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UniProtKB/Swiss-Prot Q99836: Variant p.Ser230Asn

Myeloid differentiation primary response protein MyD88
Gene: MYD88
Variant information

Variant position:  230
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  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:  From Serine (S) to Asparagine (N) at position 230 (S230N, p.Ser230Asn).
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 medium size and polar (N)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  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:  Found in hematological malignancies; somatic mutation; unknown pathological significance; constitutively activates NF-kappaB complex activation.
Any additional useful information about the variant.

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



Sequence information

Variant position:  230
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:   ELIEKRCRRMVVVVSDDYLQ  S KECDFQTKFALSLSPGAHQK
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                         ELIEKRCRRMVVVVSDDYLQSKECDFQTKFALSLSPGAHQK

Gorilla                       ELIEKRCRRMVVVVSDDYLQSKECDFQTKFALSLSPGAHQK

Rhesus macaque                ELIEKRCRRMVVVVSDDYLQSKECDFQTKFALSLSPGAHQK

Chimpanzee                    ELIEKRCRRMVVVVSDDYLQSKECDFQTKFALSLSPGAHQK

Mouse                         ELIEKRCRRMVVVVSDDYLQSKECDFQTKFALSLSPGVQQK

Rat                           ELIEKRCRRMVVVVSDDYLQSKECDFQTKFALSLSPGVQQK

Pig                           ELIEKRCRRMVVVVSDDYLQSKECDFQTKFALSLSPGAHQK

Bovine                        ELIEKRCRRMVVVVSDEYLQSKECDFQTKFALSLSPGAHQK

Sheep                         ELIEKRCRRMVVVVSDXYLQSKECDFQTKFALSLSPGAHQK

Chicken                       ELIERRCRRMVVVISDDYLESDECDFQTKFALSLSPGARLK

Xenopus tropicalis            ELIEHRCRKMVVIISDDYLDSSECDFQTKFALSLGPGAREK

Zebrafish                     ELIEKRCKRMVVVISDDYLDSDACDFQTKFALSLCPGARTK

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
Domain 159 – 293 TIR
Modified residue 244 – 244 Phosphoserine
Alternative sequence 156 – 296 HMPERFDAFICYCPSDIQFVQEMIRQLEQTNYRLKLCVSDRDVLPGTCVWSIASELIEKRCRRMVVVVSDDYLQSKECDFQTKFALSLSPGAHQKRLIPIKYKAMKKEFPSILRFITVCDYTNPCTKSWFWTRLAKALSLP -> AAGWWWLSLMITCRARNVTSRPNLHSASLQVPIRSD. In isoform 3 and isoform 4.
Alternative sequence 215 – 215 R -> RLARRPRGG. In isoform 6.
Mutagenesis 217 – 217 R -> A. Strongly reduced activity.


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: 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;

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.