Variant position: 178 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 296 The length of the canonical sequence.
Location on the sequence:
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 PERFDAFICYCPSDIQFVQE MIRQLEQTNYRLKLCVSDRDV
Gorilla PERFDAFICYCPSDIQFVQE MIRQLEQTNYRLKLCVSDRDV
Rhesus macaque PERFDAFICYCPSDIQFVQE MIRQLEQTNYRLKLCVSDRDV
Chimpanzee PERFDAFICYCPSDIQFVQE MIRQLEQTNYRLKLCVSDRDV
Mouse PELFDAFICYCPNDIEFVQE MIRQLEQTDYRLKLCVSDRDV
Rat PELFDAFICYCPSDIEFVQE MIRQLEQTDYRLKLCVSDRDV
Pig PEHFDAFICYCPSDIQFVQE MIRQLEQTNYRLKLCVSDRDV
Bovine PECFDAFICYCPSDIEFVHE MIRQLEQTNYRLKLCVSDRDV
Sheep PEYFDAFICYCPSDIEFVHE MIRQLEQTNYRLKLCVSDRDV
Chicken TEMFDAFICYCQKDLQFVQE MIRELEQTEFKLKLCVFDRDV
Xenopus tropicalis PETFDAFICYCAQDISFVQE MISRLEQTDYKLKLCVFDRDV
Zebrafish PETFDAFICYCQSDIQFVHE MIKQLEHTEYNLKLCVFDRDV
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
1 – 296 Myeloid differentiation primary response protein MyD88
159 – 293 TIR
156 – 296 HMPERFDAFICYCPSDIQFVQEMIRQLEQTNYRLKLCVSDRDVLPGTCVWSIASELIEKRCRRMVVVVSDDYLQSKECDFQTKFALSLSPGAHQKRLIPIKYKAMKKEFPSILRFITVCDYTNPCTKSWFWTRLAKALSLP -> AAGWWWLSLMITCRARNVTSRPNLHSASLQVPIRSD. In isoform 3 and isoform 4.
179 – 179 I -> N. In Pococurante (Poc); abolished MYD88-dependent sensing of most Toll-like receptor (TLR) ligands.
196 – 196 R -> A. Reduced interaction with TIRAP, and strongly reduced activity. Strongly reduced interaction with TIRAP; when associated with A-288.
197 – 197 D -> A. Slightly reduced activity.
172 – 183
Two human MYD88 variants, S34Y and R98C, interfere with MyD88-IRAK4-myddosome assembly.
George J.; Motshwene P.G.; Wang H.; Kubarenko A.V.; Rautanen A.; Mills T.C.; Hill A.V.; Gay N.J.; Weber A.N.;
J. Biol. Chem. 286:1341-1353(2011)
Cited for: INTERACTION WITH IRAK4; CHARACTERIZATION OF VARIANTS TYR-34; CYS-98 AND ILE-178;
Functional assessment of the mutational effects of human IRAK4 and MyD88 genes.
Yamamoto T.; Tsutsumi N.; Tochio H.; Ohnishi H.; Kubota K.; Kato Z.; Shirakawa M.; Kondo N.;
Mol. Immunol. 58:66-76(2014)
Cited for: FUNCTION; INTERACTION WITH IRAK4; CHARACTERIZATION OF VARIANTS TYR-34; CYS-98 AND ILE-178; CHARACTERIZATION OF VARIANTS IMD68 GLU-52 DEL; PRO-93 AND CYS-196;
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.