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EBI Dbfetch

ID   AM040978; SV 1; linear; genomic DNA; STD; HUM; 2985 BP.
XX
AC   AM040978;
XX
DT   16-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, HLA-A*01
DE   null allele, exons 1-8
XX
KW   HLA-A gene; HLA-A*01 allele; major histocompatibility complex;
KW   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   1-2985
RA   Hammond L.;
RT   ;
RL   Submitted (26-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 serology and molecular techniques";
RL   Unpublished.
XX
DR   MD5; 10150ad21301a29f92e1521530fdd3f5.
XX
FH   Key             Location/Qualifiers
FH
FT   source          1..2985
FT                   /organism="Homo sapiens"
FT                   /chromosome="6"
FT                   /isolate="42989"
FT                   /mol_type="genomic DNA"
FT                   /cell_type="mixed leucocytes and platelets"
FT                   /tissue_type="peripheral blood"
FT                   /note="buffy coat preparation"
FT                   /db_xref="taxon:9606"
FT   mRNA            join(<22..94,225..494,736..1175,1592..1867,1970..2086,
FT                   2529..2561,2703..2751,2921..2925)
FT                   /gene="HLA-A"
FT                   /allele="HLA-A*01 null"
FT   CDS             join(22..94,225..494,736..1175)
FT                   /codon_start=1
FT                   /gene="HLA-A"
FT                   /allele="HLA-A*01 null"
FT                   /product="truncated MHC class I antigen"
FT                   /function="antigen presenting molecule"
FT                   /note="Truncated due to frameshift in exon 3 923..925"
FT                   /db_xref="IMGT/HLA:A*01:16N"
FT                   /protein_id="CAJ13857.1"
FT                   /translation="MAVMAPRTLLLLLSGALALTQTWAGSHSMRYFFTSVSRPGRGEPR
FT                   FIAVGYVDDTQFVRFDSDAASQKMEPRAPWIEQEGPEYWDQETRNMKAHSQTDRANLGT
FT                   LRGYYNQSEDGSHTIQIMYGCDVGPDGRFLRGYRQDAYDGKDYIALNEDLRSWTAADMA
FT                   AQITKRKWEAVHAAGAAESLPGGPVRGRAPQIPGEREGDAAAHGYQGPRGASLIAYRSP
FT                   GLASHKEGRQLGPTLEYHPPSGPEGEESSWVSRSCTRE"
FT   exon            <22..94
FT                   /gene="HLA-A"
FT                   /allele="HLA-A*01 null"
FT                   /number=1
FT   intron          95..224
FT                   /gene="HLA-A"
FT                   /allele="HLA-A*01 null"
FT                   /number=1
FT   exon            225..494
FT                   /gene="HLA-A"
FT                   /allele="HLA-A*01 null"
FT                   /number=2
FT   intron          495..735
FT                   /gene="HLA-A"
FT                   /allele="HLA-A*01 null"
FT                   /number=2
FT   exon            736..1175
FT                   /gene="HLA-A"
FT                   /allele="HLA-A*01 null"
FT                   /number=3
FT   variation       923..925
FT                   /allele="HLA-A*01"
FT                   /replace="gg"
FT                   /compare=AJ278305.1
FT   intron          1176..1591
FT                   /gene="HLA-A"
FT                   /allele="HLA-A*01 null"
FT                   /number=3
FT   exon            1592..1867
FT                   /gene="HLA-A"
FT                   /allele="HLA-A*01 null"
FT                   /number=4
FT   intron          1868..1969
FT                   /gene="HLA-A"
FT                   /allele="HLA-A*01 null"
FT                   /number=4
FT   exon            1970..2086
FT                   /gene="HLA-A"
FT                   /allele="HLA-A*01 null"
FT                   /number=5
FT   intron          2087..2528
FT                   /gene="HLA-A"
FT                   /allele="HLA-A*01 null"
FT                   /number=5
FT   exon            2529..2561
FT                   /gene="HLA-A"
FT                   /allele="HLA-A*01 null"
FT                   /number=6
FT   intron          2562..2702
FT                   /gene="HLA-A"
FT                   /allele="HLA-A*01 null"
FT                   /number=6
FT   exon            2703..2751
FT                   /gene="HLA-A"
FT                   /allele="HLA-A*01 null"
FT                   /number=7
FT   intron          2752..2920
FT                   /gene="HLA-A"
FT                   /allele="HLA-A*01 null"
FT                   /number=7
FT   exon            2921..2925
