Annotation Detail
Information
- Associated Genes
- TLR1
- Associated Variants
-
TLR1 MUTATION
TLR1 MUTATION
TIRAP p.Ser180Leu (p.S180L) ( ENST00000700490.1, ENST00000700495.1, ENST00000700492.1, ENST00000700491.1, ENST00000700488.1, ENST00000392679.6, ENST00000392680.6, ENST00000700489.1, ENST00000392678.7 )
rs5743836
TLR2 p.Arg753Gln (p.R753Q) ( ENST00000260010.7, ENST00000642580.1, ENST00000642700.2, ENST00000643501.2, ENST00000646219.2, ENST00000646900.2, ENST00000714431.1, ENST00000714432.1, ENST00000714433.1, ENST00000714434.1, ENST00000714435.1, ENST00000714436.1 )
TLR1 p.Ser602Ile (p.S602I) ( ENST00000308979.7, ENST00000502213.6 )
TLR1 p.Asn325= (p.N325=) ( ENST00000308979.7, ENST00000502213.6 )
TLR6 p.Thr399Met (p.T399M) ( ENST00000381950.2, ENST00000508254.6 )
TLR6 p.Ser249Pro (p.S249P) ( ENST00000381950.2, ENST00000508254.6 )
ENSG00000285082 c.140+4295A>G, TLR4 p.Asp299Gly (p.D299G) ( ENST00000355622.8, ENST00000394487.5, ENST00000472304.2 )
ENSG00000285082 c.140+4595C>T, TLR4 p.Thr399Ile (p.T399I) ( ENST00000355622.8, ENST00000394487.5, ENST00000472304.2 )
TIRAP p.Ser180Leu (p.S180L) ( ENST00000392678.7, ENST00000392679.6, ENST00000392680.6, ENST00000700488.1, ENST00000700489.1, ENST00000700490.1, ENST00000700491.1, ENST00000700492.1, ENST00000700495.1 )
rs5743836
TLR2 p.Arg753Gln (p.R753Q) ( ENST00000260010.7, ENST00000642580.1, ENST00000642700.2, ENST00000643501.2, ENST00000646219.2, ENST00000646900.2, ENST00000714431.1, ENST00000714432.1, ENST00000714433.1, ENST00000714434.1, ENST00000714435.1, ENST00000714436.1 )
TLR1 p.Ser602Ile (p.S602I) ( ENST00000308979.7, ENST00000502213.6 )
TLR1 p.Asn325= (p.N325=) ( ENST00000308979.7, ENST00000502213.6 )
TLR6 p.Thr399Met (p.T399M) ( ENST00000381950.2, ENST00000508254.6 )
TLR6 p.Ser249Pro (p.S249P) ( ENST00000381950.2, ENST00000508254.6 )
ENSG00000285082 c.140+4295A>G, TLR4 p.Asp299Gly (p.D299G) ( ENST00000355622.8, ENST00000394487.5, ENST00000472304.2 )
ENSG00000285082 c.140+4595C>T, TLR4 p.Thr399Ile (p.T399I) ( ENST00000355622.8, ENST00000394487.5, ENST00000472304.2 ) - Associated Disease
- Tuberculosis, Pulmonary
- Source Database
- DisGeNET
- Description
- In the present study, we investigated whether variants in the TLR-1 1805T/G (Ile602Ser), TLR-2 2258G/A (Arg753Gln), TLR-4 896A/G (Asp299Gly), TLR-4 1196C/T (Thr399Ile), TLR-6 745C/T (Ser249Pro), TIRAP 975C/T (Ser180Leu) genes and TLR-9 promoter region polymorphisms at positions -1237C/T and -1486C/T are associated with susceptibility or resistance to pulmonary tuberculosis (PTB).
- Pubmed
- 20797905
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00108576748832121
- Year of publication
- 2010
Drugs