Dbfetch
ID AY323229; SV 1; linear; genomic DNA; STD; HUM; 787 BP. XX AC AY323229; XX DT 21-JUL-2003 (Rel. 76, Created) DT 17-JUN-2008 (Rel. 96, Last updated, Version 5) XX DE Homo sapiens MHC class I antigen (HLA-A) gene, HLA-A*30 null variant DE allele, exons 2 and 3 and partial cds. XX KW . XX OS Homo sapiens (human) OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; OC Homo. XX RN [1] RP 1-787 RX DOI; 10.1016/j.humimm.2006.04.010. RX PUBMED; 16916654. RA Hirv K., Pannicke U., Mytilineos J., Schwarz K.; RT "Disulfide bridge disruption in the alpha2 domain of the HLA class I RT molecule leads to low expression of the corresponding antigen"; RL Hum. Immunol. 67(8):589-596(2006). XX RN [2] RP 1-787 RA Hirv K., Kersten T., Schwarz K.; RT "Characterization of a new HLA-A null allele by direct sequencing"; RL Unpublished. XX RN [3] RP 1-787 RA Hirv K., Kersten T., Schwarz K.; RT ; RL Submitted (13-JUN-2003) to the INSDC. RL Transplantation Immunology, IKT gGmbH, Helmholtzstrasse 10, Ulm 89081, RL Germany XX DR MD5; 4d4c813571e7aee3f5ed566b2e5b4f7b. DR IMGT/HLA; HLA-A*30:14L; HLA02116. XX FH Key Location/Qualifiers FH FT source 1..787 FT /organism="Homo sapiens" FT /chromosome="6" FT /map="6p21.3" FT /mol_type="genomic DNA" FT /db_xref="taxon:9606" FT gene <1..>787 FT /gene="HLA-A" FT /allele="HLA-A*30 null variant" FT mRNA join(<1..270,512..>787) FT /gene="HLA-A" FT /allele="HLA-A*30 null variant" FT /product="MHC class I antigen" FT CDS join(<1..270,512..>787) FT /codon_start=3 FT /gene="HLA-A" FT /allele="HLA-A*30 null variant" FT /product="MHC class I antigen" FT /note="not expressed on cell surface due to improper FT folding caused by mutation" FT /db_xref="InterPro:IPR001039" FT /db_xref="InterPro:IPR011161" FT /db_xref="InterPro:IPR011162" FT /db_xref="InterPro:IPR037055" FT /db_xref="UniProtKB/TrEMBL:Q7YP76" FT /protein_id="AAP88042.1" FT /translation="SHSMRYFSTSVSRPGSGEPRFIAVGYVDDTQFVRFDSDAASQRME FT PRAPWIEQERPEYWDQETRNVKAQSQTDRVDLGTLRGYYNQSEAGSHTIQIMYGCDVGS FT DGRFLRGYEQHAYDGKDYIALNEDLRSWTAADMAAQITQRKWEAARWAEQLRAYLEGTS FT VEWLRRYLENGKETLQRT" FT exon 1..270 FT /gene="HLA-A" FT /allele="HLA-A*30 null variant" FT /number=2 FT exon 512..787 FT /gene="HLA-A" FT /allele="HLA-A*30 null variant" FT /number=3 XX SQ Sequence 787 BP; 147 A; 244 C; 280 G; 116 T; 0 other; gctcccactc catgaggtat ttctccacat ccgtgtcccg gcccggcagt ggagagcccc 60 gcttcatcgc agtgggctac gtggacgaca cgcagttcgt gcggttcgac agcgacgccg 120 cgagccagag gatggagccg cgggcgccgt ggatagagca ggagaggcct gagtattggg 180 accaggagac acggaatgtg aaggcccagt cacagactga ccgagtggac ctggggaccc 240 tgcgcggcta ctacaaccag agcgaggccg gtgagtgacc ccggccgggg gcgcaggtca 300 cgacccctca tcccccacgg acgggccagg tcgcccacag tctccgggtc cgagatccac 360 cccgaagccg cgggaccccg agacccttga cccgggagag gcccaggcgc ctttacccgg 420 tttcattttc agtttaggcc aaaaattccc ccgggttggt cggggctggg cggggctcgg 480 gggactgggc tgaccgcggg gtcggggcca ggttctcaca ccatccagat aatgtatggc 540 tgcgacgtgg ggtcggacgg gcgcttcctc cgcgggtatg aacagcacgc ctacgacggc 600 aaggattaca tcgccctgaa cgaggacctg cgctcttgga ccgcggcgga catggcggct 660 cagatcaccc agcgcaagtg ggaggcggcc cgttgggcgg agcagttgag agcctacctg 720 gagggcacgt ccgtggagtg gctccgcaga tacctggaga acgggaagga gacgctgcag 780 cgcacgg 787 //