Results for the protein: Q9Y253

Results for the Protein: Q9Y253

59798441

5429

POLH

NCBI, UniProt

POLH_HUMAN RecName: Full=DNA polymerase eta; AltName: Full=RAD30 homolog A; AltName: Full=Xeroderma pigmentosum variant type protein

Known Diseases associated with this Protein:
XERODERMA PIGMENTOSUM VARIANT TYPE (XPV)
XERODERMA PIGMENTOSUM, VARIANT TYPE

11

7

5

0

13

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: PolY_Rev1 - cd01701 DinP - COG0389 PolY_Pol_iota - cd01703 PolY_Pol_IV_kappa - cd03586 PolY_Pol_eta - cd01702 PolY_Pol_V_umuC - cd01700 PolY - cd00424 IMS - pfam00817 IMS_C - pfam11799	Swiss-Prot Protein: Q9Y253 Identical to: NP_006493 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
DinP	COG0389	2.4e-51	7	441
PolY	cd00424	3.1e-48	10	430
PolY_Pol_V_umuC	cd01700	2.1e-09	10	433
PolY_Pol_eta	cd01702	1.2e-222	10	428
PolY_Pol_iota	cd01703	6.7e-15	10	428
PolY_Pol_IV_kappa	cd03586	6.4e-51	10	429
IMS	pfam00817	4.6e-58	12	228
IMS_C	pfam11799	7.6e-15	284	423

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_021227	Disease	p.ARG111HIS	Xeroderma pigmentosum variant type (XPV)
Swiss-Prot	VAR_021232	Disease	p.ARG361SER	Xeroderma pigmentosum variant type (XPV)
Swiss-Prot	VAR_021231	Polymorphism	p.ARG334TRP	N/A
Swiss-Prot	VAR_036220	Polymorphism	p.GLY153ASP	N/A
Swiss-Prot	VAR_021229	Polymorphism	p.GLY209VAL	N/A
Swiss-Prot	VAR_021230	Disease	p.GLY263VAL	Xeroderma pigmentosum variant type (XPV)
Swiss-Prot	VAR_021235	Polymorphism	p.LEU584PRO	N/A
Swiss-Prot	VAR_021234	Disease	p.LYS535GLU	Xeroderma pigmentosum variant type (XPV)
Swiss-Prot	VAR_021236	Disease	p.LYS589THR	Xeroderma pigmentosum variant type (XPV)
Swiss-Prot	VAR_021238	Polymorphism	p.MET647LEU	N/A
Swiss-Prot	VAR_021237	Polymorphism	p.MET595VAL	N/A
Swiss-Prot	VAR_021233	Polymorphism	p.THR478MET	N/A
Swiss-Prot	VAR_021228	Disease	p.THR122PRO	Xeroderma pigmentosum variant type (XPV)
OMIM	603968.0004	Disease	p.GLU306TER	XERODERMA PIGMENTOSUM, VARIANT TYPE
OMIM	603968.0012	Disease	p.LYS535GLU	XERODERMA PIGMENTOSUM, VARIANT TYPE
OMIM	603968.0013	Disease	p.LYS589THR	XERODERMA PIGMENTOSUM, VARIANT TYPE
OMIM	603968.0006	Disease	p.VAL125TER	XERODERMA PIGMENTOSUM, VARIANT TYPE
OMIM	603968.0007	Disease	p.VAL372TER	XERODERMA PIGMENTOSUM, VARIANT TYPE

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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