LOCUS       JF305974                 492 bp    mRNA    linear   HUM 04-APR-2011
DEFINITION  Homo sapiens mutant IL-17F mRNA, complete cds.
ACCESSION   JF305974
VERSION     JF305974.1
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 492)
  AUTHORS   Puel,A., Cypowyj,S., Bustamante,J., Wright,J.F., Liu,L., Lim,H.K.,
            Migaud,M., Israel,L., Chrabieh,M., Audry,M., Gumbleton,M.,
            Toulon,A., Bodemer,C., El-Baghdadi,J., Whitters,M., Paradis,T.,
            Brooks,J., Collins,M., Wolfman,N.M., Al-Muhsen,S., Galicchio,M.,
            Abel,L., Picard,C. and Casanova,J.L.
  TITLE     Chronic mucocutaneous candidiasis in humans with inborn errors of
            interleukin-17 immunity
  JOURNAL   Science 332 (6025), 65-68 (2011)
   PUBMED   21350122
REFERENCE   2  (bases 1 to 492)
  AUTHORS   Casanova,J.-L., Puel,A. and Cypowyj,S.
  TITLE     Direct Submission
  JOURNAL   Submitted (07-FEB-2011) St. Giles Laboratory of Human Genetics of
            Infectious Diseases, Rockefeller University, 1230 York Avenue, New
            York, NY 10065, USA
FEATURES             Location/Qualifiers
     source          1..492
                     /db_xref="H-InvDB:HIT000653767"
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
     CDS             1..492
                     /codon_start=1
                     /product="mutant IL-17F"
                     /protein_id="ADY18335.1"
                     /translation="MTVKTLHGPAMVKYLLLSILGLAFLSEAAARKIPKVGHTFFQKP
                     ESCPPVPGGSMKLDIGIINENQRVSMSRNIESRSTSPWNYTVTWDPNRYPLEVVQAQC
                     RNLGCINAQGKEDISMNSVPIQQETLVVRRKHQGCSVSFQLEKVLVTVGCTCVTPVIH
                     HVQ"
     variation       284
                     /note="dominant missense mutation in exon 3"
                     /replace="c"
BASE COUNT          116 a          136 c          126 g          114 t
ORIGIN      
        1 atgacagtga agaccctgca tggcccagcc atggtcaagt acttgctgct gtcgatattg
       61 gggcttgcct ttctgagtga ggcggcagct cggaaaatcc ccaaagtagg acatactttt
      121 ttccaaaagc ctgagagttg cccgcctgtg ccaggaggta gtatgaagct tgacattggc
      181 atcatcaatg aaaaccagcg cgtttccatg tcacgtaaca tcgagagccg ctccacctcc
      241 ccctggaatt acactgtcac ttgggacccc aaccggtacc ccttggaagt tgtacaggcc
      301 cagtgtagga acttgggctg catcaatgct caaggaaagg aagacatctc catgaattcc
      361 gttcccatcc agcaagagac cctggtcgtc cggaggaagc accaaggctg ctctgtttct
      421 ttccagttgg agaaggtgct ggtgactgtt ggctgcacct gcgtcacccc tgtcatccac
      481 catgtgcagt aa
//