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Results for the Protein: NP_001245202
384871681

DNA mismatch repair protein Mlh1 isoform 3 [Homo sapiens]

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

DNA_mis_repair - pfam01119
TopoII_MutL_Trans - cd00329
MutL_Trans_MLH1 - cd03483
MutL_Trans - cd00782
MutL_Trans_MutL - cd03482
MutL_Trans_hPMS_2_li - cd03484




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
TopoII_MutL_Transcd003291.1e-06174
MutL_Transcd007824.6e-24193
MutL_Trans_MLH1cd034831.6e-55194
MutL_Trans_MutLcd034820.0003294
MutL_Trans_hPMS_2_licd034846.4e-05694
DNA_mis_repairpfam011192.7e-19193

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
OMIM120436.0022 Diseasep.ALA440THRCOLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 2
OMIM120436.0030 Diseasep.ARG24CYSCOLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 2
OMIM120436.0013 Diseasep.GLU337GLYCOLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 2
OMIM120436.0008 Diseasep.HIS88PROCOLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 2
OMIM120436.0033 Diseasep.LEU381HISCOLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 2
OMIM120436.0012 Diseasep.LYS377ALARECLASSIFIED - VARIANT OF UNKNOWN SIGNIFICANCE
OMIM120436.0020 Diseasep.PRO407SERCOLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 2||MISMATCH REPAIR CANCER SYNDROME, INCLUDED
OMIM120436.0001 Diseasep.SER11TERCOLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 2
OMIM120436.0021 Diseasep.SER28TERCOLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 2



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