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 //