Variant position: 689 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 746 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 LNNDFVVDATRKGNKIRFAN HSVNPNCYAKVMMVNGDHRIG
Mouse LNNDFVVDATRKGNKIRFAN HSVNPNCYAKVMMVNGDHRIG
Xenopus tropicalis LNNDFVVDATRKGNKIRFAN HSVNPNCYAKVMMVNGDHRIG
Zebrafish LNNDFVVDATRKGNKIRFAN HSVNPNCYAKVMMVNGDHRIG
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
1 – 746 Histone-lysine N-methyltransferase EZH2
612 – 727 SET
689 – 689 H -> A. Abrogates methyltransferase activity.
687 – 689
Mutations in EZH2 cause Weaver syndrome.
Gibson W.T.; Hood R.L.; Zhan S.H.; Bulman D.E.; Fejes A.P.; Moore R.; Mungall A.J.; Eydoux P.; Babul-Hirji R.; An J.; Marra M.A.; Chitayat D.; Boycott K.M.; Weaver D.D.; Jones S.J.;
Am. J. Hum. Genet. 90:110-118(2012)
Cited for: VARIANTS WVS SER-132; TYR-153 DEL AND TYR-689;
Weaver Syndrome-Associated EZH2 Protein Variants Show Impaired Histone Methyltransferase Function In Vitro.
Cohen A.S.; Yap D.B.; Lewis M.E.; Chijiwa C.; Ramos-Arroyo M.A.; Tkachenko N.; Milano V.; Fradin M.; McKinnon M.L.; Townsend K.N.; Xu J.; Van Allen M.I.; Ross C.J.; Dobyns W.B.; Weaver D.D.; Gibson W.T.;
Hum. Mutat. 37:301-307(2016)
Cited for: VARIANTS WVS CYS-133 AND CYS-679; CHARACTERIZATION OF VARIANTS WVS SER-132; CYS-133; TYR-153 DEL; CYS-679 AND TYR-689; VARIANT HIS-185; CHARACTERIZATION OF VARIANT HIS-185; MUTAGENESIS OF PHE-667;
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.