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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q99836: Variant p.Arg98Cys

Myeloid differentiation primary response protein MyD88
Gene: MYD88
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Variant information Variant position: help 98 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 Arginine (R) to Cysteine (C) at position 98 (R98C, p.Arg98Cys). 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 large size and basic (R) to medium size and polar (C) 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 Found in hematological malignancies; uncertain significance; somatic mutation; loss of NF-kappa-B complex activation; loss of interaction with IRAK4; reduces homooligomerization. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 98 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 WQGRPGASVGRLLELLTKLG R DDVLLELGPSIEEDCQKYIL 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                         WQGR-P-GASVGRLLELLTKLGRDDVLLELGPSIEEDCQKYIL

Gorilla                       WQGR-P-GASVGRLLELLTKLGRDDVLLELGPSIEEDCQKY

Rhesus macaque                WQGR-P-GASVGRLLELLTKLGRDDVLLELGPSIEEDCQKY

Chimpanzee                    WQGR-P-GASVGRLLELLTKLGRDDVLLELGPSIEEDCQKY

Mouse                         WQGR-S-GASVGRLLELLALLDREDILKELKSRIEEDCQKY

Rat                           WQGR-S-GSSVGRLLELLALLDREDILYELKDRIEEDCQKY

Pig                           WQGR-P-GASVGRLLELLAKLGRDDVLVELGPSIEEDCRKY

Bovine                        WQRR-P-GASVGRLLELLAKLGRDDVLMELGPSIEEDCQKY

Sheep                         WQRR-P-GASVGRLLELLAKLGREDVLMELGPSIEEDCQKY

Chicken                       WQSRCPGGATVGQLLELLRQLGRHDVLLELGGSVEEDCKKY

Xenopus tropicalis            WEKK-CFRATVGGLLEMLKKMERNDILTDLGPLIEADCMKH

Zebrafish                     WETR-P-DATVANLLSILEKAERKDVISELKEILDDDCRKY

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 54 – 109 Death
Alternative sequence 110 – 110 E -> G. In isoform 4.



Literature citations
Molecular characterization and modular analysis of human MyD88.
Hardiman G.; Rock F.L.; Balasubramanian S.; Kastelein R.A.; Bazan J.F.;
Oncogene 13:2467-2475(1996)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); TISSUE SPECIFICITY; VARIANT CYS-98; 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;
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.