LOCUS X60491 818 bp mRNA linear HUM 19-JUL-1994 DEFINITION Human mRNA for CD3-gamma, start codon mutation associated with T-cell receptor immunodeficiency. ACCESSION X60491 VERSION X60491.1 KEYWORDS CD3 protein; signal transduction. 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 818) AUTHORS Arnaiz-Villena A. JOURNAL Submitted (16-JUL-1991) to the INSDC. A. Arnaiz-Villena, Immunology Hospital, 12 Rueb de Octubre, CTRA Andalucia Km 5.4, 28041 Madrid, Spain REFERENCE 2 AUTHORS Arnaiz-Villena A., Timon M., Corell A., Perez-Aciego P., Martin-Villa J.M., Regueiro J.R. TITLE Brief report: primary immunodeficiency caused by mutations in the gene encoding the CD3-gamma subunit of the T-lymphocyte receptor JOURNAL N. Engl. J. Med. 327(8), 529-533(1992). PUBMED 1635567 FEATURES Location/Qualifiers source 1..818 /db_xref="H-InvDB:HIT000322404" /organism="Homo sapiens" /chromosome="11" /map="11q23" /isolate="patient III-2" /mol_type="mRNA" /cell_type="T-cell line" /db_xref="taxon:9606" mRNA 1..818 /gene="CD3-gamma" /note="start codon mutation" /experiment="experimental evidence, no additional details recorded" BASE COUNT 194 a 193 c 177 g 254 t ORIGIN 1 ttttccccaa taggtggcgc ttctgaaaca cagtatttgt ttttattttt attttatttg 61 agaaaccccc aaatttgctc tgatggcctt tcttctccat ttgtcatctc tgggaacctt 121 gagtctagat ttagggctga aagtctctct gctaggagct ttccaaaatg cattgctttg 181 attctgggaa ctgaatagga ggagaacacc tggactactc tgagtcctga gttcaattcc 241 tcctcaactg gtttccttga aggtggctgt actggtcatc ttctcgatcc ttgaggggct 301 ggtagagctg gtcattgggc aacagagtct gcttgtctga agctctcgac tggcgaactc 361 catcctgtcc agcaatgaag tagaccccaa cagcaaggac gaaaatgctg acgatttcag 421 caaagagaaa gccagatatg gtggctgcat ttagttcaat gcagttctga cacattctgt 481 aatacacttg gagtggtttt gacttgttct gtgatccttt acactgatac atccctcgag 541 ggtccttggc attacttccc agattccatt tttttttatc ttcagttagg aagccgatca 601 tcttcccatc tttaaaccat gtgatatttt tggcttctgc atcacaagtc agaagtaccg 661 aaccatcttc ttgatagtca tacaccttaa ccaagtggtt tcctttgatt gactgggcca 721 aagtaccttg aagaagaatg atagccagga tgaggacagc caggcccttc ccctgttcca 781 cgtcagtctc tgtctccggc aaaagcgtgg agcagccc //