LOCUS AY039664 1018 bp mRNA linear HUM 17-JUL-2001 DEFINITION Homo sapiens mutant CD8 alpha antigen (CD8A) mRNA, complete cds. ACCESSION AY039664 VERSION AY039664.1 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 1018) AUTHORS de la Calle-Martin,O., Hernandez,M., Ordi,J., Casamitjana,N., Arostegui,J.I., Caragol,I., Ferrando,M., Labrador,M., Rodriguez-Sanchez,J.L. and Espanol,T. TITLE Familial CD8 deficiency due to a mutation in the CD8 alpha gene JOURNAL J. Clin. Invest. 108 (1), 117-123 (2001) PUBMED 11435463 REFERENCE 2 (bases 1 to 1018) AUTHORS Casamitjana,N., Arostegui,J.I. and de la Calle,O. TITLE Direct Submission JOURNAL Submitted (12-JUN-2001) Immunohematology, Centre de Transfusio i Banc de Teixits, Pg. de la Vall d'Hebron 119-129, Barcelona 08035, Spain FEATURES Location/Qualifiers source 1..1018 /db_xref="H-InvDB:HIT000083591" /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="2" gene 1..1018 /gene="CD8A" CDS 180..887 /gene="CD8A" /codon_start=1 /product="mutant CD8 alpha antigen" /protein_id="AAK72403.1" /translation="MALPVTALLLPLALLLHAARPSQFRVSPLDRTWNLGETVELKCQ VLLSNPTSGCSWLFQPRGAAASPTFLLYLSQNKPKAAEGLDTQRFSGKRLGDTFVLTL SDFRRENESYYFCSALSNSIMYFSHFVPVFLPAKPTTTPAPRPPTPAPTIASQPLSLR PEACRPAAGGAVHTRGLDFACDIYIWAPLAGTCGVLLLSLVITLYCNHRNRRRVCKCP RPVVKSGDKPSLSARYV" variation 510 /gene="CD8A" /note="results in Gly to Ser substitution" /replace="g" BASE COUNT 173 a 359 c 284 g 202 t ORIGIN 1 cgaaaaggag ggtgactctc ctcggcgggg gcttcgggtg acatcacatc ctccaaatgc 61 gaaatcaggc tccgggccgg ccgaagggcg caactttccc ccctcggcgc cccaccggct 121 cccgcgcgcc tcccctcgcg cccgagcttc gagccaagca gcgtcctggg gagcgcgtca 181 tggccttacc agtgaccgcc ttgctcctgc cgctggcctt gctgctccac gccgccaggc 241 cgagccagtt ccgggtgtcg ccgctggatc ggacctggaa cctgggcgag acagtggagc 301 tgaagtgcca ggtgctgctg tccaacccga cgtcgggctg ctcgtggctc ttccagccgc 361 gcggcgccgc cgccagtccc accttcctcc tatacctctc ccaaaacaag cccaaggcgg 421 ccgaggggct ggacacccag cggttctcgg gcaagaggtt gggggacacc ttcgtcctca 481 ccctgagcga cttccgccga gagaacgaga gctactattt ctgctcggcc ctgagcaact 541 ccatcatgta cttcagccac ttcgtgccgg tcttcctgcc agcgaagccc accacgacgc 601 cagcgccgcg accaccaaca ccggcgccca ccatcgcgtc gcagcccctg tccctgcgcc 661 cagaggcgtg ccggccagcg gcggggggcg cagtgcacac gagggggctg gacttcgcct 721 gtgatatcta catctgggcg cccctggccg ggacttgtgg ggtccttctc ctgtcactgg 781 ttatcaccct ttactgcaac cacaggaacc gaagacgtgt ttgcaaatgt ccccggcctg 841 tggtcaaatc gggagacaag cccagccttt cggcgagata cgtctaaccc tgtgcaacag 901 ccactacatt acttcaaact gagatccttc cttttgaggg agcaagtcct tccctttcat 961 tttttccagt cttcctccct gtgtattcat tctcatgatt attattttag tgggggcg //