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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot O75530: Variant p.Asn194Ser

Polycomb protein EED
Gene: EED
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Variant information Variant position: help 194 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 Asparagine (N) to Serine (S) at position 194 (N194S, p.Asn194Ser). 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 medium size and polar (N) 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. Any additional useful information about the variant.


Sequence information Variant position: help 194 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 IINPITMQCIKHYVGHGNAI N ELKFHPRDPNLLLSVSKDHA 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                         IINPITMQCIKHYVGHGNAINELKFHPRDPNLLLSVSKDHA

Mouse                         IINPITMQCIKHYVGHGNAINELKFHPRDPNLLLSVSKDHA

Bovine                        IINPITMQCIKHYVGHGNAINELKFHPRDPNLLLSVSKDHA

Chicken                       IINPITMQCIKHYVGHGNAINELKFHPRDPNLLLSVSKDHA

Xenopus tropicalis            IINPITMQCIKHYVGHGNAINELKFHPRDPNLLLSVSKDHA

Zebrafish                     IINHITMQCVKHYVGHGNAINELKFHPRDPNLLLSVSKDHA
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
Repeat 188 – 228 WD 3
Region 81 – 441 Interaction with EZH2
Region 149 – 303 Required for interaction with the matrix protein MA of HIV-1
Modified residue 197 – 197 N6,N6,N6-trimethyllysine; alternate
Modified residue 197 – 197 N6,N6-dimethyllysine; alternate
Modified residue 197 – 197 N6-methyllysine; alternate
Mutagenesis 193 – 193 I -> N. Impairs interaction with EZH2.
Mutagenesis 196 – 196 L -> P. Impairs interaction with EZH2.
Beta strand 193 – 198



Literature citations
Mutations in epigenetic regulation genes are a major cause of overgrowth with intellectual disability.
Tatton-Brown K.; Loveday C.; Yost S.; Clarke M.; Ramsay E.; Zachariou A.; Elliott A.; Wylie H.; Ardissone A.; Rittinger O.; Stewart F.; Temple I.K.; Cole T.; Mahamdallie S.; Seal S.; Ruark E.; Rahman N.;
Am. J. Hum. Genet. 100:725-736(2017)
Cited for: VARIANTS COGIS SER-194 AND GLY-236;
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.