Variant position: 194 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 441 The length of the canonical sequence.
Location on the sequence:
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 IINPITMQCIKHYVGHGNAI NELKFHPRDPNLLLSVSKDHA
Mouse IINPITMQCIKHYVGHGNAI NELKFHPRDPNLLLSVSKDHA
Bovine IINPITMQCIKHYVGHGNAI NELKFHPRDPNLLLSVSKDHA
Chicken IINPITMQCIKHYVGHGNAI NELKFHPRDPNLLLSVSKDHA
Xenopus tropicalis IINPITMQCIKHYVGHGNAI NELKFHPRDPNLLLSVSKDHA
Zebrafish IINHITMQCVKHYVGHGNAI NELKFHPRDPNLLLSVSKDHA
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.
Type Positions Description
2 – 441 Polycomb protein EED
188 – 228 WD 3
81 – 441 Interaction with EZH2
149 – 303 Required for interaction with the matrix protein MA of HIV-1
197 – 197 N6,N6,N6-trimethyllysine; alternate
197 – 197 N6,N6-dimethyllysine; alternate
197 – 197 N6-methyllysine; alternate
193 – 193 I -> N. Impairs interaction with EZH2.
196 – 196 L -> P. Impairs interaction with EZH2.
193 – 198
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;
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.