KEGG   VARIANT: 114609v1
Entry
114609v1                      Variant                              
Name
TIRAP mutation
Type
Loss of function
Gene
TIRAP  TIR domain containing adaptor protein [KO:K05403]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 606252
Network
nt06517  TLR signaling
Disease
H00342  Tuberculosis
Reference
  Authors
Nejentsev S, Thye T, Szeszko JS, Stevens H, Balabanova Y, Chinbuah AM, Hibberd M, van de Vosse E, Alisjahbana B, van Crevel R, Ottenhoff TH, Png E, Drobniewski F, Todd JA, Seielstad M, Horstmann RD
  Title
Analysis of association of the TIRAP (MAL) S180L variant and tuberculosis in three populations.
  Journal
Nat Genet 40:261-2; author reply 262-3 (2008)
DOI:10.1038/ng0308-261
Reference
  Authors
Hawn TR, Dunstan SJ, Thwaites GE, Simmons CP, Thuong NT, Lan NTN, Quy HT, Chau TTH, Hieu NT, Rodrigues S, Janer M, Zhao LP, Hien TT, Farrar JJ, Aderem A
  Title
A polymorphism in Toll-interleukin 1 receptor domain containing adaptor protein is associated with susceptibility to meningeal tuberculosis.
  Journal
J Infect Dis 194:1127-1134 (2006)
DOI:10.1086/507907
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