LOCUS       AY283670                1383 bp    mRNA    linear   HUM 17-JUN-2003
DEFINITION  Homo sapiens interleukin-1 receptor associated kinase 4 mutant form
            1 (IRAK4) mRNA, complete cds.
ACCESSION   AY283670
VERSION     AY283670.1
KEYWORDS    .
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1383)
  AUTHORS   Medvedev,A.E., Lentschat,A., Kuhns,D.B., Blanco,J.C., Salkowski,C.,
            Zhang,S., Arditi,M., Gallin,J.I. and Vogel,S.N.
  TITLE     Distinct mutations in IRAK-4 confer hyporesponsiveness to
            lipopolysaccharide and interleukin-1 in a patient with recurrent
            bacterial infections
  JOURNAL   J. Exp. Med. 198 (4), 521-531 (2003)
   PUBMED   12925671
REFERENCE   2  (bases 1 to 1383)
  AUTHORS   Medvedev,A.E., Lentschat,A., Kuhns,D.B., Blanco,J.C.G.,
            Salkowski,C., Zhang,S., Arditi,M., Gallin,J.I. and Vogel,S.N.
  TITLE     Direct Submission
  JOURNAL   Submitted (25-APR-2003) Microbiology and Immunology, University of
            Maryland, Baltimore, 655 West Baltimore Street, Baltimore, MD
            21201-1559, USA
FEATURES             Location/Qualifiers
     source          1..1383
                     /db_xref="H-InvDB:HIT000251387"
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /isolation_source="patient hyporespsonsive to
                     lipopolysaccharide and interleukin-1 and suffering from
                     recurrent bacterial infections"
                     /db_xref="taxon:9606"
                     /note="genotype: compound heterozygous"
     gene            1..1383
                     /gene="IRAK4"
     CDS             1..879
                     /gene="IRAK4"
                     /note="IRAK-4 mutated form 1; truncated protein kinase due
                     to premature stop codon"
                     /codon_start=1
                     /product="interleukin-1 receptor associated kinase 4
                     mutant form 1"
                     /protein_id="AAP57089.1"
                     /translation="MNKPITPSTYVRCLNVGLIRKLSDFIDPQEGWKKLAVAIKKPSG
                     DDRYNQFHIRRFEALLQTGKSPTSELLFDWGTTNCTAGDLVDLLIQNEFFAPASLLLP
                     DAVPKTANTLPSKEAITVQQKQMPFCDKDRTLMTPVQNLEQSYMPPDSSSPENKSLEV
                     SDTRFHSFSFYELKNVTNNFDERPISVGGNKMGEGGFGVVYKGYVNNTTVAVKKLAAM
                     VDITTEELKQQFDQEIKVMAKCQHENLVELLGFSSDGDDLCLVYVYMPNGSLLDRLSC
                     LDGTPPLSWHMRCKIA"
     variation       877
                     /gene="IRAK4"
                     /note="site of mutation 1; replacement results in
                     premature stop codon to glutamine amino acid change; as
                     compared to GenBank Accession Number AY283671 and
                     wild-type IRAK4"
                     /replace="c"
BASE COUNT          463 a          243 c          283 g          394 t
ORIGIN      
        1 atgaacaaac ccataacacc atcaacatat gtgcgctgcc tcaatgttgg actaattagg
       61 aagctgtcag attttattga tcctcaagaa ggatggaaga agttagctgt agctattaaa
      121 aaaccatctg gtgatgatag atacaatcag tttcacataa ggagatttga agcattactt
      181 caaactggaa aaagtcccac ttctgaatta ctgtttgact ggggcaccac aaattgcaca
      241 gctggtgatc ttgtggatct tttgatccaa aatgaatttt ttgctcctgc gagtcttttg
      301 ctcccagatg ctgttcccaa aactgctaat acactacctt ctaaagaagc tataacagtt
      361 cagcaaaaac agatgccttt ctgtgacaaa gacaggacat tgatgacacc tgtgcagaat
      421 cttgaacaaa gctatatgcc acctgactcc tcaagtccag aaaataaaag tttagaagtt
      481 agtgatacac gttttcacag tttttcattt tatgaattga agaatgtcac aaataacttt
      541 gatgaacgac ccatttctgt tggtggtaat aaaatgggag agggaggatt tggagttgta
      601 tataaaggct acgtaaataa cacaactgtg gcagtgaaga agcttgcagc aatggttgac
      661 attactactg aagaactgaa acagcagttt gatcaagaaa taaaagtaat ggcaaagtgt
      721 caacatgaaa acttagtaga actacttggt ttctcaagtg atggagatga cctctgctta
      781 gtatatgttt acatgcctaa tggttcattg ctagacagac tctcttgctt ggatggtact
      841 ccaccacttt cttggcacat gagatgcaag attgcttagg gtgcagctaa tggcatcaat
      901 tttctacatg aaaatcatca tattcataga gatattaaaa gtgcaaatat cttactggat
      961 gaagctttta ctgctaaaat atctgacttt ggccttgcac gggcttctga gaagtttgcc
     1021 cagacagtca tgactagcag aattgtggga acaacagctt atatggcacc agaagctttg
     1081 cgtggagaaa taacacccaa atctgatatt tacagctttg gtgtggtttt actagaaata
     1141 ataactggac ttccagctgt ggatgaacac cgtgaacctc agttattgct agatattaaa
     1201 gaagaaattg aagatgaaga aaagacaatt gaagattata ttgataaaaa gatgaatgat
     1261 gctgattcca cttcagttga agctatgtac tctgttgcta gtcaatgtct gcatgaaaag
     1321 aaaaataaga gaccagacat taagaaggtt caacagctgc tgcaagagat gacagcttct
     1381 taa
//