LOCUS HUMG6PDA 2167 bp mRNA linear HUM 08-NOV-1994 DEFINITION Human glucose-6-phosphate dehydrogenase variant A-, complete cds. ACCESSION M21248 J03231 VERSION M21248.1 KEYWORDS dehydrogenase; glucose-6-phosphate dehydrogenase. SOURCE Homo sapiens (human) ORGANISM Homo sapiens Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo. REFERENCE 1 (bases 1 to 2167) AUTHORS Hirono,A. and Beutler,E. JOURNAL Unpublished REFERENCE 2 (bases 538 to 675) AUTHORS Hirono,A. and Beutler,E. TITLE Molecular cloning and nucleotide sequence of cDNA for human glucose-6-phosphate dehydrogenase variant A(-) JOURNAL Proc. Natl. Acad. Sci. U.S.A. 85 (11), 3951-3954 (1988) PUBMED 2836867 COMMENT Original source text: Human black male Epstein-Barr virus-transformed lymphoblastoid cells, cDNA to mRNA, clone A-19. Draft entry and computer readable copy of sequence [2] kindly provided by A.Hirono (13-MAY-1988). FEATURES Location/Qualifiers source 1..2167 /db_xref="H-InvDB:HIT000194779" /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /map="Xq28" gene 1..2167 /gene="G6PD" CDS 15..1562 /gene="G6PD" /note="glucose-6-phosphate dehydrogenase variant A- (EC 1.1.1.49)" /codon_start=1 /protein_id="AAA52500.1" /db_xref="GDB:G00-120-621" /translation="MAEQVALSRTHVCGILREELFQGDAFHQSDTHIFIIMGASGDLA KKKIYPTIWWLFRDGLLPENTFIMGYARSRLTVADIRKQSEPFFKATPEEKLKLEDFF ARNSYVAGQYDDAASYQRLNSHMDALHLGSQANRLFYLALPPTVYEAVTKNIHESCMS QIGWNRIIVEKPFGRDLQSSDRLSNHISSLFREDQIYRIDHYLGKEMVQNLMVLRFAN RIFGPIWNRDNIACVILTFKEPFGTEGRGGYFDEFGIIRDVMQNHLLQMLCLVAMEKP ASTNSDDVRDEKVKVLKCISEVQANNVVLGQYVGNPDGEGEATKGYLDDPTVPRGSTT ATFAAVVLYVENERWDGVPFILRCGKALNERKAEVRLQFHDVAGDIFHQQCKRNELVI RVQPNEAVYTKMMTKKPGMFFNPEESELDLTYGNRYKNVKLPDAYERLILDVFCGSQM HFVRSDELREAWRIFTPLLHQIELEKPKPIPYIYGSRGPTEADELMKRVGFQYEGTYK WVNPHKL" variation 216 /gene="G6PD" /note="a in G6PD(-); g in G6PD(+)" variation 390 /gene="G6PD" /note="g in G6PD(-); a in G6PD(+)" BASE COUNT 457 a 717 c 604 g 389 t ORIGIN 17 bp upstream of NaqIII site; chromosome Xq28. 1 gcgcagacag cgtcatggca gagcaggtgg ccctgagccg gacccacgtg tgcgggatcc 61 tgcgggaaga gcttttccag ggcgatgcct tccatcagtc ggatacacac atattcatca 121 tcatgggtgc atcgggtgac ctggccaaga agaagatcta ccccaccatc tggtggctgt 181 tccgggatgg ccttctgccc gaaaacacct tcatcatggg ctatgcccgt tcccgcctca 241 cagtggctga catccgcaaa cagagtgagc ccttcttcaa ggccacccca gaggagaagc 301 tcaagctgga ggacttcttt gcccgcaact cctatgtggc tggccagtac gatgatgcag 361 cctcctacca gcgcctcaac agccacatgg atgccctcca cctggggtca caggccaacc 421 gcctcttcta cctggccttg cccccgaccg tctacgaggc cgtcaccaag aacattcacg 481 agtcctgcat gagccagata ggctggaacc gcatcatcgt ggagaagccc ttcgggaggg 541 acctgcagag ctctgaccgg ctgtccaacc acatctcctc cctgttccgt gaggaccaga 601 tctaccgcat cgaccactac ctgggcaagg agatggtgca gaacctcatg gtgctgagat 661 ttgccaacag gatcttcggc cccatctgga accgggacaa catcgcctgc gttatcctca 721 ccttcaagga gccctttggc actgagggtc gcgggggcta tttcgatgaa tttgggatca 781 tccgggacgt gatgcagaac cacctactgc agatgctgtg tctggtggcc atggagaagc 841 ccgcctccac caactcagat gacgtccgtg atgagaaggt caaggtgttg aaatgcatct 901 cagaggtgca ggccaacaat gtggtcctgg gccagtacgt ggggaacccc gatggagagg 961 gcgaggccac caaagggtac ctggacgacc ccacggtgcc ccgcgggtcc accaccgcca 1021 cttttgcagc cgtcgtcctc tatgtggaga atgagaggtg ggatggggtg cccttcatcc 1081 tgcgctgcgg caaggccctg aacgagcgca aggccgaggt gaggctgcag ttccatgatg 1141 tggccggcga catcttccac cagcagtgca agcgcaacga gctggtgatc cgcgtgcagc 1201 ccaacgaggc cgtgtacacc aagatgatga ccaagaagcc gggcatgttc ttcaaccccg 1261 aggagtcgga gctggacctg acctacggca acagatacaa gaacgtgaag ctccctgacg 1321 cctacgagcg cctcatcctg gacgtcttct gcgggagcca gatgcacttc gtgcgcagcg 1381 acgagctccg tgaggcctgg cgtattttca ccccactgct gcaccagatt gagctggaga 1441 agcccaagcc catcccctat atttatggca gccgaggccc cacggaggca gacgagctga 1501 tgaagagagt gggtttccag tatgagggca cctacaagtg ggtgaacccc cacaagctct 1561 gagccctggg cacccacctc cacccccgcc acggccaccc tccttcccgc cgcccgaccc 1621 cgagtcggga ggactccggg accattgacc tcagctgcac attcctggcc ccgggctctg 1681 gccacctggc cgcccctcgc tgctgctact acccgagccc agctacattc ctcagctgcc 1741 aagcactcga gaccatcttg gcccctccag accctgcctg agcctaggag cttgagtcac 1801 ctcctccact cactccagcc caacagaagg aaggaggagg gcgcccattc gtctgtccca 1861 gagcttattg gccactgggt ctcgctccga gtggggccag ggtgggaggg agggtcaggg 1921 ggaggaaagg ggcgagcacc cacgtgagag aatctgcctg tggccttgcc cgccagcctc 1981 agtgccactt gacattcctt gtcaccagca acatctcgag ccccctggat gtcccctgtc 2041 ccaccaactc tgcactccat ggccaccccg tgccacccgt aggcagcctc tctgctataa 2101 gaaaagcaga cgcagcagct gggacccctc ccaacctcaa tgccctgcca ttaaatccgc 2161 aaacagc //