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Results for the Protein: P40692
730028

MLH1_HUMAN RecName: Full=DNA mismatch repair protein Mlh1; AltName: Full=MutL protein homolog 1

Known Diseases associated with this Protein:
  COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 2
  COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 2, INCLUDED
  COLORECTAL CANCER, SPORADIC, SUSCEPTIBILITY TO
  HEREDITARY NON-POLYPOSIS COLORECTAL CANCER 2 (HNPCC2)
  MISMATCH REPAIR CANCER SYNDROME
  MISMATCH REPAIR CANCER SYNDROME (MMRCS)
  MISMATCH REPAIR CANCER SYNDROME, INCLUDED
  RECLASSIFIED - VARIANT OF UNKNOWN SIGNIFICANCE
84
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17
3
139
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Swiss-Prot Protein: P40692
Identical to: NP_000240
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Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
NO_DOMAIN_FOUND00

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_054533Polymorphismp.ALA539ASPN/A
Swiss-ProtVAR_043419Diseasep.ALA589ASPHereditary non-polyposis colorectal cancer 2 (HNPCC2)
Swiss-ProtVAR_043403Diseasep.ALA282GLYHereditary non-polyposis colorectal cancer 2 (HNPCC2)
Swiss-ProtVAR_012908Diseasep.ALA128PROHereditary non-polyposis colorectal cancer 2 (HNPCC2)
Swiss-ProtVAR_015689Diseasep.ALA586PROHereditary non-polyposis colorectal cancer 2 (HNPCC2)
Swiss-ProtVAR_054535Polymorphismp.ALA619PRON/A
Swiss-ProtVAR_043425Polymorphismp.ALA623PRON/A
Swiss-ProtVAR_043386Polymorphismp.ALA29SERN/A
Swiss-ProtVAR_012920Diseasep.ALA441THRHereditary non-polyposis colorectal cancer 2 (HNPCC2)
Swiss-ProtVAR_004455Diseasep.ALA492THRHereditary non-polyposis colorectal cancer 2 (HNPCC2)
Swiss-ProtVAR_004466Polymorphismp.ALA681THRN/A
Swiss-ProtVAR_012907Polymorphismp.ALA111VALN/A
Swiss-ProtVAR_043384Diseasep.ALA21VALHereditary non-polyposis colorectal cancer 2 (HNPCC2)
Swiss-ProtVAR_022663Diseasep.ARG18CYSHereditary non-polyposis colorectal cancer 2 (HNPCC2)
Swiss-ProtVAR_004449Polymorphismp.ARG217CYSN/A
Swiss-ProtVAR_054530Polymorphismp.ARG265CYSN/A
Swiss-ProtVAR_043410Polymorphismp.ARG385CYSN/A
Swiss-ProtVAR_012917Polymorphismp.ARG325GLNN/A
Swiss-ProtVAR_043414Polymorphismp.ARG474GLNN/A
Swiss-ProtVAR_043434Polymorphismp.ARG659GLNN/A
Swiss-ProtVAR_012909Diseasep.ARG182GLYHereditary non-polyposis colorectal cancer 2 (HNPCC2)
Swiss-ProtVAR_020469Polymorphismp.ARG217GLYN/A
Swiss-ProtVAR_012914Polymorphismp.ARG265HISN/A
Swiss-ProtVAR_043413Polymorphismp.ARG472ILEN/A
Swiss-ProtVAR_004451Diseasep.ARG226LEUHereditary non-polyposis colorectal cancer 2 (HNPCC2)
Swiss-ProtVAR_012929Diseasep.ARG659LEUHereditary non-polyposis colorectal cancer 2 (HNPCC2)
Swiss-ProtVAR_022666Diseasep.ARG182LYSHereditary non-polyposis colorectal cancer 2 (HNPCC2)
