Results for the protein: P54278

Results for the Protein: P54278

317373266

5395

PMS2

NCBI, UniProt

PMS2_HUMAN RecName: Full=Mismatch repair endonuclease PMS2; AltName: Full=DNA mismatch repair protein PMS2; AltName: Full=PMS1 protein homolog 2

Known Diseases associated with this Protein:
MISMATCH REPAIR CANCER SYNDROME (MMRCS)

2

10

0

0

12

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: MutL - COG0323 HATPase_c - pfam02518 HATPase_c - cd00075 MutL_Trans_hPMS_1_li - cd03485 MutL_Trans_MLH1 - cd03483 MutL_Trans_hPMS_2_li - cd03484 TopoII_MutL_Trans - cd00329 MutL_Trans - cd00782 DNA_mis_repair - pfam01119 MutL_C - smart00853 MutL_C - pfam08676	Swiss-Prot Protein: P54278 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
HATPase_c	cd00075	5.8e-16	35	161
MutL_Trans_MLH1	cd03483	1.5e-05	222	356
MutL_Trans_hPMS_2_li	cd03484	4.9e-82	222	364
MutL_Trans_hPMS_1_li	cd03485	1.9e-06	222	364
TopoII_MutL_Trans	cd00329	3.7e-29	223	344
MutL_Trans	cd00782	1.3e-46	223	363
HATPase_c	pfam02518	2.3e-07	30	169
DNA_mis_repair	pfam01119	5.9e-19	227	363
MutL_C	smart00853	5e-35	675	811
MutL_C	pfam08676	5.4e-32	678	822

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_004469	Polymorphism	p.ARG20GLN	N/A
Swiss-Prot	VAR_016135	Polymorphism	p.ASN775SER	N/A
Swiss-Prot	VAR_012974	Disease	p.GLU705LYS	Mismatch repair cancer syndrome (MMRCS)
Swiss-Prot	VAR_012969	Polymorphism	p.HIS479GLN	N/A
Swiss-Prot	VAR_024541	Polymorphism	p.LYS541GLU	N/A
Swiss-Prot	VAR_012973	Polymorphism	p.MET622ILE	N/A
Swiss-Prot	VAR_016134	Polymorphism	p.PRO470SER	N/A
Swiss-Prot	VAR_066838	Disease	p.SER46ILE	Mismatch repair cancer syndrome (MMRCS)
Swiss-Prot	VAR_012971	Polymorphism	p.THR511ALA	N/A
Swiss-Prot	VAR_016133	Polymorphism	p.THR277LYS	N/A
Swiss-Prot	VAR_012970	Polymorphism	p.THR485LYS	N/A
Swiss-Prot	VAR_012972	Polymorphism	p.THR597SER	N/A

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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