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Results for the Protein: P52701
68067672

MSH6_HUMAN RecName: Full=DNA mismatch repair protein Msh6; Short=hMSH6; AltName: Full=G/T mismatch-binding protein; Short=GTBP; Short=GTMBP; AltName: Full=MutS-alpha 160 kDa subunit; Short=p160

Known Diseases associated with this Protein:
  COLON CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5
  COLON CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5, INCLUDED
  HEREDITARY NON-POLYPOSIS COLORECTAL CANCER 5 (HNPCC5)
  MISMATCH REPAIR CANCER SYNDROME
5
67
2
2
68
Tips:
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Default View:

MSH6_like - cd05837
HDGF_related - cd05834
PWWP - pfam00855
MUM1_like - cd06080
N_Pac_NP60 - cd05836
SPBC215_ISWI_like - cd05840
Dnmt3b_related - cd05835
PWWP - smart00293
BR140_related - cd05839
PWWP - cd05162
BS69_related - cd05841
MutS - COG0249
MutS_I - pfam01624
MutS_II - pfam05188
MutS_III - pfam05192
MUTSd - smart00533
MutS_IV - pfam05190
MutS_V - pfam00488
ABC_MSH3_euk - cd03287
ABC_MutS1 - cd03284
ABC_MSH5_euk - cd03281
ABC_MutS_homologs - cd03243
ABC_Class2 - cd03227
ABC_ATPase - cd00267
ABC_MutS2 - cd03280
ABC_MSH4_euk - cd03282
ABC_MSH6_euk - cd03286
ABC_MSH2_euk - cd03285
ABC_MutS-like - cd03283
MUTSac - smart00534


Swiss-Prot Protein: P52701
Identical to: NP_000170
   Default View:
















Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
MSH6_likecd058371.3e-6088195
PWWPcd051623.4e-3990182
Dnmt3b_relatedcd058353.6e-0790183
BR140_relatedcd058392.1e-0690185
SPBC215_ISWI_likecd058400.0002790182
N_Pac_NP60cd058365.8e-0790176
MUM1_likecd060802.4e-0590173
BS69_relatedcd058410.000491175
MutSCOG02491.8e-1584011358
ABC_MSH3_eukcd032877.5e-7810891316
ABC_ATPasecd002675.4e-0810901288
ABC_Class2cd032271.9e-1410901288
ABC_MutS_homologscd032432.5e-8610901308
ABC_MSH5_eukcd032814.3e-4810901308
ABC_MSH4_eukcd032826.6e-4310901308
ABC_MutS-likecd032831.1e-1710901308
ABC_MSH2_eukcd032852.3e-7210901324
ABC_MSH6_eukcd032862e-12710901316
ABC_MutS2cd032803.5e-1810901308
ABC_MutS1cd032845.9e-8110901320
PWWPpfam008551.1e-3489162
MutS_Ipfam016243.5e-55407526
MutS_IIpfam051881.4e-06537704
MutS_IVpfam051908.1e-279321024
MutS_Vpfam004881.7e-10610741326
PWWPsmart002931.9e-2790152
MutS_IIIpfam051923.1e-177301069
MUTSdsmart005334.3e-1247551102
MUTSacsmart005345.2e-11811291320

