Results for the protein: Q15910

Results for the Protein: Q15910

3334180

2146

EZH2

NCBI, UniProt

EZH2_HUMAN RecName: Full=Histone-lysine N-methyltransferase EZH2; AltName: Full=ENX-1; AltName: Full=Enhancer of zeste homolog 2; AltName: Full=Lysine N-methyltransferase 6

Known Diseases associated with this Protein:
WEAVER SYNDROME
WEAVER SYNDROME (WVS)

4

7

2

1

8

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Default View: EZH2_WD-Binding - pfam11616 SANT - smart00717 SET - smart00317	Swiss-Prot Protein: Q15910 Identical to: NP_001190176 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
SANT	smart00717	4.3e-17	160	250
SET	smart00317	4e-44	613	726

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_067233	Polymorphism	p.ARG685HIS	N/A
dbSNP	rs2302427	Polymorphism	p.ASP185HIS	N/A
Swiss-Prot	VAR_067597	Disease	p.HIS689TYR	Weaver syndrome (WVS)
Swiss-Prot	VAR_067595	Disease	p.PRO132SER	Weaver syndrome (WVS)
Swiss-Prot	VAR_067231	Polymorphism	p.TYR641ASN	N/A
Swiss-Prot	VAR_067228	Polymorphism	p.TYR641CYS	N/A
Swiss-Prot	VAR_067230	Polymorphism	p.TYR641HIS	N/A
Swiss-Prot	VAR_067229	Polymorphism	p.TYR641PHE	N/A
Swiss-Prot	VAR_067232	Polymorphism	p.TYR641SER	N/A
OMIM	601573.0002	Disease	p.HIS689TYR	WEAVER SYNDROME
OMIM	601573.0003	Disease	p.PRO132SER	WEAVER SYNDROME

Please Cite: Peterson, T.A., Adadey, A., Santana-Cruz ,I., Sun, Y., Winder A, Kann, M.G., (2010) DMDM: Domain Mapping of Disease Mutations. Bioinformatics 26 (19), 2458-2459.

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