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Results for the Protein: P54278
317373266

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.

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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


Swiss-Prot Protein: P54278
   Default View:









Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
MutLCOG03232.3e-10413857
HATPase_ccd000755.8e-1635161
MutL_Trans_MLH1cd034831.5e-05222356
MutL_Trans_hPMS_2_licd034844.9e-82222364
MutL_Trans_hPMS_1_licd034851.9e-06222364
TopoII_MutL_Transcd003293.7e-29223344
MutL_Transcd007821.3e-46223363
HATPase_cpfam025182.3e-0730169
DNA_mis_repairpfam011195.9e-19227363
MutL_Csmart008535e-35675811
MutL_Cpfam086765.4e-32678822

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_004469Polymorphismp.ARG20GLNN/A
Swiss-ProtVAR_016135Polymorphismp.ASN775SERN/A
Swiss-ProtVAR_012974Diseasep.GLU705LYSMismatch repair cancer syndrome (MMRCS)
Swiss-ProtVAR_012969Polymorphismp.HIS479GLNN/A
Swiss-ProtVAR_024541Polymorphismp.LYS541GLUN/A
Swiss-ProtVAR_012973Polymorphismp.MET622ILEN/A
Swiss-ProtVAR_016134Polymorphismp.PRO470SERN/A
Swiss-ProtVAR_066838Diseasep.SER46ILEMismatch repair cancer syndrome (MMRCS)
Swiss-ProtVAR_012971Polymorphismp.THR511ALAN/A
Swiss-ProtVAR_016133Polymorphismp.THR277LYSN/A
Swiss-ProtVAR_012970Polymorphismp.THR485LYSN/A
Swiss-ProtVAR_012972Polymorphismp.THR597SERN/A



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