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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot O60602: Variant p.Thr82Ile

Toll-like receptor 5
Gene: TLR5
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Variant information Variant position: help 82
Type of variant: help LB/B
Residue change: help From Threonine (T) to Isoleucine (I) at position 82 (T82I, p.Thr82Ile).
Physico-chemical properties: help Change from medium size and polar (T) to medium size and hydrophobic (I)
BLOSUM score: help -1
Polymorphism: help Individuals with a common stop codon polymorphism in position 392 are unable to mediate flagellin signaling. This polymorphism acts in a dominant fashion and is associated with susceptibility to pneumonia caused by Legionella pneumophila [MIM:608556]. It also provides protection against systemic lupus erythematosus.A nonsense TLR5 polymorphism, resulting in p.Arg392Ter, confers resistance to melioidosis [MIM:615557], an infection caused by the Gram-negative, flagellated soil saprophyte Burkholderia pseudomallei. Carriers of this hypofunctional TLR5 variant may generate impaired inflammatory responses during melioidosis infection that result in reduced organ failure and lower mortality. -
Other resources: help


Sequence information Variant position: help 82
Protein sequence length: help 858
Location on the sequence: help TASSFPFLEQLQLLELGSQY T PLTIDKEAFRNLPNLRILDL
Residue conservation: help
Human                         TASSFPFLEQLQLLELGSQYTPLTIDKEAFRNLPNLRILDL

Mouse                         VATSFPLLERLQLLELGTQYANLTIGPGAFRNLPNLRILDL

Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 21 – 858 Toll-like receptor 5
Topological domain 21 – 639 Extracellular
Repeat 71 – 93 LRR 2



Literature citations
No reference for the current variant in UniProtKB/Swiss-Prot.
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.