LOCUS       AY283671                1381 bp    mRNA    linear   HUM 17-JUN-2003
DEFINITION  Homo sapiens interleukin-1 receptor associated kinase 4 mutant form
            2 (IRAK4) mRNA, complete cds.
ACCESSION   AY283671
VERSION     AY283671.1
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 1381)
  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 1381)
  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..1381
                     /db_xref="H-InvDB:HIT000251388"
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
     gene            1..1381
                     /gene="IRAK4"
     CDS             1..657
                     /gene="IRAK4"
                     /note="IRAK-4 mutated form 2; truncated protein kinase due
                     to frameshift and premature stop codon caused by deletion
                     of positions 620-621 in the wild-type coding region"
                     /codon_start=1
                     /product="interleukin-1 receptor associated kinase 4
                     mutant form 2"
                     /protein_id="AAP57090.1"
                     /translation="MNKPITPSTYVRCLNVGLIRKLSDFIDPQEGWKKLAVAIKKPSG
                     DDRYNQFHIRRFEALLQTGKSPTSELLFDWGTTNCTAGDLVDLLIQNEFFAPASLLLP
                     DAVPKTANTLPSKEAITVQQKQMPFCDKDRTLMTPVQNLEQSYMPPDSSSPENKSLEV
                     SDTRFHSFSFYELKNVTNNFDERPISVGGNKMGEGGFGVVYKGYVNNNCGSEEACSNG
                     "
     variation       619^620
                     /gene="IRAK4"
                     /note="site of deletion mutation 2; as compared to GenBank
                     Accession Number AY283670 and wild-type IRAK4"
                     /replace="ac"
BASE COUNT          462 a          243 c          283 g          393 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 caactgtggc agtgaagaag cttgcagcaa tggttgacat
      661 tactactgaa gaactgaaac agcagtttga tcaagaaata aaagtaatgg caaagtgtca
      721 acatgaaaac ttagtagaac tacttggttt ctcaagtgat ggagatgacc tctgcttagt
      781 atatgtttac atgcctaatg gttcattgct agacagactc tcttgcttgg atggtactcc
      841 accactttct tggcacatga gatgcaagat tgctcagggt gcagctaatg gcatcaattt
      901 tctacatgaa aatcatcata ttcatagaga tattaaaagt gcaaatatct tactggatga
      961 agcttttact gctaaaatat ctgactttgg ccttgcacgg gcttctgaga agtttgccca
     1021 gacagtcatg actagcagaa ttgtgggaac aacagcttat atggcaccag aagctttgcg
     1081 tggagaaata acacccaaat ctgatattta cagctttggt gtggttttac tagaaataat
     1141 aactggactt ccagctgtgg atgaacaccg tgaacctcag ttattgctag atattaaaga
     1201 agaaattgaa gatgaagaaa agacaattga agattatatt gataaaaaga tgaatgatgc
     1261 tgattccact tcagttgaag ctatgtactc tgttgctagt caatgtctgc atgaaaagaa
     1321 aaataagaga ccagacatta agaaggttca acagctgctg caagagatga cagcttctta
     1381 a
//