Results for the protein: Q9H9B1

Results for the Protein: Q9H9B1

325511404

79813

EHMT1

NCBI, UniProt

EHMT1_HUMAN RecName: Full=Histone-lysine N-methyltransferase EHMT1; AltName: Full=Euchromatic histone-lysine N-methyltransferase 1; Short=Eu-HMTase1; AltName: Full=G9a-like protein 1; Short=GLP; Short=GLP1; AltName: Full=Histone H3-K9 methyltransferase 5; Short=H3-K9-HMTase 5; AltName: Full=Lysine N-methyltransferase 1D

Known Diseases associated with this Protein:
KLEEFSTRA SYNDROME
KLEEFSTRA SYNDROME (KLESTS)

4

4

3

1

4

Tips:

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Default View: ANK - cd00204 Arp - COG0666 Ank - pfam00023 ANK - smart00248 PreSET - smart00468 Pre-SET - pfam05033 SET - smart00317 SET - pfam00856	Swiss-Prot Protein: Q9H9B1 Identical to: NP_079033 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
Arp	COG0666	7.7e-35	739	1002
ANK	cd00204	1.7e-38	867	996
Ank	pfam00023	2.4e-06	772	804
Ank	pfam00023	4.7e-08	805	837
Ank	pfam00023	1e-07	838	871
Ank	pfam00023	1.7e-07	872	904
Ank	pfam00023	0.0002	905	937
Ank	pfam00023	3.2e-06	938	970
Pre-SET	pfam05033	7.8e-59	1013	1118
SET	pfam00856	1.4e-38	1137	1243
ANK	smart00248	4.6e-07	772	801
ANK	smart00248	1.7e-05	805	836
ANK	smart00248	1.1e-07	838	868
ANK	smart00248	5.4e-07	872	901
ANK	smart00248	5.3e-06	938	967
PreSET	smart00468	2.1e-34	1011	1110
SET	smart00317	1.4e-41	1127	1242

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs79514677	Polymorphism	p.ALA43GLY	N/A
Swiss-Prot	VAR_027642	Polymorphism	p.ALA388THR	N/A
Swiss-Prot	VAR_036345	Polymorphism	p.ALA43VAL	N/A
Swiss-Prot	VAR_069183	Disease	p.CYS1075TYR	Kleefstra syndrome (KLESTS)
Swiss-Prot	VAR_036346	Polymorphism	p.TYR1173PHE	N/A
OMIM	607001.0001	Disease	p.ARG1137TER	KLEEFSTRA SYNDROME
OMIM	607001.0004	Disease	p.ARG260TER	KLEEFSTRA SYNDROME
OMIM	607001.0003	Disease	p.CYS1042TYR	KLEEFSTRA 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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