Swiss-ProtVAR_004441Diseasep.ARG69LYSHereditary non-polyposis colorectal cancer 2 (HNPCC2)
Swiss-ProtVAR_043411Polymorphismp.ARG385PRON/A
Swiss-ProtVAR_004465Diseasep.ARG659PROHereditary non-polyposis colorectal cancer 2 (HNPCC2)
Swiss-ProtVAR_054532Polymorphismp.ARG474TRPN/A
Swiss-ProtVAR_012931Polymorphismp.ARG687TRPN/A
Swiss-ProtVAR_012935Polymorphismp.ARG755TRPN/A
Swiss-ProtVAR_043389Diseasep.ASN38HISHereditary non-polyposis colorectal cancer 2 (HNPCC2)
Swiss-ProtVAR_043427Polymorphismp.ASN635LYSN/A
Swiss-ProtVAR_054527Polymorphismp.ASN215SERN/A
Swiss-ProtVAR_043409Diseasep.ASN338SERHereditary non-polyposis colorectal cancer 2 (HNPCC2)
Swiss-ProtVAR_004438Diseasep.ASN64SERHereditary non-polyposis colorectal cancer 2 (HNPCC2)
Swiss-ProtVAR_012922Diseasep.ASN551THRHereditary non-polyposis colorectal cancer 2 (HNPCC2)
Swiss-ProtVAR_043426Polymorphismp.ASP631ALAN/A
Swiss-ProtVAR_043415Diseasep.ASP485GLUHereditary non-polyposis colorectal cancer 2 (HNPCC2)
Swiss-ProtVAR_043392Diseasep.ASP63GLUHereditary non-polyposis colorectal cancer 2 (HNPCC2)
Swiss-ProtVAR_043390Diseasep.ASP41GLYHereditary non-polyposis colorectal cancer 2 (HNPCC2)
Swiss-ProtVAR_043421Polymorphismp.ASP601GLYN/A
Swiss-ProtVAR_022665Polymorphismp.ASP132HISN/A
Swiss-ProtVAR_054522Polymorphismp.ASP41HISN/A
Swiss-ProtVAR_043416Polymorphismp.ASP485HISN/A
Swiss-ProtVAR_043405Diseasep.ASP304VALHereditary non-polyposis colorectal cancer 2 (HNPCC2)
Swiss-ProtVAR_004442Diseasep.CYS77ARGHereditary non-polyposis colorectal cancer 2 (HNPCC2)
Swiss-ProtVAR_012904Polymorphismp.CYS77TYRN/A
Swiss-ProtVAR_012932Polymorphismp.GLN689ARGN/A
Swiss-ProtVAR_004457Diseasep.GLN542LEUHereditary non-polyposis colorectal cancer 2 (HNPCC2)
Swiss-ProtVAR_004437Diseasep.GLN62LYSHereditary non-polyposis colorectal cancer 2 (HNPCC2)
Swiss-ProtVAR_043417Diseasep.GLN542PROHereditary non-polyposis colorectal cancer 2 (HNPCC2)
Swiss-ProtVAR_054531Polymorphismp.GLU320ASPN/A
Swiss-ProtVAR_043399Polymorphismp.GLU234GLYN/A
Swiss-ProtVAR_012915Polymorphismp.GLU268GLYN/A
Swiss-ProtVAR_004459Diseasep.GLU578GLYHereditary non-polyposis colorectal cancer 2 (HNPCC2)
Swiss-ProtVAR_043394Polymorphismp.GLU102LYSN/A
Swiss-ProtVAR_038023Polymorphismp.GLY22ALAN/A
Swiss-ProtVAR_004439Diseasep.GLY67ARGHereditary non-polyposis colorectal cancer 2 (HNPCC2)
Swiss-ProtVAR_022664Diseasep.GLY101ASPHereditary non-polyposis colorectal cancer 2 (HNPCC2)
Swiss-ProtVAR_012911Diseasep.GLY244ASPHereditary non-polyposis colorectal cancer 2 (HNPCC2)
Swiss-ProtVAR_012902Polymorphismp.GLY54GLUN/A
Swiss-ProtVAR_038024Polymorphismp.GLY67GLUN/A
Swiss-ProtVAR_054524Polymorphismp.GLY101SERN/A
Swiss-ProtVAR_054523Polymorphismp.GLY98SERN/A
