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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q9Y2C9: Variant p.Asn690Thr

Toll-like receptor 6
Gene: TLR6
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Variant information Variant position: help 690
Type of variant: help LB/B
Residue change: help From Asparagine (N) to Threonine (T) at position 690 (N690T, p.Asn690Thr).
Physico-chemical properties: help Similar physico-chemical property. Both residues are medium size and polar.
BLOSUM score: help 0
Variant description: help Impairs the ability to induce NF-kappa-B activation.
Other resources: help


Sequence information Variant position: help 690
Protein sequence length: help 796
Location on the sequence: help QICLHERNFVPGKSIVENII N CIEKSYKSIFVLSPNFVQSE
Residue conservation: help 
Human                         QICLHERNFVPGKSIVENIINCIEKSYKSIFVLSPNFVQSE

Mouse                         RVCLHERNFVPGKSIVENIINFIEKSYKAIFVLSPHFIQSE

Bovine                        RICLHERNFVAGKSIVENIINCIEKSYKSIFVLSPNFVQSE
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 32 – 796 Toll-like receptor 6
Topological domain 608 – 796 Cytoplasmic
Domain 640 – 781 TIR
Alternative sequence 383 – 698 Missing. In isoform 2.
Mutagenesis 678 – 678 F -> A. Does not inhibit homodimer formation.
Helix 684 – 694



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 THR-120; VAL-128; PRO-194; THR-210; GLY-210; LYS-247; PRO-249; VAL-283; MET-327; ALA-427; ALA-442; ILE-465; THR-474; VAL-474; VAL-592; THR-690 AND HIS-708; CHARACTERIZATION OF VARIANTS VAL-128; PRO-194; VAL-474; THR-690 AND HIS-708;
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.