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RL   Unpublished.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.
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="IMGT/HLA:A*30:14L"
FT                   /db_xref="InterPro:IPR001039"
FT                   /db_xref="InterPro:IPR011161"
FT                   /db_xref="InterPro:IPR011162"
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
//