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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q9Y2C9: Variant p.Ser249Pro

Toll-like receptor 6
Gene: TLR6
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Variant information Variant position: help 249
Type of variant: help LB/B
Residue change: help From Serine (S) to Proline (P) at position 249 (S249P, p.Ser249Pro).
Physico-chemical properties: help Change from small size and polar (S) to medium size and hydrophobic (P)
BLOSUM score: help -1
Other resources: help


Sequence information Variant position: help 249
Protein sequence length: help 796
Location on the sequence: help KLNDDNCQVFIKFLSELTRG S TLLNFTLNHIETTWKCLVRV
Residue conservation: help 
Human                         KLNDDNCQVFIKFLSELTRGSTLLNFTLNHIETTWKCLVRV

Mouse                         KLNDENCQRLMTFLSELTRGPTLLNVTLQHIETTWKCSVKL

Bovine                        KLNDYNCQVLLKFLSGLTGGPTLLNFTLNHVETTWKCLVKV
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 32 – 796 Toll-like receptor 6
Topological domain 32 – 586 Extracellular
Repeat 220 – 250 LRR 8
Glycosylation 253 – 253 N-linked (GlcNAc...) asparagine
Disulfide bond 235 – 265



Literature citations
Natural selection in the TLR-related genes in the course of primate evolution.
Nakajima T.; Ohtani H.; Satta Y.; Uno Y.; Akari H.; Ishida T.; Kimura A.;
Immunogenetics 60:727-735(2008)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); VARIANT PRO-249; The novel allele of toll-like receptor 6 gene.
Liu Z.; Xiao W.; Wang J.; Li N.; Tai Y.;
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS THR-120 AND PRO-249; MET-327; Generation and annotation of the DNA sequences of human chromosomes 2 and 4.
Hillier L.W.; Graves T.A.; Fulton R.S.; Fulton L.A.; Pepin K.H.; Minx P.; Wagner-McPherson C.; Layman D.; Wylie K.; Sekhon M.; Becker M.C.; Fewell G.A.; Delehaunty K.D.; Miner T.L.; Nash W.E.; Kremitzki C.; Oddy L.; Du H.; Sun H.; Bradshaw-Cordum H.; Ali J.; Carter J.; Cordes M.; Harris A.; Isak A.; van Brunt A.; Nguyen C.; Du F.; Courtney L.; Kalicki J.; Ozersky P.; Abbott S.; Armstrong J.; Belter E.A.; Caruso L.; Cedroni M.; Cotton M.; Davidson T.; Desai A.; Elliott G.; Erb T.; Fronick C.; Gaige T.; Haakenson W.; Haglund K.; Holmes A.; Harkins R.; Kim K.; Kruchowski S.S.; Strong C.M.; Grewal N.; Goyea E.; Hou S.; Levy A.; Martinka S.; Mead K.; McLellan M.D.; Meyer R.; Randall-Maher J.; Tomlinson C.; Dauphin-Kohlberg S.; Kozlowicz-Reilly A.; Shah N.; Swearengen-Shahid S.; Snider J.; Strong J.T.; Thompson J.; Yoakum M.; Leonard S.; Pearman C.; Trani L.; Radionenko M.; Waligorski J.E.; Wang C.; Rock S.M.; Tin-Wollam A.-M.; Maupin R.; Latreille P.; Wendl M.C.; Yang S.-P.; Pohl C.; Wallis J.W.; Spieth J.; Bieri T.A.; Berkowicz N.; Nelson J.O.; Osborne J.; Ding L.; Meyer R.; Sabo A.; Shotland Y.; Sinha P.; Wohldmann P.E.; Cook L.L.; Hickenbotham M.T.; Eldred J.; Williams D.; Jones T.A.; She X.; Ciccarelli F.D.; Izaurralde E.; Taylor J.; Schmutz J.; Myers R.M.; Cox D.R.; Huang X.; McPherson J.D.; Mardis E.R.; Clifton S.W.; Warren W.C.; Chinwalla A.T.; Eddy S.R.; Marra M.A.; Ovcharenko I.; Furey T.S.; Miller W.; Eichler E.E.; Bork P.; Suyama M.; Torrents D.; Waterston R.H.; Wilson R.K.;
Nature 434:724-731(2005)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]; VARIANT PRO-249; The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
The MGC Project Team;
Genome Res. 14:2121-2127(2004)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2); VARIANT PRO-249; 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.