TLR3 L412F - GET-Evidence

Note: This variant has not been sufficiently evaluated by a GET-Evidence editor.

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Curation:
Currentness:

TLR3 L412F

(TLR3 Leu412Phe)


Short summary

 

Variant evidence
Computational -
Functional 3

See Yang Z et al. 2008 (18753640).

Case/Control 2

See Yang Z et al. 2008 (18753640).

Familial -
 
Clinical importance
Severity -
Treatability -
Penetrance -
 

Impact

Insufficiently evaluated pharmacogenetic

(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)

Inheritance pattern

unknown

Summary of published research, and additional commentary

 

Allele frequency

  • T @ chr4:187004074: 21.3% (2294/10758) in EVS
  • T @ chr4:187241067: 21.1% (27/128) in GET-Evidence
  • Frequency shown in summary reports: 21.3% (2294/10758)

Publications
 

301 Moved Permanently

Moved Permanently

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PubMed PMID: 18325643

 

Yang Z, Stratton C, Francis PJ, Kleinman ME, Tan PL, Gibbs D, Tong Z, Chen H, Constantine R, Yang X, Chen Y, Zeng J, Davey L, Ma X, Hau VS, Wang C, Harmon J, Buehler J, Pearson E, Patel S, Kaminoh Y, Watkins S, Luo L, Zabriskie NA, Bernstein PS, Cho W, Schwager A, Hinton DR, Klein ML, Hamon SC, Simmons E, Yu B, Campochiaro B, Sunness JS, Campochiaro P, Jorde L, Parmigiani G, Zack DJ, Katsanis N, Ambati J, Zhang K. Toll-like receptor 3 and geographic atrophy in age-related macular degeneration. N Engl J Med. 2008 Oct 2;359(14):1456-63. Epub 2008 Aug 27. Erratum in: N Engl J Med. 2009 Jul 23;361(4):431. N Engl J Med. 2008 Oct 23;359(17):1859. PubMed PMID: 18753640; PubMed Central PMCID: PMC2573951.

 

Sironi M, Biasin M, Cagliani R, Forni D, De Luca M, Saulle I, Lo Caputo S, Mazzotta F, MacĂ­as J, Pineda JA, Caruz A, Clerici M. A common polymorphism in TLR3 confers natural resistance to HIV-1 infection. J Immunol. 2012 Jan 15;188(2):818-23. Epub 2011 Dec 14. PubMed PMID: 22174453.

 

Genomes
 

hu034DB1 - CGI sample GS00253-DNA_A02_200_37
hom T @ chr4:187004074

 

hu0D879F - CGI sample GS00253-DNA_G01_200_37
het T @ chr4:187004074

 

hu241DEA - CGI sample GS01175-DNA_D05 from PGP sample 1205491
hom T @ chr4:187004074

 

hu2D6140 - CGI sample GS01173-DNA_F06 from PGP sample 64191565
het T @ chr4:187004074

 

 

hu38168C - CGI sample GS01173-DNA_H06 from PGP sample 91708424
het T @ chr4:187004074

 

hu4CA5B9 - CGI sample GS01669-DNA_B03 from PGP sample 14427241
het T @ chr4:187004074

 

 

 

hu92C40A - CGI sample GS01175-DNA_G03 from PGP sample 92527586
het T @ chr4:187004074

 

 

huBAAC98 - CGI sample GS01173-DNA_F02 from PGP sample 70008981
hom T @ chr4:187004074

 

huBEDA0B - CGI sample GS00253-DNA_C01_200_37
hom T @ chr4:187004074

 

huD37D14 - CGI sample GS01175-DNA_A04 from PGP sample 13272228
het T @ chr4:187004074

 

huFAF983 - CGI sample GS01175-DNA_F02 from PGP sample 95788191
hom T @ chr4:187004074

 

GS06985 - var-GS06985-1100-36-ASM
het T @ chr4:187241068

 

GS10851 - var-GS10851-1100-36-ASM
hom T @ chr4:187241068

 

GS12004 - var-GS12004-1100-36-ASM
het T @ chr4:187241068

 

GS18526 - var-GS18526-1100-36-ASM
het T @ chr4:187241068

 

GS18947 - var-GS18947-1100-36-ASM
hom T @ chr4:187241068

 

GS19026 - var-GS19026-1100-36-ASM
het T @ chr4:187241068

 

GS19649 - var-GS19649-1100-36-ASM
het T @ chr4:187241068

 

GS19834 - var-GS19834-1100-36-ASM
het T @ chr4:187241068

 

NA12878

 

Other external references
 

    dbSNP
  • rs3775291
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.991 (probably damaging)

Other in silico analyses
 

  • NBLOSUM100 score = 0
  • GET-Evidence autoscore = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

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