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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q99836: Variant p.Met219Thr

Myeloid differentiation primary response protein MyD88
Gene: MYD88
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Variant information Variant position: help 219 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help US The variants are classified into three categories: LP/P, LB/B and US.
  • LP/P: likely pathogenic or pathogenic.
  • LB/B: likely benign or benign.
  • US: uncertain significance

Residue change: help From Methionine (M) to Threonine (T) at position 219 (M219T, p.Met219Thr). Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.
Physico-chemical properties: help Change from medium size and hydrophobic (M) to medium size and polar (T) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -1 The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:
  • Lowest score: -4 (low probability of substitution).
  • Highest score: 11 (high probability of substitution).
More information can be found on the following page

Variant description: help Found in hematological malignancies; uncertain significance; somatic mutation; constitutively activates NF-kappaB complex activation. Any additional useful information about the variant.


Sequence information Variant position: help 219 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 296 The length of the canonical sequence.
Location on the sequence: help LPGTCVWSIASELIEKRCRR M VVVVSDDYLQSKECDFQTKF 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences.
Human                         LPGTCVWSIASELIEKRCRRMVVVVSDDYLQSKECDFQTKF

Gorilla                       LPGTCVWSIASELIEKRCRRMVVVVSDDYLQSKECDFQTKF

Rhesus macaque                LPGTCVWSIASELIEKRCRRMVVVVSDDYLQSKECDFQTKF

Chimpanzee                    LPGTCVWSIASELIEKRCRRMVVVVSDDYLQSKECDFQTKF

Mouse                         LPGTCVWSIASELIEKRCRRMVVVVSDDYLQSKECDFQTKF

Rat                           LPGTCVWSIASELIEKRCRRMVVVVSDDYLQSKECDFQTKF

Pig                           LPGTCVWSIASELIEKRCRRMVVVVSDDYLQSKECDFQTKF

Bovine                        LPGTCVWSIASELIEKRCRRMVVVVSDEYLQSKECDFQTKF

Sheep                         LPGTCVWSIASELIEKRCRRMVVVVSDXYLQSKECDFQTKF

Chicken                       LPGTCVWSISGELIERRCRRMVVVISDDYLESDECDFQTKF

Xenopus tropicalis            LPGTCLWSITSELIEHRCRKMVVIISDDYLDSSECDFQTKF

Zebrafish                     LPGTCVWTIASELIEKRCKRMVVVISDDYLDSDACDFQTKF

Sequence annotation in neighborhood: help 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.
TypePositionsDescription
Chain 1 – 296 Myeloid differentiation primary response protein MyD88
Domain 159 – 293 TIR
Alternative sequence 156 – 296 HMPERFDAFICYCPSDIQFVQEMIRQLEQTNYRLKLCVSDRDVLPGTCVWSIASELIEKRCRRMVVVVSDDYLQSKECDFQTKFALSLSPGAHQKRLIPIKYKAMKKEFPSILRFITVCDYTNPCTKSWFWTRLAKALSLP -> AAGWWWLSLMITCRARNVTSRPNLHSASLQVPIRSD. In isoform 3 and isoform 4.
Alternative sequence 215 – 215 R -> RLARRPRGG. In isoform 6.
Mutagenesis 203 – 203 C -> S. Abolished interaction with E.coli TcpC without affecting ability to promote Toll-like receptor (TLR)-mediated cytokine production; when associated with S-280.
Mutagenesis 217 – 217 R -> A. Strongly reduced activity.
Beta strand 216 – 223



Literature citations
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.;
Nature 470:115-119(2011)
Cited for: VARIANTS MET-39; GLY-136; ILE-136; PHE-204; ARG-205; CYS-206; THR-207; ARG-209; THR-219; ASN-230 AND PRO-281; CHARACTERIZATION OF VARIANTS ARG-209; THR-219; ASN-230 AND PRO-281; INTERACTION WITH IRAK4; VARIANT WM1 PRO-252; CHARACTERIZATION OF VARIANT WM1 PRO-252;
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.