GenBank-Updates@genbank.bio.net (05/27/91)
LOCUS HUMGL04 834 bp ds-DNA PRI 27-MAY-1991
DEFINITION Human gene encoding alpha-2-globin. Location of mutation for
alpha-thalassemia is given.
ACCESSION V00516
KEYWORDS alpha-globin; globin.
SOURCE Homo sapiens DNA.
ORGANISM Homo sapiens
Eukaryota; Animalia; Metazoa; Chordata; Vertebrata; Mammalia;
Theria; Eutheria; Primates; Haplorhini; Catarrhini; Hominidae.
REFERENCE 1 (bases 1 to 834)
AUTHORS Orkin,S.H., Goff,S.C. and Hechtman,R.L.
TITLE Mutation in an intervening sequence splice junction in man
JOURNAL Proc. Natl. Acad. Sci. U.S.A. 78, 5041-5045 (1981)
STANDARD full automatic
COMMENT From EMBL entry HSGL04; dated 03-JAN-1991.
FEATURES Location/Qualifiers
CDS join(41..132,250..454,597..722)
/product="alpha-2-globin"
/codon_start=41
intron 133..149
/note="intron I"
mutation 133..133
/note="G is GTGAGG in alpha-thalassemia"
intron 455..596
/note="intron II"
BASE COUNT 131 a 317 c 243 g 143 t
ORIGIN
1 actcttctgg tccccacaga ctcagagaga acccaccatg gtgctgtctc ctgccgacaa
61 gaccaacgtc aaggccgcct ggggtaaggt cggcgcgcac gctggcgagt atggtgcgga
121 ggccctggag aggtgaggct ccctcccctg ctccgacccg ggctcctcgc ccgcccggac
181 ccacaggcca ccctcaaccg tcctggcccc ggacccaaac cccacccctc actctgcttc
241 tccccgcagg atgttcctgt ccttccccac caccaagacc tacttcccgc acttcgacct
301 gagccacggc tctgcccagg ttaagggcca cggcaagaag gtggccgacg cgctgaccaa
361 cgccgtggcg cacgtggacg acatgcccaa cgcgctgtcc gccctgagcg acctgcacgc
421 gcacaagctt cgggtggacc cggtcaactt caaggtgagc ggcgggccgg gagcgatctg
481 ggtcgagggg cgagatggcg ccttcctctc agggcagagg atcacgcggg ttgcgggagg
541 tgtagcgcag gcggcggctg cgggcctggg ccgcactgac cctcttctct gcacagctcc
601 taagccactg cctgctggtg accctggccg cccacctccc cgccgagttc acccctgcgg
661 tgcacgcctc cctggacaag ttcctggctt ctgtgagcac cgtgctgacc tccaaatacc
721 gttaagctgg agcctcggta gccgttcctc ctgcccgctg ggcctcccaa cgggccctcc
781 tcccctcctt gcaccggccc ttcctggtct ttgaataaag tctgagtggg cggc
//