LOCUS AF349571 491 bp mRNA linear HUM 17-APR-2001 DEFINITION Homo sapiens hemoglobin alpha-1 globin chain (HBA1) mRNA, complete cds. ACCESSION AF349571 VERSION AF349571.1 KEYWORDS . 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 491) AUTHORS Kutlar,F., Holley,L., Leithner,C. and Kutlar,A. TITLE An alpha chain variant 'Hemoglobin J-Toronto (Cd.5 /Ala to Asp)' mutation was detected on the alpha-1 globin mRNA by sequencing of cDNA JOURNAL Unpublished REFERENCE 2 (bases 1 to 491) AUTHORS Kutlar,F., Holley,L., Leithner,C. and Kutlar,A. TITLE Direct Submission JOURNAL Submitted (15-FEB-2001) Medicine/Hemoglobin DNA Laboratory, Medical College of Georgia, 15th Street, AC-1000, Augusta, GA 30912, USA FEATURES Location/Qualifiers source 1..491 /db_xref="H-InvDB:HIT000078193_02" /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="16" /map="16pter-p13.3" /cell_type="reticulocytes" /tissue_type="whole blood" /note="obtained from a patient with abnormal hemoglobin" gene 1..491 /gene="HBA1" CDS 26..454 /gene="HBA1" /codon_start=1 /product="hemoglobin alpha-1 globin chain" /protein_id="AAK37554.1" /translation="MVLSPDDKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYF PHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLL SHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR" variation 42 /gene="HBA1" /note="heterozygous mutation; results in Asp to Ala substitution" /replace="c" BASE COUNT 89 a 178 c 138 g 86 t ORIGIN 1 cccacagact cagagagaac ccaccatggt gctgtctcct gacgacaaga ccaacgtcaa 61 ggccgcctgg ggtaaggtcg gcgcgcacgc tggcgagtat ggtgcggagg ccctggagag 121 gatgttcctg tccttcccca ccaccaagac ctacttcccg cacttcgacc tgagccacgg 181 ctctgcccag gttaagggcc acggcaagaa ggtggccgac gcgctgacca acgccgtggc 241 gcacgtggac gacatgccca acgcgctgtc cgccctgagc gacctgcacg cgcacaagct 301 tcgggtggac ccggtcaact tcaagctcct aagccactgc ctgctggtga ccctggccgc 361 ccacctcccc gccgagttca cccctgcggt gcacgcctcc ctggacaagt tcctggcttc 421 tgtgagcacc gtgctgacct ccaaataccg ttaagctgga gcctcggtgg ccatgcttct 481 tgcccctttg g //