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Results for the Protein: NP_000526
4505913

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
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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 ↕
MutLCOG03238.3e-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 ↕
dbSNPrs10254120 Polymorphismp.ARG20GLNN/A
dbSNPrs17420802 Polymorphismp.ASN775SERN/A
dbSNPrs3209663 Polymorphismp.GLU41LYSN/A
dbSNPrs1802683 Polymorphismp.GLY857ALAN/A
dbSNPrs2228006 Polymorphismp.LYS541GLUN/A
dbSNPrs1805321 Polymorphismp.PRO470SERN/A
dbSNPrs1805323 Polymorphismp.THR485LYSN/A
dbSNPrs74902811 Polymorphismp.THR511METN/A
OMIM600259.0001 Diseasep.ARG134TERMISMATCH REPAIR CANCER SYNDROME
OMIM600259.0009 Diseasep.ARG628TERCOLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4
OMIM600259.0004 Diseasep.ARG802TERMISMATCH REPAIR CANCER SYNDROME
OMIM600259.0016 Diseasep.CYS73TERMISMATCH REPAIR CANCER SYNDROME
OMIM600259.0012 Diseasep.SER46ILEMISMATCH REPAIR CANCER SYNDROME||COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4, INCLUDED



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