Swiss-ProtVAR_012903Diseasep.GLY67TRPHereditary non-polyposis colorectal cancer 2 (HNPCC2)
Swiss-ProtVAR_012912Polymorphismp.GLY244VALN/A
Swiss-ProtVAR_043396Polymorphismp.HIS109GLNN/A
Swiss-ProtVAR_012918Diseasep.HIS329PROHereditary non-polyposis colorectal cancer 2 (HNPCC2)
Swiss-ProtVAR_043402Diseasep.HIS264TYRHereditary non-polyposis colorectal cancer 2 (HNPCC2)
dbSNPrs2020873 Polymorphismp.HIS718TYRN/A
Swiss-ProtVAR_004444Diseasep.ILE107ARGHereditary non-polyposis colorectal cancer 2 (HNPCC2)
Swiss-ProtVAR_004440Diseasep.ILE68ASNHereditary non-polyposis colorectal cancer 2 (HNPCC2)
dbSNPrs1799977 Polymorphismp.ILE219LEUN/A
Swiss-ProtVAR_043383Polymorphismp.ILE19PHEN/A
Swiss-ProtVAR_043385Diseasep.ILE25PHEHereditary non-polyposis colorectal cancer 2 (HNPCC2)
Swiss-ProtVAR_012923Diseasep.ILE565PHEHereditary non-polyposis colorectal cancer 2 (HNPCC2)
Swiss-ProtVAR_054528Polymorphismp.ILE216SERN/A
Swiss-ProtVAR_004450Polymorphismp.ILE219VALN/A
Swiss-ProtVAR_014876Polymorphismp.ILE32VALN/A
Swiss-ProtVAR_043432Polymorphismp.ILE655VALN/A
Swiss-ProtVAR_043397Diseasep.LEU155ARGHereditary non-polyposis colorectal cancer 2 (HNPCC2)
Swiss-ProtVAR_043401Polymorphismp.LEU260ARGN/A
Swiss-ProtVAR_022668Diseasep.LEU559ARGHereditary non-polyposis colorectal cancer 2 (HNPCC2)
Swiss-ProtVAR_054534Polymorphismp.LEU585ARGN/A
Swiss-ProtVAR_012926Polymorphismp.LEU607HISN/A
Swiss-ProtVAR_012927Diseasep.LEU622HISHereditary non-polyposis colorectal cancer 2 (HNPCC2)
Swiss-ProtVAR_043436Diseasep.LEU724METHereditary non-polyposis colorectal cancer 2 (HNPCC2)
Swiss-ProtVAR_054529Polymorphismp.LEU260PHEN/A
Swiss-ProtVAR_043404Polymorphismp.LEU292PRON/A
Swiss-ProtVAR_012921Diseasep.LEU549PROHereditary non-polyposis colorectal cancer 2 (HNPCC2)
Swiss-ProtVAR_043418Diseasep.LEU550PROHereditary non-polyposis colorectal cancer 2 (HNPCC2)
Swiss-ProtVAR_004458Diseasep.LEU574PROHereditary non-polyposis colorectal cancer 2 (HNPCC2)
Swiss-ProtVAR_012924Diseasep.LEU588PROHereditary non-polyposis colorectal cancer 2 (HNPCC2)
Swiss-ProtVAR_043428Diseasep.LEU636PROHereditary non-polyposis colorectal cancer 2 (HNPCC2)
Swiss-ProtVAR_043437Polymorphismp.LEU749PRON/A
Swiss-ProtVAR_004460Diseasep.LEU582VALHereditary non-polyposis colorectal cancer 2 (HNPCC2)
Swiss-ProtVAR_004468Polymorphismp.LEU729VALN/A
Swiss-ProtVAR_004462Polymorphismp.LYS618ALAN/A
Swiss-ProtVAR_043424Polymorphismp.LYS618ARGN/A
Swiss-ProtVAR_012934Polymorphismp.LYS751ARGN/A
Swiss-ProtVAR_043412Polymorphismp.LYS443GLNN/A
Swiss-ProtVAR_012906Diseasep.LYS84GLUHereditary non-polyposis colorectal cancer 2 (HNPCC2)
Swiss-ProtVAR_004463Diseasep.LYS618THRHereditary non-polyposis colorectal cancer 2 (HNPCC2)
Swiss-ProtVAR_004434Diseasep.MET35ARGHereditary non-polyposis colorectal cancer 2 (HNPCC2)
