Dbfetch

ID   AH012438; SV 2; linear; genomic DNA; STD; HUM; 646 BP.
XX
AC   AH012438; AY174762-AY174763;
XX
DT   29-JUL-2011 (Rel. 109, Created)
DT   29-JUL-2011 (Rel. 109, Last updated, Version 1)
XX
DE   Homo sapiens MHC class I antigen (HLA-A) gene, HLA-A*R48P allele, partial
DE   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   1-646
RX   DOI; 10.1309/8DE12YU65BKHHQW6.
RX   PUBMED; 15323134.
RA   Henry J.B., Hubbell C.A., Davis M.C., Fernandez-Vina M.A., Yunis E.J.,
RA   Shrimpton A.E.;
RT   "A new HLA-A1 mutation: a novel, null variant allele";
RL   Am. J. Clin. Pathol. 122(2):185-192(2004).
XX
RN   [2]
RP   1-646
RA   Shrimpton A.E., Henry J.B., Hubbell C.A.;
RT   ;
RL   Submitted (01-NOV-2002) to the INSDC.
RL   Clinical Pathology, SUNY Upstate Medical University, 750 E Adams St,
RL   Syracuse, NY 13210, USA
XX
DR   MD5; d9a4f8fecc9e769dee2bf16f000dcdf8.
XX
CC   On or before Jul 28, 2011 this sequence version replaced
CC   gi:27652615, gi:27652616, gi:27652614.
XX
FH   Key             Location/Qualifiers
FH
FT   source          1..646
FT                   /organism="Homo sapiens"
FT                   /chromosome="6"
FT                   /mol_type="genomic DNA"
FT                   /db_xref="taxon:9606"
FT   gene            <1..>646
FT                   /gene="HLA-A"
FT                   /allele="HLA-A*R48P"
FT   mRNA            join(<1..270,371..>646)
FT                   /gene="HLA-A"
FT                   /allele="HLA-A*R48P"
FT                   /product="MHC class I antigen"
FT   CDS             join(<1..270,371..>646)
FT                   /codon_start=3
FT                   /gene="HLA-A"
FT                   /allele="HLA-A*R48P"
FT                   /product="MHC class I antigen"
FT                   /db_xref="GOA:Q861H1"
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:Q861H1"
FT                   /protein_id="AAO17717.1"
FT                   /translation="SHSMRYFFTSVSRPGRGEPRFIAVGYVDDTQFVRFDSDAASQKME
FT                   PPAPWIEQEGPEYWDQETRNMKAHSQTDRANLGTLRGYYNQSEDGSHTIQIMYGCDVGP
FT                   DGRFLRGYRQDAYDGKDYIALNEDLRSWTAADMAAQITKRKWEAVHAAEQRRVYLEGRC
FT                   VDGLRRYLENGKETLQRT"
FT   exon            1..270
FT                   /gene="HLA-A"
FT                   /allele="HLA-A*R48P"
FT                   /number=2
FT                   /note="contains a single nucleotide change which is
FT                   expected to abbrogate a salt bridge between beta-2
FT                   microglobulin Arg48 and Asp54 resulting in a loss of
FT                   function"
FT   gap             271..370
FT                   /estimated_length=unknown
FT   exon            371..646
FT                   /gene="HLA-A"
FT                   /allele="HLA-A*R48P"
FT                   /number=3
XX
SQ   Sequence 646 BP; 112 A; 165 C; 194 G; 75 T; 100 other;
     gctcccactc catgaggtat ttcttcacat ccgtgtcccg gcccggccgc ggggagcccc        60
     gcttcatcgc cgtgggctac gtggacgaca cgcagttcgt gcggttcgac agcgacgccg       120
     cgagccagaa gatggagccg ccggcgccgt ggatagagca ggaggggccg gagtattggg       180
     accaggagac acggaatatg aaggcccact cacagactga ccgagcgaac ctggggaccc       240
     tgcgcggcta ctacaaccag agcgaggacg nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn       300
     nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn       360
     nnnnnnnnnn gttctcacac catccagata atgtatggct gcgacgtggg gccggacggg       420
     cgcttcctcc gcgggtaccg gcaggacgcc tacgacggca aggattacat cgccctgaac       480
     gaggacctgc gctcttggac cgcggcggac atggcagctc agatcaccaa gcgcaagtgg       540
     gaggcggtcc atgcggcgga gcagcggaga gtctacctgg agggccggtg cgtggacggg       600
     ctccgcagat acctggagaa cgggaaggag acgctgcagc gcacgg                      646
//