gcactgactc
1801 tctctgccta ttggtctatt ttcccaccct taggctgctg gtggtctacc cttggaccca
1861 gaggttcttt gagtcctttg gggatctgtc cactcctgat gctgttatgg gcaaccctaa
1921 ggtgaaggct catggcaaga aagtgctcgg tgcctttagt gatggcctgg ctcacctgga
1981 caacctcaag ggcacctttg ccacactgag tgagctgcac tgtgacaagc tgcacgtgga
2041 tcctgagaac ttcagggtga gtctatggga cccttgatgt tttctttccc cttcttttct
2101 atggttaagt tcatgtcata ggaaggggag aagtaacagg gtacagttta gaatgggaaa
2161 cagacgaatg attgcatcag tgtggaagtc tcaggatcgt tttagtttct tttatttgct
2221 gttcataaca attgttttct tttgtttaat tcttgctttc tttttttttc ttctccgcaa
2281 tttttactat tatacttaat gccttaacat tgtgtataac aaaaggaaat atctctgaga
2341 tacattaagt aacttaaaaa aaaactttac acagtctgcc tagtacatta ctatttggaa
2401 tatatgtgtg cttatttgca tattcataat ctccctactt tattttcttt tatttttaat
2461 tgatacataa tcattataca tatttatggg ttaaagtgta atgttttaat atgtgtacac
2521 atattgacca aatcagggta attttgcatt tgtaatttta aaaaatgctt tcttctttta
2581 atatactttt ttgtttatct tatttctaat actttcccta atctctttct ttcagggcaa
2641 taatgataca atgtatcatg cctctttgca ccattctaaa gaataacagt gataatttct
2701 gggttaaggc aatagcaata tttctgcata taaatatttc tgcatataaa ttgtaactga
2761 tgtaagaggt ttcatattgc taatagcagc tacaatccag ctaccattct gcttttattt
2821 tatggttggg ataaggctgg attattctga gtccaagcta ggcccttttg ctaatcatgt
2881 tcatacctct tatcttcctc ccacagctcc tgggcaacgt gctggtctgt gtgctggccc
2941 atcactttgg caaagaattc accccaccag tgcagccaca cctatcagtg gtgtggctaa
3001 tgccctggcc cacaagtatc actaagctcg ctttcttgct gtccaatttc tattaaaggt
3061 tcctttgttc cctaagtcca actactaaac tgggggatat tatgaagggc cttgagcatc
3121 tggattctgc ctaataaaaa acatttattt tcattgcaat gatgtattta aattatttct
3181 gaatatttta ctaaaaaggg aatgtgggag gtcagtgcat ttaaaacata aagaaatgaa
3241 gagctagttc aaaccttggg aaaatacact atatcttaaa ctccatgaaa gaaggtgagg
3301 ctgcaaacag ctaatgcaca ttggcaacag ccctgatgcc tatgccttat tcatccctca
3361 gaaaaggatt caagtagagg cttgatttgg aggttaaagt tttctatgct gtattttaca
3421 ttacttattg ttttagctgt cctcatgaat gtcttttcac tacccatttg cttatcctgc
3481 atctctcagc cttgactcca ctcagttctc ttgcttagag ataccacctt tcccctgaag
3541 tgttccttcc atgttttacg gcgagatggt ttctcctcgc ctggccactc agccttagtt
3601 gtctctgttg tcttatagag gtctacttga agaaggaaaa acagggggca cggtttgact
3661 gtcctgtgag cccttcttcc ctgcctcccc cactcacagt gac
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