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EBI Dbfetch

ID   AM041068; SV 1; linear; genomic DNA; STD; HUM; 1777 BP.
XX
AC   AM041068;
XX
DT   06-JUL-2005 (Rel. 84, Created)
DT   17-JUN-2008 (Rel. 96, Last updated, Version 3)
XX
DE   Homo sapiens partial HLA-A gene for truncated MHC class I antigen,
DE   HLA-A*03010102N allele, exons 2-4, isolate 10711570
XX
KW   HLA-A gene; HLA-A*03010102N allele; human leucocyte antigen A;
KW   major histocompatability complex; MHC class I antigen.
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   1-1777
RA   Hammond L.;
RT   ;
RL   Submitted (30-JUN-2005) to the INSDC.
RL   Hammond L., Molecular Genetics, Welsh Transplant & Immunogentics Lab, Ely
RL   Valley Road, Pontyclun, Talbot Green, CF72 9WB, UNITED KINGDOM.
XX
RN   [2]
RA   Hammond L., Street J., Darke C.;
RT   "Characterisation of HLA class I expression variants identified by
RT   discrepancies between molecular and serological techniques";
RL   Unpublished.
XX
DR   MD5; 22f32fee44a2d1145cd6cfc352e57b35.
XX
FH   Key             Location/Qualifiers
FH
FT   source          1..1777
FT                   /organism="Homo sapiens"
FT                   /chromosome="6"
FT                   /isolate="10711570"
FT                   /mol_type="genomic DNA"
FT                   /tissue_type="peripheral blood"
FT                   /db_xref="taxon:9606"
FT   CDS             join(<48..317,559..834,1413..1753)
FT                   /codon_start=3
FT                   /gene="HLA-A"
FT                   /allele="HLA-A*03010102N"
FT                   /product="truncated MHC class I antigen"
FT                   /function="antigen presenting molecule"
FT                   /note="SNP results in inhibition of splicing and premature
FT                   stop within intron 4"
FT                   /db_xref="IMGT/HLA:A*03:01:01:02N"
FT                   /protein_id="CAJ14959.1"
FT                   /translation="SHSMRYFFTSVSRPGRGEPRFIAVGYVDDTQFVRFDSDAASQRME
FT                   PRAPWIEQEGPEYWDQETRNVKAQSQTDRVDLGTLRGYYNQSEAGSHTIQIMYGCDVGS
FT                   DGRFLRGYRQDAYDGKDYIALNEDLRSWTAADMAAQITKRKWEAAHEAEQLRAYLDGTC
FT                   VEWLRRYLENGKETLQRTDPPKTHMTHHPISDHEATLRCWALGFYPAEITLTWQRDGED
FT                   QTQDTELVETRPAGDGTFQKWAAVVVPSGEEQRYTCHVQHEGLPKPLTLRWDKEGDGGV
FT                   MSLRESRSLSGDL"
FT   exon            48..317
FT                   /gene="HLA-A"
FT                   /allele="HLA-A*03010102N"
FT                   /number=2
FT   intron          318..558
FT                   /gene="HLA-A"
FT                   /allele="HLA-A*03010102N"
FT                   /number=2
FT   exon            559..834
FT                   /gene="HLA-A"
FT                   /allele="HLA-A*03010102N"
FT                   /number=3
FT   intron          835..1412
FT                   /gene="HLA-A"
FT                   /allele="HLA-A*03010102N"
FT                   /number=3
FT   variation       1413
FT                   /replace="g"
FT   exon            1413..1688
FT                   /gene="HLA-A"
FT                   /allele="HLA-A*03010102N"
FT                   /number=4
XX
SQ   Sequence 1777 BP; 339 A; 541 C; 575 G; 322 T; 0 other;
     gcgccgggac gagggtcggg caggtctcag ccactgctcg cccccaggct cccactccat        60
     gaggtatttc ttcacatccg tgtcccggcc cggccgcggg gagccccgct tcatcgccgt       120
     gggctacgtg gacgacacgc agttcgtgcg gttcgacagc gacgccgcga gccagaggat       180
     ggagccgcgg gcgccgtgga tagagcagga ggggccggag tattgggacc aggagacacg       240
     gaatgtgaag gcccagtcac agactgaccg agtggacctg gggaccctgc gcggctacta       300
     caaccagagc gaggccggtg agtgaccccg gccgggggcg caggtcagga cccctcatcc       360
     cccacggacg ggccaggtcg cccacagtct ccgggtccga gatccacccc gaagccgcgg       420
     gaccccgaga cccttgcccc gggagaggcc caggcgcctt tacccggttt cattttcagt       480
     ttaggccaaa aatccccccg ggttggtcgg ggctgggcgg ggctcggggg actgggctga       540
     ccgcggggtc ggggccaggt tctcacacca tccagataat gtatggctgc gacgtggggt       600
     cggacgggcg cttcctccgc gggtaccggc aggacgccta cgacggcaag gattacatcg       660
     ccctgaacga ggacctgcgc tcttggaccg cggcggacat ggcggctcag atcaccaagc       720
     gcaagtggga ggcggcccat gaggcggagc agttgagagc ctacctggat ggcacgtgcg       780
     tggagtggct ccgcagatac ctggagaacg ggaaggagac gctgcagcgc acgggtacca       840
     ggggccacgg ggcgcctccc tgatcgcctg tagatctccc gggctggcct cccacaagga       900
     ggggagacaa ttgggaccaa cactagaata tcaccctccc tctggtcctg agggagagga       960
     atcctcctgg gttccagatc ctgtaccaga gagtgactct gaggttccgc cctgctctct      1020
     gacacaatta agggataaaa tctctgaagg agtgacggga agacgatccc tcgaatactg      1080
     atgagtggtt ccctttgaca ccggcagcag ccttgggccc gtgacttttc ctctcaggcc      1140
     ttgttctctg cttcacactc aatgtgtgtg ggggtctgag tccagcactt ctgagtccct      1200
     cagcctccac tcaggtcagg accagaagtc gctgttccct tctcagggaa tagaagatta      1260
     tcccaggtgc ctgtgtccag gctggtgtct gggttctgtg ctctcttccc catcccgggt      1320
     gtcctgtcca ttctcaagat ggccacatgc gtgctggtgg agtgtcccat gacagatgca      1380
     aaatgcctga attttctgac tcttcccgtc agaccccccc aagacacata tgacccacca      1440
     ccccatctct gaccatgagg ccaccctgag gtgctgggcc ctgggcttct accctgcgga      1500
     gatcacactg acctggcagc gggatgggga ggaccagacc caggacacgg agctcgtgga      1560
     gaccaggcct gcaggggatg gaaccttcca gaagtgggcg gctgtggtgg tgccttctgg      1620
     agaggagcag agatacacct gccatgtgca gcatgagggt ctgcccaagc ccctcaccct      1680
     gagatgggat aaggagggag atgggggtgt catgtctctt agggaaagca ggagcctctc      1740
     tggagacctt tagcagggtc agggcccctc accttcc                               1777
//


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