Database TLR3base
Version 1.0
File tlr3pub.html
Date 16-Jun-2011
Curator Mauno Vihinen
Address Protein Structure and Bioinformatics
Address Lund University, BMC D10, SE-22184 Lund, Sweden
Phone +46 72 526 0022
Fax +46 46 222 9328
Email Mauno Vihinen
URL http://structure.bmc.lu.se/idbase/TLR3base/
IDR factfile http://structure.bmc.lu.se/idbase/IDRefSeq/xml/idr/ff/FF166.html
Gene TLR3
Disease Influenssa-associated encephalopathy
OMIM 603029
GDB 9864746
Sequence IDRefSeq:D0124; IDRefSeq:C0124; UniProt:O15455
Numbering start of the entry
Funding Tampere University Hospital Medical Research Fund
Funding European Union
Comments sequence entry reference in every entry;
//
ID F303S(1); standard; MUTATION; LRR8
Accession T0001
Systematic name g.14440T>C, c.908T>C, r.908u>c, p.Phe303Ser
Description A point mutation in the exon 4 leading to an amino acid
Description change in the LRR8 domain
Date 30-Aug-2007 (Rel. 1, Created)
Date 30-Aug-2007 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 16517210
RefAuthors Hidaka, F., Matsuo, S., Muta, T., Takeshige, K., Mizukami,
RefAuthors T., Nunoi, H.
RefTitle A missense mutation of the toll-like receptor 3 gene in a
RefTitle patient with influenza-associated encephalopathy.
RefLoc Clin Immunol:188-194 (2006)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0124: 14440
Feature /change: t -> c
Feature /genomic_region: exon; 4
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0124; GI:19718735; TLR3C: 1009
Feature /codon: ttc -> tcc; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: O15455; TLR3_HUMAN: 303
Feature /change: F -> S
Feature /domain: LRR8
Age 4
Sex XX
Ethnic origin Mongoloid; Japan
//
ID P554S(1); standard; MUTATION; EC
Accession T0002
Systematic name g.15192C>T, c.1660C>T, r.1660c>u, p.Pro554Ser
Original code P1
Description A point mutation in the exon 4 leading to an amino acid
Description change in the EC domain
Date 04-Oct-2007 (Rel. 1, Created)
Date 04-Oct-2007 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17872438
RefAuthors Zhang, S. Y., Jouanguy, E., Ugolini, S., Smahi, A., Elain,
RefAuthors G., Romero, P., Segal, D., Sancho-Shimizu, V., Lorenzo,
RefAuthors L., Puel, A., Picard, C., Chapgier, A., Plancoulaine, S.,
RefAuthors Titeux, M., Cognet, C., von Bernuth, H., Ku, C. L.,
RefAuthors Casrouge, A., Zhang, X. X., Barreiro, L., Leonard, J.,
RefAuthors Hamilton, C., Lebon, P., Heron, B., Vallee, L., Quintana-
RefAuthors Murci, L., Hovnanian, A., Rozenberg, F., Vivier, E.,
RefAuthors Geissmann, F., Tardieu, M., Abel, L., Casanova, J. L.
RefTitle TLR3 deficiency in patients with herpes simplex
RefTitle encephalitis.
RefLoc Science:1522-1527 (2007)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0124: 15192
Feature /change: c -> t
Feature /genomic_region: exon; 4
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0124; GI:19718735; TLR3C: 1761
Feature /codon: ccc -> tcc; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: O15455; TLR3_HUMAN: 554
Feature /change: P -> S
Feature /domain: EC
Symptoms Herpes simplex encephalitis
Age 5
Sex XX
Ethnic origin Caucasoid; France
//
ID P554S(2); standard; MUTATION; EC
Accession T0003
Systematic name g.15192C>T, c.1660C>T, r.1660c>u, p.Pro554Ser
Original code P2
Description A point mutation in the exon 4 leading to an amino acid
Description change in the EC domain
Date 04-Oct-2007 (Rel. 1, Created)
Date 04-Oct-2007 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17872438
RefAuthors Zhang, S. Y., Jouanguy, E., Ugolini, S., Smahi, A., Elain,
RefAuthors G., Romero, P., Segal, D., Sancho-Shimizu, V., Lorenzo,
RefAuthors L., Puel, A., Picard, C., Chapgier, A., Plancoulaine, S.,
RefAuthors Titeux, M., Cognet, C., von Bernuth, H., Ku, C. L.,
RefAuthors Casrouge, A., Zhang, X. X., Barreiro, L., Leonard, J.,
RefAuthors Hamilton, C., Lebon, P., Heron, B., Vallee, L., Quintana-
RefAuthors Murci, L., Hovnanian, A., Rozenberg, F., Vivier, E.,
RefAuthors Geissmann, F., Tardieu, M., Abel, L., Casanova, J. L.
RefTitle TLR3 deficiency in patients with herpes simplex
RefTitle encephalitis.
RefLoc Science:1522-1527 (2007)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0124: 15192
Feature /change: c -> t
Feature /genomic_region: exon; 4
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0124; GI:19718735; TLR3C: 1761
Feature /codon: ccc -> tcc; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: O15455; TLR3_HUMAN: 554
Feature /change: P -> S
Feature /domain: EC
Symptoms Herpes simplex encephalitis
Age 5 mo
Sex XX
Ethnic origin Caucasoid; France
//
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