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Results for the Protein: NP_001161089
263191589

DNA mismatch repair protein Mlh1 isoform 2 [Homo sapiens]

Known Diseases associated with this Protein:
  COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 2
  COLORECTAL CANCER, SPORADIC, SUSCEPTIBILITY TO
  MISMATCH REPAIR CANCER SYNDROME, INCLUDED
  RECLASSIFIED - VARIANT OF UNKNOWN SIGNIFICANCE
12
3
12
3
0
Tips:
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Default View:

MutL - COG0323
MutL_Trans_MLH3 - cd03486
MutL_Trans_hPMS_2_li - cd03484
MutL_Trans_hPMS_1_li - cd03485
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 ↕
MutLCOG03232.4e-121658
MutL_Trans_MLH1cd034836.4e-90113237
MutL_Trans_hPMS_1_licd034853.4e-06113237
MutL_Trans_MLH3cd034860.0004113237
MutL_Trans_hPMS_2_licd034842.7e-10113237
TopoII_MutL_Transcd003296.7e-29114217
MutL_Transcd007829.5e-49114236
MutL_Trans_MutLcd034825.9e-07118237
DNA_mis_repairpfam011191.9e-47118236

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs2020873 Polymorphismp.HIS620TYRN/A
dbSNPrs1799977 Polymorphismp.ILE121LEUN/A
dbSNPrs2308317 Polymorphismp.VAL115METN/A
OMIM120436.0022 Diseasep.ALA583THRCOLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 2
OMIM120436.0030 Diseasep.ARG167CYSCOLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 2
OMIM120436.0010 Diseasep.ARG128TERCOLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 2||MISMATCH REPAIR CANCER SYNDROME, INCLUDED
OMIM120436.0019 Diseasep.ASP34HISCOLORECTAL CANCER, SPORADIC, SUSCEPTIBILITY TO
OMIM120436.0013 Diseasep.GLU480GLYCOLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 2
OMIM120436.0008 Diseasep.HIS231PROCOLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 2
OMIM120436.0033 Diseasep.LEU524HISCOLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 2
OMIM120436.0012 Diseasep.LYS520ALARECLASSIFIED - VARIANT OF UNKNOWN SIGNIFICANCE
OMIM120436.0020 Diseasep.PRO550SERCOLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 2||MISMATCH REPAIR CANCER SYNDROME, INCLUDED
OMIM120436.0001 Diseasep.SER154TERCOLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 2
OMIM120436.0021 Diseasep.SER171TERCOLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 2
OMIM120436.0017 Diseasep.THR19METCOLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 2



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