Results for the protein: P40692

Results for the Protein: P40692

730028

4292

MLH1

NCBI, UniProt

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

75

17

3

139

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Default View:	Swiss-Prot Protein: P40692 Identical to: NP_000240 Default View:

Domains found on the Protein

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

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_054533	Polymorphism	p.ALA539ASP	N/A
Swiss-Prot	VAR_043419	Disease	p.ALA589ASP	Hereditary non-polyposis colorectal cancer 2 (HNPCC2)
Swiss-Prot	VAR_043403	Disease	p.ALA282GLY	Hereditary non-polyposis colorectal cancer 2 (HNPCC2)
Swiss-Prot	VAR_012908	Disease	p.ALA128PRO	Hereditary non-polyposis colorectal cancer 2 (HNPCC2)
Swiss-Prot	VAR_015689	Disease	p.ALA586PRO	Hereditary non-polyposis colorectal cancer 2 (HNPCC2)
Swiss-Prot	VAR_054535	Polymorphism	p.ALA619PRO	N/A
Swiss-Prot	VAR_043425	Polymorphism	p.ALA623PRO	N/A
Swiss-Prot	VAR_043386	Polymorphism	p.ALA29SER	N/A
Swiss-Prot	VAR_012920	Disease	p.ALA441THR	Hereditary non-polyposis colorectal cancer 2 (HNPCC2)
Swiss-Prot	VAR_004455	Disease	p.ALA492THR	Hereditary non-polyposis colorectal cancer 2 (HNPCC2)
Swiss-Prot	VAR_004466	Polymorphism	p.ALA681THR	N/A
Swiss-Prot	VAR_012907	Polymorphism	p.ALA111VAL	N/A
Swiss-Prot	VAR_043384	Disease	p.ALA21VAL	Hereditary non-polyposis colorectal cancer 2 (HNPCC2)
Swiss-Prot	VAR_022663	Disease	p.ARG18CYS	Hereditary non-polyposis colorectal cancer 2 (HNPCC2)
Swiss-Prot	VAR_004449	Polymorphism	p.ARG217CYS	N/A
Swiss-Prot	VAR_054530	Polymorphism	p.ARG265CYS	N/A
Swiss-Prot	VAR_043410	Polymorphism	p.ARG385CYS	N/A
Swiss-Prot	VAR_012917	Polymorphism	p.ARG325GLN	N/A
Swiss-Prot	VAR_043414	Polymorphism	p.ARG474GLN	N/A
Swiss-Prot	VAR_043434	Polymorphism	p.ARG659GLN	N/A
Swiss-Prot	VAR_012909	Disease	p.ARG182GLY	Hereditary non-polyposis colorectal cancer 2 (HNPCC2)
Swiss-Prot	VAR_020469	Polymorphism	p.ARG217GLY	N/A
Swiss-Prot	VAR_012914	Polymorphism	p.ARG265HIS	N/A
Swiss-Prot	VAR_043413	Polymorphism	p.ARG472ILE	N/A
Swiss-Prot	VAR_004451	Disease	p.ARG226LEU	Hereditary non-polyposis colorectal cancer 2 (HNPCC2)
Swiss-Prot	VAR_012929	Disease	p.ARG659LEU	Hereditary non-polyposis colorectal cancer 2 (HNPCC2)
Swiss-Prot	VAR_022666	Disease	p.ARG182LYS	Hereditary non-polyposis colorectal cancer 2 (HNPCC2)
Swiss-Prot	VAR_004441	Disease	p.ARG69LYS	Hereditary non-polyposis colorectal cancer 2 (HNPCC2)
Swiss-Prot	VAR_043411	Polymorphism	p.ARG385PRO	N/A
Swiss-Prot	VAR_004465	Disease	p.ARG659PRO	Hereditary non-polyposis colorectal cancer 2 (HNPCC2)
Swiss-Prot	VAR_054532	Polymorphism	p.ARG474TRP	N/A
Swiss-Prot	VAR_012931	Polymorphism	p.ARG687TRP	N/A
Swiss-Prot	VAR_012935	Polymorphism	p.ARG755TRP	N/A
Swiss-Prot	VAR_043389	Disease	p.ASN38HIS	Hereditary non-polyposis colorectal cancer 2 (HNPCC2)
