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Results for the Protein: Q9UHC1
317373417

MLH3_HUMAN RecName: Full=DNA mismatch repair protein Mlh3; AltName: Full=MutL protein homolog 3

Known Diseases associated with this Protein:
  COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 7
  COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 7, INCLUDED
  ENDOMETRIAL CANCER
  HEREDITARY NON-POLYPOSIS COLORECTAL CANCER 7 (HNPCC7)
  RECLASSIFIED - VARIANT OF UNKNOWN SIGNIFICANCE
15
21
6
3
27
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Default View:

MutL - COG0323
HATPase_c - pfam02518
HATPase_c - cd00075
MutL_Trans_hPMS_2_li - cd03484
MutL_Trans_MLH3 - cd03486
TopoII_MutL_Trans - cd00329
MutL_Trans - cd00782
DNA_mis_repair - pfam01119
MutL_C - smart00853
MutL_C - pfam08676


Swiss-Prot Protein: Q9UHC1
Identical to: NP_001035197
   Default View:








Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
HATPase_ccd000756.6e-0522150
MutL_Trans_hPMS_2_licd034845e-05206349
MutL_Trans_MLH3cd034865.1e-82206349
TopoII_MutL_Transcd003291.4e-11207329
MutL_Transcd007824.6e-34207348
HATPase_cpfam025184.7e-0517158
DNA_mis_repairpfam011199e-05211348
MutL_Csmart008537e-3711881361
MutL_Cpfam086761.2e-0711891372

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_012953Diseasep.ALA1394THRHereditary non-polyposis colorectal cancer 7 (HNPCC7)
Swiss-ProtVAR_012949Diseasep.ARG647CYSHereditary non-polyposis colorectal cancer 7 (HNPCC7)
Swiss-ProtVAR_023343Polymorphismp.ARG600GLNN/A
Swiss-ProtVAR_023338Polymorphismp.ARG93GLYN/A
Swiss-ProtVAR_023348Polymorphismp.ARG797HISN/A
Swiss-ProtVAR_036781Polymorphismp.ASN826ASPN/A
Swiss-ProtVAR_012952Diseasep.ASN1007SERHereditary non-polyposis colorectal cancer 7 (HNPCC7)
Swiss-ProtVAR_012947Diseasep.ASN499SERHereditary non-polyposis colorectal cancer 7 (HNPCC7)
Swiss-ProtVAR_023353Polymorphismp.ASP1073ASNN/A
Swiss-ProtVAR_023354Polymorphismp.ASP1105GLUN/A
Swiss-ProtVAR_012946Diseasep.GLN24GLUHereditary non-polyposis colorectal cancer 7 (HNPCC7)
Swiss-ProtVAR_012948Diseasep.GLU624GLNHereditary non-polyposis colorectal cancer 7 (HNPCC7)
Swiss-ProtVAR_012954Diseasep.GLU1451LYSHereditary non-polyposis colorectal cancer 7 (HNPCC7)
Swiss-ProtVAR_023356Polymorphismp.GLY1319ARGN/A
Swiss-ProtVAR_023355Polymorphismp.GLY1163ASPN/A
Swiss-ProtVAR_012951Diseasep.GLY981SERHereditary non-polyposis colorectal cancer 7 (HNPCC7)
Swiss-ProtVAR_010790Polymorphismp.HIS494ARGN/A
Swiss-ProtVAR_023342Polymorphismp.LEU492VALN/A
Swiss-ProtVAR_023340Polymorphismp.LYS231GLNN/A
Swiss-ProtVAR_023339Polymorphismp.PHE120SERN/A
Swiss-ProtVAR_023349Polymorphismp.PRO844LEUN/A
Swiss-ProtVAR_012950Diseasep.SER817GLYHereditary non-polyposis colorectal cancer 7 (HNPCC7)
Swiss-ProtVAR_023350Polymorphismp.SER845GLYN/A
Swiss-ProtVAR_023352Polymorphismp.SER966PRON/A
Swiss-ProtVAR_023351Polymorphismp.THR942ILEN/A
Swiss-ProtVAR_023344Polymorphismp.THR606PRON/A
dbSNPrs28756988 Polymorphismp.TYR720CYSN/A
dbSNPrs28756982 Polymorphismp.VAL420ILEN/A
Swiss-ProtVAR_023346Polymorphismp.VAL723ILEN/A
dbSNPrs28756990 Polymorphismp.VAL741PHEN/A
OMIM604395.0003 Diseasep.ASN499SERRECLASSIFIED - VARIANT OF UNKNOWN SIGNIFICANCE
OMIM604395.0002 Diseasep.GLN24GLURECLASSIFIED - VARIANT OF UNKNOWN SIGNIFICANCE
OMIM604395.0004 Diseasep.GLU624GLNRECLASSIFIED - VARIANT OF UNKNOWN SIGNIFICANCE
OMIM604395.0005 Diseasep.GLU1451LYSRECLASSIFIED - VARIANT OF UNKNOWN SIGNIFICANCE
OMIM604395.0008 Diseasep.TRP1276ARGCOLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 7
OMIM604395.0007 Diseasep.VAL741PHEENDOMETRIAL CANCER||COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 7, INCLUDED



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