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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q15910: Variant p.Ala677Gly

Histone-lysine N-methyltransferase EZH2
Gene: EZH2
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Variant information Variant position: help 677
Type of variant: help LB/B
Residue change: help From Alanine (A) to Glycine (G) at position 677 (A677G, p.Ala677Gly).
Physico-chemical properties: help Change from small size and hydrophobic (A) to glycine (G)
BLOSUM score: help 0
Variant description: help Found in a patient with B-cell lymphoma; increased hypertrimethylation of H3K27; changed substrate preferences; confers biochemical activity independent of H3K27 methylation state.
Other resources: help


Sequence information Variant position: help 677
Protein sequence length: help 746
Location on the sequence: help VYDKYMCSFLFNLNNDFVVD A TRKGNKIRFANHSVNPNCYA
Residue conservation: help 
Human                         VYDKYMCSFLFNLNNDFVVDATRKGNKIRFANHSVNPNCYA

Mouse                         VYDKYMCSFLFNLNNDFVVDATRKGNKIRFANHSVNPNCYA

Xenopus tropicalis            VYDKYMCSFLFNLNNDFVVDATRKGNKIRFANHSVNPNCYA

Zebrafish                     VYDKYMCSFLFNLNNDFVVDATRKGNKIRFANHSVNPNCYA
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 746 Histone-lysine N-methyltransferase EZH2
Domain 612 – 727 SET
Mutagenesis 667 – 667 F -> I. Strongly decreases histone methyltransferase activity.
Mutagenesis 689 – 689 H -> A. Abrogates methyltransferase activity.



Literature citations
Mutation of A677 in histone methyltransferase EZH2 in human B-cell lymphoma promotes hypertrimethylation of histone H3 on lysine 27 (H3K27).
McCabe M.T.; Graves A.P.; Ganji G.; Diaz E.; Halsey W.S.; Jiang Y.; Smitheman K.N.; Ott H.M.; Pappalardi M.B.; Allen K.E.; Chen S.B.; Della Pietra A. III; Dul E.; Hughes A.M.; Gilbert S.A.; Thrall S.H.; Tummino P.J.; Kruger R.G.; Brandt M.; Schwartz B.; Creasy C.L.;
Proc. Natl. Acad. Sci. U.S.A. 109:2989-2994(2012)
Cited for: VARIANT GLY-677; CHARACTERIZATION OF VARIANTS ASN-641; CYS-641; HIS-641; PHE-641 AND GLY-677; FUNCTION; CATALYTIC ACTIVITY;
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.