Results for the protein: NP

Results for the Protein: NP_000526

4505913

5395

PMS2

NCBI

mismatch repair endonuclease PMS2 isoform a [Homo sapiens]

Known Diseases associated with this Protein:
  COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4
  COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4, INCLUDED
  MISMATCH REPAIR CANCER SYNDROME

5

8

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Tips:

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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	RefSeq Protein: NP_000526 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 ↕
dbSNP	rs10254120	Polymorphism	p.ARG20GLN	N/A
dbSNP	rs17420802	Polymorphism	p.ASN775SER	N/A
dbSNP	rs3209663	Polymorphism	p.GLU41LYS	N/A
dbSNP	rs1802683	Polymorphism	p.GLY857ALA	N/A
dbSNP	rs2228006	Polymorphism	p.LYS541GLU	N/A
dbSNP	rs1805321	Polymorphism	p.PRO470SER	N/A
dbSNP	rs1805323	Polymorphism	p.THR485LYS	N/A
dbSNP	rs74902811	Polymorphism	p.THR511MET	N/A
OMIM	600259.0001	Disease	p.ARG134TER	MISMATCH REPAIR CANCER SYNDROME
OMIM	600259.0009	Disease	p.ARG628TER	COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4
OMIM	600259.0004	Disease	p.ARG802TER	MISMATCH REPAIR CANCER SYNDROME
OMIM	600259.0016	Disease	p.CYS73TER	MISMATCH REPAIR CANCER SYNDROME
OMIM	600259.0012	Disease	p.SER46ILE	MISMATCH REPAIR CANCER SYNDROME\|\|COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4, INCLUDED

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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