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EBI Dbfetch

ID   EF199623; SV 1; linear; genomic DNA; STD; HUM; 1008 BP.
XX
AC   EF199623;
XX
DT   23-JAN-2007 (Rel. 90, Created)
DT   17-JUN-2008 (Rel. 96, Last updated, Version 2)
XX
DE   Homo sapiens truncated MHC class I antigen (HLA-B) gene, HLA-B*44 variant
DE   null allele, exons 2 through 4 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   1-1008
RA   Smillie D.M.;
RT   "Identification of a new HLA-B44 null allele";
RL   Unpublished.
XX
RN   [2]
RP   1-1008
RA   Smillie D.M.;
RT   ;
RL   Submitted (20-DEC-2006) to the INSDC.
RL   Histocompatibility Laboratory, National Blood Service, Longley Lane,
RL   Sheffield S5 7JN, UK
XX
DR   MD5; 3ee9a85b89577f9eeaaf0a54046bcf1e.
XX
FH   Key             Location/Qualifiers
FH
FT   source          1..1008
FT                   /organism="Homo sapiens"
FT                   /chromosome="6"
FT                   /mol_type="genomic DNA"
FT                   /db_xref="taxon:9606"
FT   gene            <1..>1008
FT                   /gene="HLA-B"
FT                   /allele="HLA-B*44 variant null"
FT   mRNA            join(<1..270,371..632,733..>1008)
FT                   /gene="HLA-B"
FT                   /allele="HLA-B*44 variant null"
FT                   /product="truncated MHC class I antigen"
FT   CDS             join(<1..270,371..632,733..772)
FT                   /codon_start=3
FT                   /gene="HLA-B"
FT                   /allele="HLA-B*44 variant null"
FT                   /product="truncated MHC class I antigen"
FT                   /note="premature truncation due to 14 nt deletion in exon
FT                   3; not detected serologically"
FT                   /db_xref="GOA:A2ICZ8"
FT                   /db_xref="IMGT/HLA:B*44:52N"
FT                   /db_xref="InterPro:IPR001039"
FT                   /db_xref="InterPro:IPR011161"
FT                   /db_xref="InterPro:IPR011162"
FT                   /db_xref="InterPro:IPR027648"
FT                   /db_xref="UniProtKB/TrEMBL:A2ICZ8"
FT                   /protein_id="ABM69180.1"
FT                   /translation="SHSMRYFYTAMSRPGRGEPRFITVGYVDDTLFVRFDSDATSPRKE
FT                   PRAPWIEQEGPEYWDRETQISKTNTQTYRENLRTALRYYNQSEAGSHIIQRMYGCDVGP
FT                   DGRLLRGYDQDAYDGKDYIALNEDLSSWTAADTAAQVGGGPCGGAGQSLPGGPVRGVAP
FT                   QIPGEREGDAAARGPPKDTCDPPPHL"
FT   exon            1..270
FT                   /gene="HLA-B"
FT                   /allele="HLA-B*44 variant null"
FT                   /number=2
FT   gap             271..370
FT                   /estimated_length=unknown
FT   exon            371..632
FT                   /gene="HLA-B"
FT                   /allele="HLA-B*44 variant null"
FT                   /number=3
FT   variation       514^515
FT                   /gene="HLA-B"
FT                   /note="14 base insertion"
FT   gap             633..732
FT                   /estimated_length=unknown
FT   exon            733..1008
FT                   /gene="HLA-B"
FT                   /allele="HLA-B*44 variant null"
FT                   /number=4
XX
SQ   Sequence 1008 BP; 178 A; 251 C; 267 G; 112 T; 200 other;
     gctcccactc catgaggtat ttctacaccg ccatgtcccg gcccggccgc ggggagcccc        60
     gcttcatcac cgtgggctac gtggacgaca cgctgttcgt gaggttcgac agcgacgcca       120
     cgagtccgag gaaggagccg cgggcgccat ggatagagca ggaggggccg gagtattggg       180
     accgggagac acagatctcc aagaccaaca cacagactta ccgagagaac ctgcgcaccg       240
     cgctccgcta ctacaaccag agcgaggccg nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn       300
     nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn       360
     nnnnnnnnnn ggtctcacat catccagagg atgtacggct gcgacgtggg gccggacggg       420
     cgcctcctcc gcgggtatga ccaggacgcc tacgacggca aggattacat cgccctgaac       480
     gaggacctga gctcctggac cgcggcggac accgccgcgc aagtgggagg cggcccgtgt       540
     ggcggagcag gacagagcct acctggaggg cctgtgcgtg gagtcgctcc gcagatacct       600
     ggagaacggg aaggagacgc tgcagcgcgc ggnnnnnnnn nnnnnnnnnn nnnnnnnnnn       660
     nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn       720
     nnnnnnnnnn nnacccccca aagacacatg tgacccacca ccccatctct gaccatgagg       780
     tcaccctgag gtgctgggcc ctgggcttct accctgcgga gatcacactg acctggcagc       840
     gggatggcga ggaccaaact caggacaccg agcttgtgga gaccagacca gcaggagata       900
     gaaccttcca gaagtgggca gctgtggtgg tgccttctgg agaagagcag agatacacat       960
     gccatgtaca gcatgagggg ctgccgaagc ccctcaccct gagatggg                   1008
//


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