Swiss-ProtVAR_043388Diseasep.MET35ASNMismatch repair cancer syndrome (MMRCS)
Swiss-ProtVAR_043387Polymorphismp.MET35LYSN/A
Swiss-ProtVAR_054537Polymorphismp.PHE656SERN/A
Swiss-ProtVAR_012905Diseasep.PHE80VALHereditary non-polyposis colorectal cancer 2 (HNPCC2)
Swiss-ProtVAR_012925Polymorphismp.PRO603ARGN/A
Swiss-ProtVAR_004433Diseasep.PRO28LEUHereditary non-polyposis colorectal cancer 2 (HNPCC2)
Swiss-ProtVAR_054536Polymorphismp.PRO640LEUN/A
Swiss-ProtVAR_012928Diseasep.PRO648LEUHereditary non-polyposis colorectal cancer 2 (HNPCC2)
Swiss-ProtVAR_043431Diseasep.PRO654LEUHereditary non-polyposis colorectal cancer 2 (HNPCC2)
Swiss-ProtVAR_038025Polymorphismp.PRO309SERN/A
Swiss-ProtVAR_043429Diseasep.PRO640SERHereditary non-polyposis colorectal cancer 2 (HNPCC2)
Swiss-ProtVAR_022669Diseasep.PRO648SERHereditary non-polyposis colorectal cancer 2 (HNPCC2)
Swiss-ProtVAR_043395Polymorphismp.SER106ARGN/A
Swiss-ProtVAR_012919Polymorphismp.SER406ASNN/A
Swiss-ProtVAR_004443Polymorphismp.SER93GLYN/A
Swiss-ProtVAR_043406Polymorphismp.SER321ILEN/A
Swiss-ProtVAR_004436Diseasep.SER44PHEHereditary non-polyposis colorectal cancer 2 (HNPCC2)
Swiss-ProtVAR_004448Diseasep.SER193PROHereditary non-polyposis colorectal cancer 2 (HNPCC2)
Swiss-ProtVAR_043400Diseasep.SER247PROHereditary non-polyposis colorectal cancer 2 (HNPCC2)
Swiss-ProtVAR_012916Diseasep.SER295THRHereditary non-polyposis colorectal cancer 2 (HNPCC2)
Swiss-ProtVAR_004446Diseasep.THR117ARGHereditary non-polyposis colorectal cancer 2 (HNPCC2)
Swiss-ProtVAR_054525Polymorphismp.THR116LYSN/A
Swiss-ProtVAR_004445Diseasep.THR117METHereditary non-polyposis colorectal cancer 2 (HNPCC2)
Swiss-ProtVAR_012930Polymorphismp.THR662PRON/A
Swiss-ProtVAR_054538Polymorphismp.TRP666ARGN/A
Swiss-ProtVAR_054526Polymorphismp.TYR126ASNN/A
Swiss-ProtVAR_022667Diseasep.TYR379CYSHereditary non-polyposis colorectal cancer 2 (HNPCC2)
Swiss-ProtVAR_043430Polymorphismp.TYR646CYSN/A
Swiss-ProtVAR_004453Diseasep.VAL326ALAHereditary non-polyposis colorectal cancer 2 (HNPCC2)
Swiss-ProtVAR_004456Diseasep.VAL506ALAHereditary non-polyposis colorectal cancer 2 (HNPCC2)
Swiss-ProtVAR_004454Polymorphismp.VAL384ASPN/A
Swiss-ProtVAR_004447Diseasep.VAL185GLYHereditary non-polyposis colorectal cancer 2 (HNPCC2)
Swiss-ProtVAR_043398Polymorphismp.VAL185LEUN/A
dbSNPrs2308317 Polymorphismp.VAL213METN/A
Swiss-ProtVAR_012933Polymorphismp.VAL716METN/A
OMIM120436.0022 Diseasep.ALA681THRCOLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 2
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
OMIM120436.0020 Diseasep.PRO648SERCOLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 2||MISMATCH REPAIR CANCER SYNDROME, 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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