Variant position: 753 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 784 The length of the canonical sequence.
Location on the sequence:
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: The multiple alignment of the region surrounding the variant against various orthologous sequences.
Human ILILLEPIEKKAIPQ---RFCKL RKIMNTKTY-------------LEWPMDEAQREG
Gorilla ILILLEPIEKKAIPQ---RFCKL RKIMNTKTY---------
Rhesus macaque ILVLLEPIEKKAIPQ---RFCKL RKIMNTKTY---------
Chimpanzee ILILLEPIEKKAIPQ---RFCKL RKIMNTKTY---------
Mouse ILVLLEPIERKAIPQ---RFCKL RKIMNTKTY---------
Bovine ILILLEPIDKKAIPQ---RFCKL RKIMNTKTY---------
Goat ILILLEPIDKKAIPQ---RFCKL RKIMNTKTY---------
Sheep ILILLEPIDKKAVPQ---RFCKL RKIMNTRTY---------
Horse ILILLEPIDKKAIPQ---RFCKL RKIMNTKTY---------
Drosophila YTCPSSPKSHRISHSGTGRSATL RNSLPAESLSSGGSGGGG
Sequence annotation in neighborhood: 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.
Type Positions Description
21 – 784 Toll-like receptor 2
610 – 784 Cytoplasmic
639 – 782 TIR
754 – 754 Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)
751 – 751 K -> R. Reduced protein stability.
754 – 754 K -> R. Loss of PPP1R11-mediated ubiquitination and degradation.
750 – 758
The heterogeneous allelic repertoire of human Toll-Like receptor (TLR) genes.
Georgel P.; Macquin C.; Bahram S.;
PLoS ONE 4:E7803-E7803(2009)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; VARIANTS HIS-631 AND GLN-753;
Functional characterization of naturally occurring genetic variants in the human TLR1-2-6 gene family.
Ben-Ali M.; Corre B.; Manry J.; Barreiro L.B.; Quach H.; Boniotto M.; Pellegrini S.; Quintana-Murci L.;
Hum. Mutat. 32:643-652(2011)
Cited for: VARIANTS ASP-89; ILE-411; HIS-571; HIS-631; ARG-636 AND GLN-753; CHARACTERIZATION OF VARIANTS ILE-411; HIS-631 AND GLN-753;
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.