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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot O75530: Variant p.Arg302Ser

Polycomb protein EED
Gene: EED
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Variant information Variant position: help 302 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help LP/P [Disclaimer] 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 Serine (S) at position 302 (R302S, p.Arg302Ser). 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 small size and polar (S) 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 In COGIS; decreased trimethylation of 'Lys-27' of histone H3. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 302 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 441 The length of the canonical sequence.
Location on the sequence: help PNKTNRPFISQKIHFPDFST R DIHRNYVDCVRWLGDLILSK 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                         PNKTNRPFISQKIHFPDFSTRDIHRNYVDCVRWLGDLILSK

Mouse                         PNKTNRPFISQKIHFPDFSTRDIHRNYVDCVRWLGDLILSK

Bovine                        PNKTNRPFISQKIHFPDFSTRDIHRNYVDCVRWLGDLILSK

Chicken                       PNKTNRPFISQKIHFPDFSTRDIHRNYVDCVRWLGDLILSK

Xenopus tropicalis            PNKTNRPFVSQKIHFPDFSTRDIHRNYVDCVRWLGDLILSK

Zebrafish                     PSKTNRPFVSQKIHFPDFSTRDIHRNYVDCVRWLGDLILSK
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 2 – 441 Polycomb protein EED
Region 81 – 441 Interaction with EZH2
Region 149 – 303 Required for interaction with the matrix protein MA of HIV-1
Region 301 – 441 Required for interaction with the matrix protein MA of HIV-1
Modified residue 284 – 284 N6,N6,N6-trimethyllysine; alternate
Modified residue 284 – 284 N6,N6-dimethyllysine; alternate
Modified residue 284 – 284 N6-methyllysine; alternate
Alternative sequence 322 – 322 K -> KSGRAILHSHQQCMRDPVSPNLRQHL. In isoform 2.



Literature citations
A novel mutation in EED associated with overgrowth.
Cohen A.S.; Tuysuz B.; Shen Y.; Bhalla S.K.; Jones S.J.; Gibson W.T.;
J. Hum. Genet. 60:339-342(2015)
Cited for: INVOLVEMENT IN COGIS; VARIANT COGIS SER-302; Mutations in genes encoding polycomb repressive complex 2 subunits cause Weaver syndrome.
Imagawa E.; Higashimoto K.; Sakai Y.; Numakura C.; Okamoto N.; Matsunaga S.; Ryo A.; Sato Y.; Sanefuji M.; Ihara K.; Takada Y.; Nishimura G.; Saitsu H.; Mizuguchi T.; Miyatake S.; Nakashima M.; Miyake N.; Soejima H.; Matsumoto N.;
Hum. Mutat. 38:637-648(2017)
Cited for: VARIANT COGIS THR-236; CHARACTERIZATION OF VARIANTS COGIS THR-236 AND SER-302; FUNCTION;
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.