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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot O00206: Variant p.Cys246Ser

Toll-like receptor 4
Gene: TLR4
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Variant information Variant position: help 246 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 Cysteine (C) to Serine (S) at position 246 (C246S, p.Cys246Ser). 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 polar (C) to small size and polar (S) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -1 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 Allele TLR4*B (Gly-299, Ile-399) is associated with a blunted response to inhaled LPS. Additional information on the polymorphism described.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 246 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 839 The length of the canonical sequence.
Location on the sequence: help IRLHKLTLRNNFDSLNVMKT C IQGLAGLEVHRLVLGEFRNE 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                         IRLHKLTLRNNFDSLNVMKTCIQGLAGLEVHRLVLGEFRNE

Gorilla                       IRLHKLTLRNNFDSLNVMKTCIQGLAGLEVRRLVLGEFRNE

Mouse                         IKLHELTLRGNFNSSNIMKTCLQNLAGLHVHRLILGEFKDE

Rat                           IRLHELTLRSNFNSSNVLKMCLQNMTGLHVHRLILGEFKNE

Pig                           IRLNGLTLRSNFNSSDVMKTCIQGLAGSKVNQLVLGEFKNE

Bovine                        IKLNGLTLRSNFNSSHVMKTCIQGLAGLKTNRLVLGEFKNE

Cat                           VKLRELTLRSNFNSTDVMKASIQGLAGLQIHQLVLGEFKNE

Horse                         IKLHKLTLRSNFDSIDVMKSCIQGLAGLKVNRLVLGEFKNE

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 – 839 Toll-like receptor 4
Topological domain 24 – 631 Extracellular
Repeat 227 – 247 LRR 8
Helix 242 – 248



Literature citations
Excess of rare amino acid polymorphisms in the Toll-like receptor 4 in humans.
Smirnova I.; Hamblin M.T.; McBride C.; Beutler B.; Di Rienzo A.;
Genetics 158:1657-1664(2001)
Cited for: VARIANTS ARG-188; SER-246; GLY-299; SER-329; ILE-399; LEU-443; LYS-474; HIS-510; ARG-694; HIS-763 AND HIS-834;
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.