Annotation Detail

Information
Associated Genes
TLR2
Associated Variants
TLR2 p.Pro631His (p.P631H) ( ENST00000260010.7, ENST00000642580.1, ENST00000642700.2, ENST00000643501.2, ENST00000646219.2, ENST00000646900.2, ENST00000714431.1, ENST00000714432.1, ENST00000714433.1, ENST00000714434.1, ENST00000714435.1, ENST00000714436.1 )
TLR2 p.Pro631His (p.P631H) ( ENST00000260010.7, ENST00000642580.1, ENST00000642700.2, ENST00000643501.2, ENST00000646219.2, ENST00000646900.2, ENST00000714431.1, ENST00000714432.1, ENST00000714433.1, ENST00000714434.1, ENST00000714435.1, ENST00000714436.1 )
Associated Disease
tuberculosis
Source Database
DisGeNET
Description
Our data, in combination with a report by others show that the TLR2-P631H allele could be associated with protection to meningococcal meningitis, suggest that by dominantly inhibiting the response of cells important in the immune response this mutant might confer either protection or susceptibility to meningitis or tuberculosis, respectively.
Pubmed
20500688
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.0510557804292693
Year of publication
2010
Drugs