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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P58753: Variant p.Asp96Asn

Toll/interleukin-1 receptor domain-containing adapter protein
Gene: TIRAP
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Variant information Variant position: help 96
Type of variant: help LB/B
Residue change: help From Aspartate (D) to Asparagine (N) at position 96 (D96N, p.Asp96Asn).
Physico-chemical properties: help Change from medium size and acidic (D) to medium size and polar (N)
BLOSUM score: help 1
Polymorphism: help Genetic variations in TIRAP have been proposed to influence susceptibility or resistance to invasive pneumococcal disease, malaria [MIM:611162], and tuberculosis [MIM:607948]. It may define the bacteremia susceptibility locus 1 (BACTS1) [MIM:614382] (PubMed:17322885, PubMed:19602285). Indeed it has been reported that heterozygous carriage of p.Ser180Leu in populations from the U.K., Vietnam, and several African countries may confer protection against invasive pneumococcal disease, bacteremia, malaria, and tuberculosis (PubMed:17322885). However, analyzes of Russian, Ghanaian and Indonesian populations fail to replicate the association between p.Ser180Leu and susceptibility to tuberculosis formerly observed in West African and Algerian populations (PubMed:17322885, PubMed:18305471).
Variant description: help Hypomorphic variant resulting in impaired NF-kappa-B activation and TNF production; loss of interaction with MYD88.
Other resources: help


Sequence information Variant position: help 96
Protein sequence length: help 221
Location on the sequence: help DSGSSRWSKDYDVCVCHSEE D LVAAQDLVSYLEGSTASLRC
Residue conservation: help
Human                         DSGSSRWSKDYDVCVCHSEEDLVAAQDLVSYLEGSTASLRC

Mouse                         SSSSGRWSKDYDVCVCHSEEDLEAAQELVSYLEGSQASLRC

Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 221 Toll/interleukin-1 receptor domain-containing adapter protein
Domain 84 – 213 TIR
Disulfide bond 89 – 134
Helix 94 – 96



Literature citations
Submission
SeattleSNPs variation discovery resource;
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS PRO-9; TRP-13; ASN-96 AND LEU-180; A TIR domain variant of MyD88 adapter-like (Mal)/TIRAP results in loss of MyD88 binding and reduced TLR2/TLR4 signaling.
Nagpal K.; Plantinga T.S.; Wong J.; Monks B.G.; Gay N.J.; Netea M.G.; Fitzgerald K.A.; Golenbock D.T.;
J. Biol. Chem. 284:25742-25748(2009)
Cited for: FUNCTION; INTERACTION WITH MYD88; VARIANT ASN-96; CHARACTERIZATION OF VARIANTS PRO-9; TRP-13; ASN-96; LEU-180 AND ILE-197;
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.