Sequence information
Variant position: 411 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:
TLILRQNHLASLEKTGETLL
T LKNLTNIDISKNSFHSMPET
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 TLILRQNHLASLEKTGETLLT LKNLTNIDISKNSFHSMPET
Gorilla TLILRQNHLASLEKTGETLLT LKNLTNVDISKNSFHSMPET
TLVLRQNHLASLERTGETLLT LKNLTNIDISKNSFHSMPET
Rhesus macaque TLILRQNHLASLGKIGETLLT LKNLTNLDISKNTFHYMPET
Chimpanzee TLILRQNHLASLEKTGETLLT LKNLTNVDISKNSFHSMPET
Mouse TLVLSQNHLRSMQKTGEILLT LKNLTSLDISRNTFHPMPDS
Bovine TLVLRQNRLKSLEKTGELLLT LENLNNLDISKNNFLSMPET
Goat TLVLRQNRLKSLEKTGELLLT LKNLNNLDISKNNFLSMPET
Sheep TLVLRQNRLKSLEKTGELLLT LKNLNNLDISKNNFLSMPET
Horse TLILRQNHLTSLGKTGETLLT LKNLTKLDISKNSFHSMPET
Drosophila T-----NH-STMESLYNILII ILTYFLPIVSMTVTYSRVGI
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
Chain
21 – 784
Toll-like receptor 2
Topological domain
21 – 588
Extracellular
Repeat
389 – 414
LRR 14
Glycosylation
414 – 414
N-linked (GlcNAc...) asparagine
Mutagenesis
416 – 416
T -> A. Prevents addition of N-glycans. Reduces secretion of the N-terminal ectodomain.
Helix
409 – 411
Literature citations
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;
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.