GenBank-Updates@genbank.bio.net (08/25/90)
LOCUS HUMHBBAAZ 2149 bp ds-DNA PRI 25-AUG-1990
DEFINITION Human beta hemoglobin gene Azerbaidzhan beta-thalassemia mutant.
ACCESSION M36640
KEYWORDS beta-globin; beta-hemoglobin; hemoglobin.
SOURCE Human (Azerbaidzhan beta-thalassemia patient) DNA.
ORGANISM Homo sapiens
Eukaryota; Animalia; Metazoa; Chordata; Vertebrata; Mammalia;
Theria; Eutheria; Primates; Haplorhini; Catarrhini; Hominidae.
REFERENCE 1 (bases 1 to 2149)
AUTHORS Limborskaya,S.A., Bukhman,V.L., Prosnyak,M.I., Fedorov,A.N.,
Slominskii,P.A., Ninkina,N.N. and Ryskov,A.P.
TITLE Molecular causes of thalassemia: IV. Cloning of the beta-globin
gene of a beta-thalassemia patient from Azerbaidzhan and
determination of a point mutation in a minor intron
JOURNAL Genetika 23, 152-159 (1987)
STANDARD simple staff_entry
COMMENT The mutation at base pair 623 creates a supplementary splice
acceptor site for exon 2.
FEATURES from to/span description
pept 422 513 beta hemoglobin, exon 1
/hgml_locus_uid="LQ0007V" /nomgen="HBB"
/map="11p15.5"
644 866 beta hemoglobin, exon 2
1717 1845 beta hemoglobin, exon 3
pre-msg 372 1977 HBB mRNA and introns
IVS 514 643 HBB intron A
IVS 867 1716 HBB intron B
mut 623 623 a in thalassemia patient, g in wt
BASE COUNT 587 a 421 c 452 g 689 t
ORIGIN
1 agacaaaact cttccacttt tagtgcatca atttcttatt tgtgtaataa gaaaattggg
61 aaaacgatct tcaatatgct taccaagctg tgattccaaa tattacgtaa atacacttgc
121 aaaggaggat gtttttagta gcaatttgta ctgatggtat ggggccaaga gatatatctt
181 agagggaggg ctgagggttt gaagtccaac tcctaagcca gtgccagaag agccaaggac
241 aggtacggct gtcatcactt agacctcacc ctgtggagcc acaccctagg gttggccaat
301 ctactcccag gagcagggag ggcaggagcc agggctgggc atacaagtca gggcagagcc
361 atctattgct tacatttgct tctgacacaa ctgtgttcac tagcaacctc aaacagacac
421 catggtgcac ctgactcctg aggagaagtc tgccgttact gccctgtggg gcaaggtgaa
481 cgtggatgaa gttggtggtg aggccctggg caggttggta tcaaggttac aagacaggtt
541 taaggagacc aatagaaact gggcatgtgg agacagagaa gactcttggg tttctgatag
601 gcactgactc tctctgccta ttagtctatt ttcccaccct taggctgctg gtggtctacc
661 cttggaccca gaggttcttt gagtcctttg gggatctgtc cactcctgat gctgttatgg
721 gcaaccctaa ggtgaaggct catggcaaga aagtgctcgg tgcctttagt gatggcctgg
781 ctcacctgga caacctcaag ggcacctttg ccacactgag tgagctgcac tgtgacaagc
841 tgcacgtgga tcctgagaac ttcagggtga gtctatggga cccttgatgt tttctttccc
901 cttcttttct atggttaagt tcatgtcata ggaaggggag aagtaacagg gtacagttta
961 gaatgggaaa cagacgaatg attgcatcag tgtggaagtc tcaggatcgt tttagtttct
1021 tttatttgct gttcataaca attgttttct tttgtttaat tcttgctttc tttttttttc
1081 ttctccgcaa tttttactat tatacttaat gccttaacat tgtgtataac aaaaggaaat
1141 atctctgaga tacattaagt aacttaaaaa aaaactttac acagtctgcc tagtacatta
1201 ctatttggaa tatatgtgtg cttatttgca tattcataat ctccctactt tattttcttt
1261 tatttttaat tgatacataa tcattataca tatttatggg ttaaagtgta atgttttaat
1321 atgtgtacac atattgacca aatcagggta attttgcatt tgtaatttta aaaaatgctt
1381 tcttctttta atatactttt ttgtttatct tatttctaat actttcccta atctctttct
1441 ttcagggcaa taatgataca atgtatcatg cctctttgca ccattctaaa gaataacagt
1501 gataatttct gggttaaggc aatagcaata tttctgcata taaatatttc tgcatataaa
1561 ttgtaactga tgtaagaggt ttcatattgc taatagcagc tacaatccag ctaccattct
1621 gcttttattt tatggttggg ataaggctgg attattctga gtccaagcta ggcccttttg
1681 ctaatcatgt tcatacctct tatcttcctc ccacagctcc tgggcaacgt gctggtctgt
1741 gtgctggccc atcactttgg caaagaattc accccaccag tgcaggctgc ctatcagaaa
1801 gtggtggctg gtgtggctaa tgccctggcc cacaagtatc actaagctcg ctttcttgct
1861 gtccaatttc tattaaaggt tcctttgttc cctaagtcca actactaaac tgggggatat
1921 tatgaagggc cttgagcatc tggattctgc ctaataaaaa acatttattt tcattgcaat
1981 gatgtattta aattatttct gaatatttta ctaaaaaggg aatgtgggag gtcagtgcat
2041 ttaaaacata aagaaatgaa gagctagttc aaaccttggg aaaatacact atatcttaaa
2101 ctccatgaaa gaaggtgagg ctgcaaacag ctaatgcaca ttggcaaca
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