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 //