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UniProtKB/Swiss-Prot Q99836: Variant p.Ser34Tyr

Myeloid differentiation primary response protein MyD88
Gene: MYD88
Variant information

Variant position:  34
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  Polymorphism
The variants are classified into three categories: Disease, Polymorphism and Unclassified.
  • Disease: Variants implicated in disease according to literature reports.
  • Polymorphism: Variants not reported to be implicated in disease.
  • Unclassified: Variants with uncertain implication in disease according to literature reports. Evidence against or in favor of a pathogenic role is limited and/or conflicting.

Residue change:  From Serine (S) to Tyrosine (Y) at position 34 (S34Y, p.Ser34Tyr).
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:  Change from small size and polar (S) to large size and aromatic (Y)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  -2
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:  Rare functional polymorphism; loss of NF-kappa-B complex activation; loss of interaction with IRAK4; reduces homooligomerization.
Any additional useful information about the variant.

Other resources:  
Links to websites of interest for the variant.



Sequence information

Variant position:  34
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:   VSSTSSLPLAALNMRVRRRL  S LFLNVRTQVAADWTALAEEM
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                         VSS-TSSLPLAALNMRVRRRLSLFLNVRTQVAADWTALAEEM

Gorilla                       VSS-TSSLPLAALNMRVRRRLSLFLNVRTQVAADWTALAEE

Rhesus macaque                VSS-TSSLPLAALNMRVRRRLSLFLNVRTQVAADWTALAEE

Chimpanzee                    ISS-TSSLPLAALNMRVRRRLSLFLNVRTQVAADWTALAEE

Mouse                         DSF-MFSIPLVALNVGVRRRLSLFLNPRTPVAADWTLLAEE

Rat                           DSY-LFSLPLVALNVGVRRRLSLFLNPRTTAAADWTSLAEE

Pig                           TPS-MSSLPLAALNVRVRHRLSLFLNVRTQVAADWTGLAEE

Bovine                        AAS-LSSLPLAALNVRVRRRLSLFLNVRAPVAADWTVLAEA

Sheep                         TPA-MSSLPLAALNVRVRRRLSLFLNVRAPVAADWTVLAEA

Chicken                       EPADLHSVPMVALNYGVRRRLGLYLNPRAATAADWTALAEK

Xenopus tropicalis            ----MNSIPLVALNYNVRHRLSLYLNPNAVVAAGWTQLAEE

Zebrafish                     ----HEAIPVTALNCSFRKKLGLFLNPTNTVAADWRTVAEL

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.

TypePositionsDescription
Chain 1 – 296 Myeloid differentiation primary response protein MyD88
Helix 27 – 37


Literature citations

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 MYD88D GLU-52 DEL; PRO-93 AND CYS-196;

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.