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 //