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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q15910: Variant p.Tyr641His

Histone-lysine N-methyltransferase EZH2
Gene: EZH2
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Variant information Variant position: help 641
Type of variant: help LB/B
Residue change: help From Tyrosine (Y) to Histidine (H) at position 641 (Y641H, p.Tyr641His).
Physico-chemical properties: help Change from large size and aromatic (Y) to medium size and polar (H)
BLOSUM score: help 2
Variant description: help Found in patients with follicular lymphoma; also in diffuse large B-cell lymphoma; somatic mutation; changed substrate preferences; prefers substrates with greater methylation H3K27me0


Sequence information Variant position: help 641
Protein sequence length: help 746
Location on the sequence: help VAGWGIFIKDPVQKNEFISE Y CGEIISQDEADRRGKVYDKY
Residue conservation: help 
Human                         VAGWGIFIKDPVQKNEFISEYCGEIISQDEADRRGKVYDKY

Mouse                         VAGWGIFIKDPVQKNEFISEYCGEIISQDEADRRGKVYDKY

Xenopus tropicalis            VAGWGIFIKDPVQKNEFISEYCGEIISQDEADRRGKVYDKY

Zebrafish                     VAGWGIFIKEPVQKNEFISEYCGEIISQDEADRRGKVYDKY
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 746 Histone-lysine N-methyltransferase EZH2
Domain 612 – 727 SET
Cross 634 – 634 Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)



Literature citations
Somatic mutations altering EZH2 (Tyr641) in follicular and diffuse large B-cell lymphomas of germinal-center origin.
Morin R.D.; Johnson N.A.; Severson T.M.; Mungall A.J.; An J.; Goya R.; Paul J.E.; Boyle M.; Woolcock B.W.; Kuchenbauer F.; Yap D.; Humphries R.K.; Griffith O.L.; Shah S.; Zhu H.; Kimbara M.; Shashkin P.; Charlot J.F.; Tcherpakov M.; Corbett R.; Tam A.; Varhol R.; Smailus D.; Moksa M.; Zhao Y.; Delaney A.; Qian H.; Birol I.; Schein J.; Moore R.; Holt R.; Horsman D.E.; Connors J.M.; Jones S.; Aparicio S.; Hirst M.; Gascoyne R.D.; Marra M.A.;
Nat. Genet. 42:181-185(2010)
Cited for: VARIANTS PHE-641; SER-641; ASN-641; HIS-641 AND CYS-641; 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.