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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q99836: Variant p.Leu252Pro

Myeloid differentiation primary response protein MyD88
Gene: MYD88
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Variant information Variant position: help 252 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 Leucine (L) to Proline (P) at position 252 (L252P, p.Leu252Pro). 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 Similar physico-chemical property. Both residues are medium size and hydrophobic. The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -3 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 In WM1; uncertain significance; somatic mutation; constitutively activates NF-kappaB complex activation; gain-of-function mutation; does not affect interaction with IRAK4. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 252 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 ECDFQTKFALSLSPGAHQKR L IPIKYKAMKKEFPSILRFIT 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                         ECDFQTKFALSLSPGAHQKRLIPIKYKAMKKEFPSILRFIT

Gorilla                       ECDFQTKFALSLSPGAHQKRLIPIKYKAMKKEFPSILRFIT

Rhesus macaque                ECDFQTKFALSLSPGAHQKRLIPIKYKAMKKEFPSILRFIT

Chimpanzee                    ECDFQTKFALSLSPGAHQKRLIPIKYKAMKKEFPSILRFIT

Mouse                         ECDFQTKFALSLSPGVQQKRLIPIKYKAMKKDFPSILRFIT

Rat                           ECDFQTKFALSLSPGVQQKRLIPIKYKAMKKDFPSILRFIT

Pig                           ECDFQTKFALSLSPGAHQKRLIPVKYKSMKKEFPSILRFIT

Bovine                        ECDFQTKFALSLSPGAHQKRLIPIKYKPMKKEFPSILRFIT

Sheep                         ECDFQTKFALSLSPGAHQKRLIPIKYKPMKKEFPSILRFIT

Chicken                       ECDFQTKFALSLSPGARLKRLIPVKCKTMKNEFPSILRFIT

Xenopus tropicalis            ECDFQTKFALSLGPGAREKRLIPVKYKPMKRPFPSILRFIT

Zebrafish                     ACDFQTKFALSLCPGARTKRLIPVVYKSMKRPFPSILRFLT

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
Modified residue 244 – 244 Phosphoserine
Alternative sequence 156 – 296 HMPERFDAFICYCPSDIQFVQEMIRQLEQTNYRLKLCVSDRDVLPGTCVWSIASELIEKRCRRMVVVVSDDYLQSKECDFQTKFALSLSPGAHQKRLIPIKYKAMKKEFPSILRFITVCDYTNPCTKSWFWTRLAKALSLP -> AAGWWWLSLMITCRARNVTSRPNLHSASLQVPIRSD. In isoform 3 and isoform 4.
Beta strand 252 – 256



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; MYD88 L265P somatic mutation in Waldenstrom's macroglobulinemia.
Treon S.P.; Xu L.; Yang G.; Zhou Y.; Liu X.; Cao Y.; Sheehy P.; Manning R.J.; Patterson C.J.; Tripsas C.; Arcaini L.; Pinkus G.S.; Rodig S.J.; Sohani A.R.; Harris N.L.; Laramie J.M.; Skifter D.A.; Lincoln S.E.; Hunter Z.R.;
N. Engl. J. Med. 367:826-833(2012)
Cited for: VARIANT WM1 PRO-252; The genomic landscape of Waldenstrom macroglobulinemia is characterized by highly recurring MYD88 and WHIM-like CXCR4 mutations, and small somatic deletions associated with B-cell lymphomagenesis.
Hunter Z.R.; Xu L.; Yang G.; Zhou Y.; Liu X.; Cao Y.; Manning R.J.; Tripsas C.; Patterson C.J.; Sheehy P.; Treon S.P.;
Blood 123:1637-1646(2014)
Cited for: 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.