FT                   /gene="HLA-A"
FT                   /allele="HLA-A*01 null"
FT                   /number=8
XX
SQ   Sequence 2985 BP; 571 A; 851 C; 936 G; 627 T; 0 other;
     gattctcccc agacgccgag gatggccgtc atggcgcccc gaaccctcct cctgctactc        60
     tcgggggccc tggccctgac ccagacctgg gcgggtgagt gcggggtcgg gagggaaacc       120
     gcctctgcgg ggagaagcaa ggggccctcc tggcgggggc gcaggaccgg gggagccgcg       180
     ccgggaggag ggtcgggcag gtctcagcca ctgctcgccc ccaggctccc actccatgag       240
     gtatttcttc acatccgtgt cccggcccgg ccgcggggag ccccgcttca tcgccgtggg       300
     ctacgtggac gacacgcagt tcgtgcggtt cgacagcgac gccgcgagcc agaagatgga       360
     gccgcgggcg ccgtggatag agcaggaggg gccggagtat tgggaccagg agacacggaa       420
     tatgaaggcc cactcacaga ctgaccgagc gaacctgggg accctgcgcg gctactacaa       480
     ccagagcgag gacggtgagt gaccccggcc cggggcgcag gtcacgaccc ctcatccccc       540
     acggacgggc caggtcgccc acagtctccg ggtccgagat ccaccccgaa gccgcgggac       600
     tccgagaccc ttgtcccggg agaggcccag gcgcctttac ccggtttcat tttcagttta       660
     ggccaaaaat ccccccgggt tggtcggggc ggggcggggc tcgggggact gggctgaccg       720
     cggggtcggg gccaggttct cacaccatcc agataatgta tggctgcgac gtggggccgg       780
     acgggcgctt cctccgcggg taccggcagg acgcctacga cggcaaggat tacatcgccc       840
     tgaacgagga cctgcgctct tggaccgcgg cggacatggc agctcagatc accaagcgca       900
     agtgggaggc ggtccatgcg gcgggagcag cggagagtct acctggaggg ccggtgcgtg       960
     gacgggctcc gcagatacct ggagaacggg aaggagacgc tgcagcgcac gggtaccagg      1020
     ggccacgggg cgcctccctg atcgcctata gatctcccgg gctggcctcc cacaaggagg      1080
     ggagacaatt gggaccaaca ctagaatatc accctccctc tggtcctgag ggagaggaat      1140
     cctcctgggt ttccagatcc tgtaccagag agtgactctg aggttccgcc ctgctctctg      1200
     acacaattaa gggataaaat ctctgaagga gtgacgggaa gacgatccct cgaatactga      1260
     tgagtggttc cctttgacac cggcagcagc cttgggcccg tgacttttcc tctcaggcct      1320
     tgttctctgc ttcacactca atgtgtgtgg gggtctgagt ccagcacttc tgagtctctc      1380
     agcctccact caggtcagga ccagaagtcg ctgttccctt ctcagggaat agaagattat      1440
     cccaggtgcc tgtgtccagg ctggtgtctg ggttctgtgc tctcttcccc atcccgggtg      1500
     tcctgtccat tctcaagatg gccacatgcg tgctggtgga gtgtcccatg acagatgcaa      1560
     aatgcctgaa ttttctgact cttcccgtca gaccccccca agacacatat gacccaccac      1620
     cccatctctg accatgaggc caccctgagg tgctgggccc tgggcttcta ccctgcggag      1680
     atcacactga cctggcagcg ggatggggag gaccagaccc aggacacgga gctcgtggag      1740
     accaggcctg caggggatgg aaccttccag aagtgggcgg ctgtggtggt gccttctgga      1800
     gaggagcaga gatacacctg ccatgtgcag catgagggtc tgcccaagcc cctcaccctg      1860
     agatggggta aggagggaga tgggggtgtc atgtctctta gggaaagcag gagcctctct      1920
     ggagaccttt agcagggtca gggcccctca ccttcccctc ttttcccaga gctgtcttcc      1980
     cagcccacca tccccatcgt gggcatcatt gctggcctgg ttctccttgg agctgtgatc      2040
     actggagctg tggtcgctgc cgtgatgtgg aggaggaaga gctcaggtgg agaaggggtg      2100
     aagggtgggg tctgagattt cttgtctcac tgagggttcc aagccccagc tagaaatgtg      2160
     ccctgtctca ttactgggaa gcaccttcca caatcatggg ccgacccagc ctgggccctg      2220
     tgtgccagca cttactcttt tgtaaagcac ctgttaaaat gaaggacaga tttatcacct      2280
     tgattacggc ggtgatggga cctgatccca gcagtcacaa gtcacagggg aaggtccctg      2340
     aggacagacc tcaggagggc tattggtcca ggacccacac ctgctttctt catgtttcct      2400
     gatcccgccc tgggtctgca gtcacacatt tctggaaact tctctggggt ccaagactag      2460
     gaggttcctc taggacctta aggccctggc tcctttctgg tatctcacag gacattttct      2520
     tcccacagat agaaaaggag ggagttacac tcaggctgca agtaagtatg aaggaggctg      2580
     atgcctgagg tccttgggat attgtgtttg ggagcccatg ggggagctca cccaccccac      2640
     aattcctcct ctagccacat cttctgtggg atctgaccag gttctgtttt tgttctaccc      2700
     caggcagtga cagtgcccag ggctctgatg tgtctctcac agcttgtaaa ggtgagagct      2760
     tggagggcct gatgtgtgtt gggtgttggg tggaacagtg gacacagctg tgctatgggg      2820
     tttctttgcg ttggatgtat tgagcatgcg atgggctgtt taaggtgtga cccctcactg      2880
     tgatggatat gaatttgttc atgaatattt ttttctatag tgtgagacag ctgccttgtg      2940
     tgggactgag aggcaagagt tgttcctgcc cttccctttg tgact                      2985
//


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