Variant position: 281 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 KKEFPSILRFITVCDYTNPC TKSWFWTRLAKALSLP
Gorilla KKEFPSILRFITVCDYTNPC TKSWFWTRLAKALSLP
Rhesus macaque KKEFPSILRFITVCDYTNPC TKSWFWTRLAKALSLP
Chimpanzee KKEFPSILRFITVCDYTNPC TKSWFWTRLAKALSLP
Mouse KKDFPSILRFITICDYTNPC TKSWFWTRLAKALSLP
Rat KKDFPSILRFITICDYTNPC TKSWFWTRLAKALSLP
Pig KKEFPSILRFITVCDYTNPC TKSWFWTRLARALSLP
Bovine KKEFPSILRFITVCDYTNPC TQNWFWTRLAKALSMP
Sheep KKEFPSILRFITVCDYTNPC TQNWFWTRLAKALSMP
Chicken KNEFPSILRFITICDYTNPC TKKWFWTRLAKSLLLP
Xenopus tropicalis KRPFPSILRFITLCDYTNPC TKGWFWERLAKALSR-
Zebrafish KRPFPSILRFLTICDYSKPC TQVWFWTRLAKALSLP
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 – 296 TIR
156 – 296 HMPERFDAFICYCPSDIQFVQEMIRQLEQTNYRLKLCVSDRDVLPGTCVWSIASELIEKRCRRMVVVVSDDYLQSKECDFQTKFALSLSPGAHQKRLIPIKYKAMKKEFPSILRFITVCDYTNPCTKSWFWTRLAKALSLP -> AAGWWWLSLMITCRARNVTSRPNLHSASLQVPIRSD. In isoform 3 and isoform 4.
282 – 282 K -> A. Slightly reduced activity.
288 – 288 R -> A. Slightly reduced activity, and reduced interaction with TIRAP. Strongly reduced interaction with TIRAP; when associated with A-196.
279 – 281
Oncogenically active MYD88 mutations in human lymphoma.
Ngo V.N.; Young R.M.; Schmitz R.; Jhavar S.; Xiao W.; Lim K.H.; Kohlhammer H.; Xu W.; Yang Y.; Zhao H.; Shaffer A.L.; Romesser P.; Wright G.; Powell J.; Rosenwald A.; Muller-Hermelink H.K.; Ott G.; Gascoyne R.D.; Connors J.M.; Rimsza L.M.; Campo E.; Jaffe E.S.; Delabie J.; Smeland E.B.; Fisher R.I.; Braziel R.M.; Tubbs R.R.; Cook J.R.; Weisenburger D.D.; Chan W.C.; Staudt L.M.;
Cited for: INTERACTION WITH IRAK4; VARIANTS MET-39; GLY-136; ILE-136; PHE-204; ARG-205; CYS-206; THR-207; ARG-209; THR-219; ASN-230; PRO-252 AND PRO-281; CHARACTERIZATION OF VARIANTS ARG-209; THR-219; ASN-230; PRO-252 AND PRO-281;
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.