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Results for the Protein: NP_001245200
384871676

DNA mismatch repair protein Mlh1 isoform 4 [Homo sapiens]

Known Diseases associated with this Protein:
  COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 2
  COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 2, INCLUDED
  COLORECTAL CANCER, SPORADIC, SUSCEPTIBILITY TO
  MISMATCH REPAIR CANCER SYNDROME
  MISMATCH REPAIR CANCER SYNDROME, INCLUDED
  RECLASSIFIED - VARIANT OF UNKNOWN SIGNIFICANCE
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Tips:
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Default View:

MutL - COG0323
HATPase_c - cd00075
MutL_Trans_MLH3 - cd03486
MutL_Trans_hPMS_1_li - cd03485
MutL_Trans_hPMS_2_li - cd03484
MutL_Trans_MLH1 - cd03483
MutL_Trans - cd00782
TopoII_MutL_Trans - cd00329
DNA_mis_repair - pfam01119
MutL_Trans_MutL - cd03482




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
MutLCOG03237.7e-1145687
HATPase_ccd000752.7e-1828154
MutL_Trans_MLH1cd034836.4e-90211335
MutL_Trans_hPMS_2_licd034842.7e-10211335
MutL_Trans_hPMS_1_licd034853.4e-06211335
MutL_Trans_MLH3cd034860.0004211335
TopoII_MutL_Transcd003296.7e-29212315
MutL_Transcd007829.5e-49212334
MutL_Trans_MutLcd034825.9e-07216335
DNA_mis_repairpfam011191.9e-47216334

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
OMIM120436.0030 Diseasep.ARG265CYSCOLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 2
OMIM120436.0010 Diseasep.ARG226TERCOLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 2||MISMATCH REPAIR CANCER SYNDROME, INCLUDED
OMIM120436.0019 Diseasep.ASP132HISCOLORECTAL CANCER, SPORADIC, SUSCEPTIBILITY TO
OMIM120436.0013 Diseasep.GLU578GLYCOLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 2
OMIM120436.0029 Diseasep.GLY67GLUCOLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 2
OMIM120436.0011 Diseasep.GLY67TRPCOLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 2||MISMATCH REPAIR CANCER SYNDROME, INCLUDED
OMIM120436.0008 Diseasep.HIS329PROCOLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 2
OMIM120436.0034 Diseasep.LEU73ARGMISMATCH REPAIR CANCER SYNDROME
OMIM120436.0033 Diseasep.LEU622HISCOLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 2
OMIM120436.0012 Diseasep.LYS618ALARECLASSIFIED - VARIANT OF UNKNOWN SIGNIFICANCE
OMIM120436.0028 Diseasep.MET35ASNMISMATCH REPAIR CANCER SYNDROME||COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 2, INCLUDED
OMIM120436.0002 Diseasep.SER44PHECOLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 2
OMIM120436.0001 Diseasep.SER252TERCOLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 2
OMIM120436.0021 Diseasep.SER269TERCOLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 2
OMIM120436.0017 Diseasep.THR117METCOLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 2



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