LOCUS JF305973 2601 bp mRNA linear HUM 04-APR-2011
DEFINITION Homo sapiens truncated IL-17RA mRNA, complete cds.
ACCESSION JF305973
VERSION JF305973.1
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 2601)
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 2601)
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..2601
/db_xref="H-InvDB:HIT000653766"
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
CDS 1..852
/codon_start=1
/product="truncated IL-17RA"
/protein_id="ADY18334.1"
/translation="MGAARSPPSAVPGPLLGLLLLLLGVLAPGGASLRLLDHRALVCS
QPGLNCTVKNSTCLDDSWIHPRNLTPSSPKDLQIQLHFAHTQQGDLFPVAHIEWTLQT
DASILYLEGAELSVLQLNTNERLCVRFEFLSKLRHHHRRWRFTFSHFVVDPDQEYEVT
VHHLPKPIPDGDPNHQSKNFLVPDCEHARMKVTTPCMSSGSLWDPNITVETLEAHQLR
VSFTLWNESTHYQILLTSFPHMENHSCFEHMHHIPAPRPEEFHQRSNVTLTLRNLKGC
CRHQVQI"
variation 850
/note="nonsense recessive mutation in exon 9"
/replace="c"
BASE COUNT 500 a 865 c 789 g 447 t
ORIGIN
1 atgggggccg cacgcagccc gccgtccgct gtcccggggc ccctgctggg gctgctcctg
61 ctgctcctgg gcgtgctggc cccgggtggc gcctccctgc gactcctgga ccaccgggcg
121 ctggtctgct cccagccggg gctaaactgc acggtcaaga atagtacctg cctggatgac
181 agctggattc accctcgaaa cctgaccccc tcctccccaa aggacctgca gatccagctg
241 cactttgccc acacccaaca aggagacctg ttccccgtgg ctcacatcga atggacactg
301 cagacagacg ccagcatcct gtacctcgag ggtgcagagt tatctgtcct gcagctgaac
361 accaatgaac gtttgtgcgt caggtttgag tttctgtcca aactgaggca tcaccacagg
421 cggtggcgtt ttaccttcag ccactttgtg gttgaccctg accaggaata tgaggtgacc
481 gttcaccacc tgcccaagcc catccctgat ggggacccaa accaccagtc caagaatttc
541 cttgtgcctg actgtgagca cgccaggatg aaggtaacca cgccatgcat gagctcaggc
601 agcctgtggg accccaacat caccgtggag accctggagg cccaccagct gcgtgtgagc
661 ttcaccctgt ggaacgaatc tacccattac cagatcctgc tgaccagttt tccgcacatg
721 gagaaccaca gttgctttga gcacatgcac cacatacctg cgcccagacc agaagagttc
781 caccagcgat ccaacgtcac actcactcta cgcaacctta aagggtgctg tcgccaccaa
841 gtgcagatct agcccttctt cagcagctgc ctcaatgact gcctcagaca ctccgcgact
901 gtttcctgcc cagaaatgcc agacactcca gaaccaattc cggactacat gcccctgtgg
961 gtgtactggt tcatcacggg catctccatc ctgctggtgg gctccgtcat cctgctcatc
1021 gtctgcatga cctggaggct agctgggcct ggaagtgaaa aatacagtga tgacaccaaa
1081 tacaccgatg gcctgcctgc ggctgacctg atccccccac cgctgaagcc caggaaggtc
1141 tggatcatct actcagccga ccaccccctc tacgtggacg tggtcctgaa attcgcccag
1201 ttcctgctca ccgcctgcgg cacggaagtg gccctggacc tgctggaaga gcaggccatc
1261 tcggaggcag gagtcatgac ctgggtgggc cgtcagaagc aggagatggt ggagagcaac
1321 tctaagatca tcgtcctgtg ctcccgcggc acgcgcgcca agtggcaggc gctcctgggc
1381 cggggggcgc ctgtgcggct gcgctgcgac cacggaaagc ccgtggggga cctgttcact
1441 gcagccatga acatgatcct cccggacttc aagaggccag cctgcttcgg cacctacgta
1501 gtctgctact tcagcgaggt cagctgtgac ggcgacgtcc ccgacctgtt cggcgcggcg
1561 ccgcggtacc cgctcatgga caggttcgag gaggtgtact tccgcatcca ggacctggag
1621 atgttccagc cgggccgcat gcaccgcgta ggggagctgt cgggggacaa ctacctgcgg
1681 agcccgggcg gcaggcagct ccgcgccgcc ctggacaggt tccgggactg gcaggtccgc
1741 tgtcccgact ggttcgaatg tgagaacctc tactcagcag atgaccagga tgccccgtcc
1801 ctggacgaag aggtgtttga ggagccactg ctgcctccgg gaaccggcat cgtgaagcgg
1861 gcgcccctgg tgcgcgagcc tggctcccag gcctgcctgg ccatagaccc gctggtcggg
1921 gaggaaggag gagcagcagt ggcaaagctg gaacctcacc tgcagccccg gggtcagcca
1981 gcgccgcagc ccctccacac cctggtgctc gccgcagagg agggggccct ggtggccgcg
2041 gtggagcctg ggcccctggc tgacggtgcc gcagtccggc tggcactggc gggggagggc
2101 gaggcctgcc cgctgctggg cagcccgggc gctgggcgaa atagcgtcct cttcctcccc
2161 gtggaccccg aggactcgcc ccttggcagc agcaccccca tggcgtctcc tgacctcctt
2221 ccagaggacg tgagggagca cctcgaaggc ttgatgctct cgctcttcga gcagagtctg
2281 agctgccagg cccagggggg ctgcagtaga cccgccatgg tcctcacaga cccacacacg
2341 ccctacgagg aggagcagcg gcagtcagtg cagtctgacc agggctacat ctccaggagc
2401 tccccgcagc cccccgaggg actcacggaa atggaggaag aggaggaaga ggagcaggac
2461 ccagggaagc cggccctgcc actctctccc gaggacctgg agagcctgag gagcctccag
2521 cggcagctgc ttttccgcca gctgcagaag aactcgggct gggacacgat ggggtcagag
2581 tcagaggggc ccagtgcatg a
//