Results for the protein: O15550

Results for the Protein: O15550

206729942

7403

KDM6A

NCBI, UniProt

KDM6A_HUMAN RecName: Full=Lysine-specific demethylase 6A; AltName: Full=Histone demethylase UTX; AltName: Full=Ubiquitously-transcribed TPR protein on the X chromosome; AltName: Full=Ubiquitously-transcribed X chromosome tetratricopeptide repeat protein

Known Diseases associated with this Protein:
KABUKI SYNDROME 2

2

8

2

1

7

Tips:

The Domains on the Default View are decided by the Domain's E-Value.

Clicking a check box will display or hide the correlated domain.

To view the Gene page, either click on the link to the left or the blue bar above the Protein's graphic.

Default View: NrfG - COG0457 TPR - cd00189 TPR_1 - pfam00515 TPR - smart00028 TPR_2 - pfam07719 COG4235 - COG4235 JmjC - smart00558 JmjC - pfam02373	Swiss-Prot Protein: O15550 Identical to: NP_066963 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
TPR	cd00189	2.4e-13	94	199
TPR	cd00189	7.9e-06	206	316
TPR	cd00189	3.1e-12	319	418
TPR_1	pfam00515	4.2e-06	130	163
COG4235	COG4235	0.00079	154	407
TPR_1	pfam00515	2.8e-05	318	351
JmjC	pfam02373	5.9e-50	1133	1241
TPR_2	pfam07719	0.00049	130	163
TPR	smart00028	5.7e-05	130	163
TPR	smart00028	0.00019	318	351
JmjC	smart00558	1.3e-17	1099	1163

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_014492	Polymorphism	p.ALA30THR	N/A
Swiss-Prot	VAR_067227	Polymorphism	p.ARG922LYS	N/A
Swiss-Prot	VAR_014493	Polymorphism	p.GLN497HIS	N/A
Swiss-Prot	VAR_067226	Polymorphism	p.GLU834ASP	N/A
Swiss-Prot	VAR_067225	Polymorphism	p.ILE270VAL	N/A
Swiss-Prot	VAR_035871	Polymorphism	p.LEU1106ARG	N/A
Swiss-Prot	VAR_046527	Polymorphism	p.THR581ALA	N/A
dbSNP	rs2230018	Polymorphism	p.THR726LYS	N/A
OMIM	300128.0003	Disease	p.ARG519TER	KABUKI SYNDROME 2
OMIM	300128.0002	Disease	p.TRP1239TER	KABUKI SYNDROME 2

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.

DMDM_info@umbc.edu | 1000 Hilltop Circle, Baltimore, MD 21250 | Department of Biological Sciences | Phone: 410-455-2258