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_043963Polymorphismp.ALA1021ASPN/A
Swiss-ProtVAR_067294Polymorphismp.ALA25SERN/A
Swiss-ProtVAR_043943Diseasep.ALA20VALHereditary non-polyposis colorectal cancer 5 (HNPCC5)
Swiss-ProtVAR_038033Polymorphismp.ALA25VALN/A
Swiss-ProtVAR_067295Polymorphismp.ALA326VALN/A
Swiss-ProtVAR_043959Polymorphismp.ALA787VALN/A
Swiss-ProtVAR_043965Polymorphismp.ARG1076CYSN/A
Swiss-ProtVAR_043957Polymorphismp.ARG772GLNN/A
Swiss-ProtVAR_038041Polymorphismp.ARG1321GLYN/A
Swiss-ProtVAR_043966Polymorphismp.ARG1095HISN/A
Swiss-ProtVAR_038035Polymorphismp.ARG468HISN/A
Swiss-ProtVAR_043962Polymorphismp.ARG901HISN/A
Swiss-ProtVAR_012965Polymorphismp.ARG976HISN/A
Swiss-ProtVAR_043946Polymorphismp.ARG128LEUN/A
Swiss-ProtVAR_043958Diseasep.ARG772TRPHereditary non-polyposis colorectal cancer 5 (HNPCC5)
Swiss-ProtVAR_012962Polymorphismp.ASP803GLYN/A
Swiss-ProtVAR_067297Polymorphismp.ASP1026TYRN/A
Swiss-ProtVAR_043964Polymorphismp.ASP1031VALN/A
Swiss-ProtVAR_004491Polymorphismp.ASP1213VALN/A
Swiss-ProtVAR_043968Polymorphismp.CYS1158ARGN/A
Swiss-ProtVAR_043951Polymorphismp.GLN522ARGN/A
Swiss-ProtVAR_012960Polymorphismp.GLN698GLUN/A
Swiss-ProtVAR_012956Polymorphismp.GLU220ASPN/A
Swiss-ProtVAR_042274Polymorphismp.GLU221ASPN/A
Swiss-ProtVAR_043952Polymorphismp.GLU619ASPN/A
Swiss-ProtVAR_038040Polymorphismp.GLU1234GLNN/A
Swiss-ProtVAR_043970Polymorphismp.GLU1193LYSN/A
Swiss-ProtVAR_043969Diseasep.GLU1163VALHereditary non-polyposis colorectal cancer 5 (HNPCC5)
Swiss-ProtVAR_043944Polymorphismp.GLY54ALAN/A
Swiss-ProtVAR_043954Polymorphismp.GLY685ALAN/A
Swiss-ProtVAR_012959Polymorphismp.GLY566ARGN/A
dbSNPrs1042821 Polymorphismp.GLY39GLUN/A
Swiss-ProtVAR_043972Polymorphismp.HIS1248ASPN/A
Swiss-ProtVAR_043955Polymorphismp.ILE725METN/A
Swiss-ProtVAR_014902Polymorphismp.ILE886VALN/A
Swiss-ProtVAR_043974Polymorphismp.LEU1354GLNN/A
Swiss-ProtVAR_068710Polymorphismp.LEU435PRON/A
Swiss-ProtVAR_043949Polymorphismp.LEU449PRON/A
Swiss-ProtVAR_068711Polymorphismp.LEU585PRON/A
Swiss-ProtVAR_012958Polymorphismp.LEU396VALN/A
Swiss-ProtVAR_043947Polymorphismp.LYS295ARGN/A
Swiss-ProtVAR_067296Polymorphismp.LYS610ASNN/A
Swiss-ProtVAR_043945Polymorphismp.LYS99ASNN/A
Swiss-ProtVAR_043961Polymorphismp.LYS854METN/A
Swiss-ProtVAR_038032Polymorphismp.LYS13THRN/A
Swiss-ProtVAR_043956Polymorphismp.LYS728THRN/A
Swiss-ProtVAR_042275Polymorphismp.MET492VALN/A
Swiss-ProtVAR_043948Polymorphismp.PHE340SERN/A
Swiss-ProtVAR_029244Polymorphismp.PRO623ALAN/A
Swiss-ProtVAR_043953Polymorphismp.PRO623LEUN/A
Swiss-ProtVAR_067298Polymorphismp.PRO1087SERN/A
Swiss-ProtVAR_012966Polymorphismp.PRO1087THRN/A
Swiss-ProtVAR_038036Polymorphismp.SER503CYSN/A
Swiss-ProtVAR_012955Polymorphismp.SER144ILEN/A
Swiss-ProtVAR_012957Polymorphismp.SER285ILEN/A
Swiss-ProtVAR_038038Polymorphismp.SER580LEUN/A
Swiss-ProtVAR_038034Polymorphismp.SER65LEUN/A
Swiss-ProtVAR_068712Polymorphismp.SER677THRN/A
Swiss-ProtVAR_043971Polymorphismp.THR1219ILEN/A
Swiss-ProtVAR_043967Polymorphismp.THR1100METN/A
Swiss-ProtVAR_067299Polymorphismp.THR1225METN/A
Swiss-ProtVAR_043973Polymorphismp.THR1284METN/A
Swiss-ProtVAR_012963Polymorphismp.TYR850CYSN/A
Swiss-ProtVAR_038037Polymorphismp.TYR538SERN/A
Swiss-ProtVAR_043950Polymorphismp.VAL509ALAN/A
Swiss-ProtVAR_043960Polymorphismp.VAL800ALAN/A
dbSNPrs2020912 Polymorphismp.VAL878ALAN/A
Swiss-ProtVAR_004492Polymorphismp.VAL1260ILEN/A
Swiss-ProtVAR_038039Polymorphismp.VAL1232LEUN/A
Swiss-ProtVAR_012961Polymorphismp.VAL800LEUN/A
OMIM600678.0012 Diseasep.TRP1024TERMISMATCH REPAIR CANCER SYNDROME||COLON CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5, INCLUDED
OMIM600678.0006 Diseasep.VAL878ALACOLON CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5



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