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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot O15455: Variant p.Leu412Phe

Toll-like receptor 3
Gene: TLR3
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Variant information Variant position: help 412 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help LB/B The variants are classified into three categories: LP/P, LB/B and US.
  • LP/P: likely pathogenic or pathogenic.
  • LB/B: likely benign or benign.
  • US: uncertain significance

Residue change: help From Leucine (L) to Phenylalanine (F) at position 412 (L412F, p.Leu412Phe). Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.
Physico-chemical properties: help Change from medium size and hydrophobic (L) to large size and aromatic (F) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help 0 The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:
  • Lowest score: -4 (low probability of substitution).
  • Highest score: 11 (high probability of substitution).
More information can be found on the following page

Polymorphism: help The Phe-412 allele (dbSNP:rs3775291) occurs with a frequency of 30% in populations with European and Asian ancestry, and confers some natural resistance to HIV-1 infection. Additional information on the polymorphism described.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 412 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 904 The length of the canonical sequence.
Location on the sequence: help SLRTLTNETFVSLAHSPLHI L NLTKNKISKIESDAFSWLGH The residue change on the sequence. Unless the variant is located at the beginning or at the end of the protein sequence, both residues upstream (20) and downstream (20) of the variant will be shown.
Residue conservation: help The multiple alignment of the region surrounding the variant against various orthologous sequences.
Human                         SLRTLTNETFVSLAHSPLHILNLTKNKISKIESDAFSWLGH

Mouse                         SLQTLTNETFVSLAHSPLLTLNLTKNHISKIANGTFSWLGQ

Bovine                        SLRTLTNETFLSLAGCPLLLLDLTKNKISKIQSGAFSWLGH

Sequence annotation in neighborhood: help The regions or sites of interest surrounding the variant. In general the features listed are posttranslational modifications, binding sites, enzyme active sites, local secondary structure or other characteristics reported in the cited references. The "Sequence annotation in neighborhood" lines have a fixed format:
  • Type: the type of sequence feature.
  • Positions: endpoints of the sequence feature.
  • Description: contains additional information about the feature.
TypePositionsDescription
Chain 24 – 904 Toll-like receptor 3
Topological domain 24 – 704 Lumenal
Repeat 408 – 429 LRR 15
Glycosylation 398 – 398 N-linked (GlcNAc...) asparagine
Glycosylation 413 – 413 N-linked (GlcNAc...) asparagine
Beta strand 411 – 413



Literature citations
TLR polymorphism.
Macquin C.; Bahram S.;
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANT PHE-412; Complete sequencing and characterization of 21,243 full-length human cDNAs.
Ota T.; Suzuki Y.; Nishikawa T.; Otsuki T.; Sugiyama T.; Irie R.; Wakamatsu A.; Hayashi K.; Sato H.; Nagai K.; Kimura K.; Makita H.; Sekine M.; Obayashi M.; Nishi T.; Shibahara T.; Tanaka T.; Ishii S.; Yamamoto J.; Saito K.; Kawai Y.; Isono Y.; Nakamura Y.; Nagahari K.; Murakami K.; Yasuda T.; Iwayanagi T.; Wagatsuma M.; Shiratori A.; Sudo H.; Hosoiri T.; Kaku Y.; Kodaira H.; Kondo H.; Sugawara M.; Takahashi M.; Kanda K.; Yokoi T.; Furuya T.; Kikkawa E.; Omura Y.; Abe K.; Kamihara K.; Katsuta N.; Sato K.; Tanikawa M.; Yamazaki M.; Ninomiya K.; Ishibashi T.; Yamashita H.; Murakawa K.; Fujimori K.; Tanai H.; Kimata M.; Watanabe M.; Hiraoka S.; Chiba Y.; Ishida S.; Ono Y.; Takiguchi S.; Watanabe S.; Yosida M.; Hotuta T.; Kusano J.; Kanehori K.; Takahashi-Fujii A.; Hara H.; Tanase T.-O.; Nomura Y.; Togiya S.; Komai F.; Hara R.; Takeuchi K.; Arita M.; Imose N.; Musashino K.; Yuuki H.; Oshima A.; Sasaki N.; Aotsuka S.; Yoshikawa Y.; Matsunawa H.; Ichihara T.; Shiohata N.; Sano S.; Moriya S.; Momiyama H.; Satoh N.; Takami S.; Terashima Y.; Suzuki O.; Nakagawa S.; Senoh A.; Mizoguchi H.; Goto Y.; Shimizu F.; Wakebe H.; Hishigaki H.; Watanabe T.; Sugiyama A.; Takemoto M.; Kawakami B.; Yamazaki M.; Watanabe K.; Kumagai A.; Itakura S.; Fukuzumi Y.; Fujimori Y.; Komiyama M.; Tashiro H.; Tanigami A.; Fujiwara T.; Ono T.; Yamada K.; Fujii Y.; Ozaki K.; Hirao M.; Ohmori Y.; Kawabata A.; Hikiji T.; Kobatake N.; Inagaki H.; Ikema Y.; Okamoto S.; Okitani R.; Kawakami T.; Noguchi S.; Itoh T.; Shigeta K.; Senba T.; Matsumura K.; Nakajima Y.; Mizuno T.; Morinaga M.; Sasaki M.; Togashi T.; Oyama M.; Hata H.; Watanabe M.; Komatsu T.; Mizushima-Sugano J.; Satoh T.; Shirai Y.; Takahashi Y.; Nakagawa K.; Okumura K.; Nagase T.; Nomura N.; Kikuchi H.; Masuho Y.; Yamashita R.; Nakai K.; Yada T.; Nakamura Y.; Ohara O.; Isogai T.; Sugano S.;
Nat. Genet. 36:40-45(2004)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2); VARIANT PHE-412; Toll-like receptor 3 and geographic atrophy in age-related macular degeneration.
Yang Z.; Stratton C.; Francis P.J.; Kleinman M.E.; Tan P.L.; Gibbs D.; Tong Z.; Chen H.; Constantine R.; Yang X.; Chen Y.; Zeng J.; Davey L.; Ma X.; Hau V.S.; Wang C.; Harmon J.; Buehler J.; Pearson E.; Patel S.; Kaminoh Y.; Watkins S.; Luo L.; Zabriskie N.A.; Bernstein P.S.; Cho W.; Schwager A.; Hinton D.R.; Klein M.L.; Hamon S.C.; Simmons E.; Yu B.; Campochiaro B.; Sunness J.S.; Campochiaro P.; Jorde L.; Parmigiani G.; Zack D.J.; Katsanis N.; Ambati J.; Zhang K.;
N. Engl. J. Med. 359:1456-1463(2008)
Cited for: VARIANT PHE-412; A common polymorphism in TLR3 confers natural resistance to HIV-1 infection.
Sironi M.; Biasin M.; Cagliani R.; Forni D.; De Luca M.; Saulle I.; Lo Caputo S.; Mazzotta F.; Macias J.; Pineda J.A.; Caruz A.; Clerici M.;
J. Immunol. 188:818-823(2012)
Cited for: VARIANT PHE-412;
Disclaimer: Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.