Swiss-Prot	VAR_043427	Polymorphism	p.ASN635LYS	N/A
Swiss-Prot	VAR_054527	Polymorphism	p.ASN215SER	N/A
Swiss-Prot	VAR_043409	Disease	p.ASN338SER	Hereditary non-polyposis colorectal cancer 2 (HNPCC2)
Swiss-Prot	VAR_004438	Disease	p.ASN64SER	Hereditary non-polyposis colorectal cancer 2 (HNPCC2)
Swiss-Prot	VAR_012922	Disease	p.ASN551THR	Hereditary non-polyposis colorectal cancer 2 (HNPCC2)
Swiss-Prot	VAR_043426	Polymorphism	p.ASP631ALA	N/A
Swiss-Prot	VAR_043415	Disease	p.ASP485GLU	Hereditary non-polyposis colorectal cancer 2 (HNPCC2)
Swiss-Prot	VAR_043392	Disease	p.ASP63GLU	Hereditary non-polyposis colorectal cancer 2 (HNPCC2)
Swiss-Prot	VAR_043390	Disease	p.ASP41GLY	Hereditary non-polyposis colorectal cancer 2 (HNPCC2)
Swiss-Prot	VAR_043421	Polymorphism	p.ASP601GLY	N/A
Swiss-Prot	VAR_022665	Polymorphism	p.ASP132HIS	N/A
Swiss-Prot	VAR_054522	Polymorphism	p.ASP41HIS	N/A
Swiss-Prot	VAR_043416	Polymorphism	p.ASP485HIS	N/A
Swiss-Prot	VAR_043405	Disease	p.ASP304VAL	Hereditary non-polyposis colorectal cancer 2 (HNPCC2)
Swiss-Prot	VAR_004442	Disease	p.CYS77ARG	Hereditary non-polyposis colorectal cancer 2 (HNPCC2)
Swiss-Prot	VAR_012904	Polymorphism	p.CYS77TYR	N/A
Swiss-Prot	VAR_012932	Polymorphism	p.GLN689ARG	N/A
Swiss-Prot	VAR_004457	Disease	p.GLN542LEU	Hereditary non-polyposis colorectal cancer 2 (HNPCC2)
Swiss-Prot	VAR_004437	Disease	p.GLN62LYS	Hereditary non-polyposis colorectal cancer 2 (HNPCC2)
Swiss-Prot	VAR_043417	Disease	p.GLN542PRO	Hereditary non-polyposis colorectal cancer 2 (HNPCC2)
Swiss-Prot	VAR_054531	Polymorphism	p.GLU320ASP	N/A
Swiss-Prot	VAR_043399	Polymorphism	p.GLU234GLY	N/A
Swiss-Prot	VAR_012915	Polymorphism	p.GLU268GLY	N/A
Swiss-Prot	VAR_004459	Disease	p.GLU578GLY	Hereditary non-polyposis colorectal cancer 2 (HNPCC2)
Swiss-Prot	VAR_043394	Polymorphism	p.GLU102LYS	N/A
Swiss-Prot	VAR_038023	Polymorphism	p.GLY22ALA	N/A
Swiss-Prot	VAR_004439	Disease	p.GLY67ARG	Hereditary non-polyposis colorectal cancer 2 (HNPCC2)
Swiss-Prot	VAR_022664	Disease	p.GLY101ASP	Hereditary non-polyposis colorectal cancer 2 (HNPCC2)
Swiss-Prot	VAR_012911	Disease	p.GLY244ASP	Hereditary non-polyposis colorectal cancer 2 (HNPCC2)
Swiss-Prot	VAR_012902	Polymorphism	p.GLY54GLU	N/A
Swiss-Prot	VAR_038024	Polymorphism	p.GLY67GLU	N/A
Swiss-Prot	VAR_054524	Polymorphism	p.GLY101SER	N/A
Swiss-Prot	VAR_054523	Polymorphism	p.GLY98SER	N/A
Swiss-Prot	VAR_012903	Disease	p.GLY67TRP	Hereditary non-polyposis colorectal cancer 2 (HNPCC2)
Swiss-Prot	VAR_012912	Polymorphism	p.GLY244VAL	N/A
Swiss-Prot	VAR_043396	Polymorphism	p.HIS109GLN	N/A
Swiss-Prot	VAR_012918	Disease	p.HIS329PRO	Hereditary non-polyposis colorectal cancer 2 (HNPCC2)
Swiss-Prot	VAR_043402	Disease	p.HIS264TYR	Hereditary non-polyposis colorectal cancer 2 (HNPCC2)
dbSNP	rs2020873	Polymorphism	p.HIS718TYR	N/A
Swiss-Prot	VAR_004444	Disease	p.ILE107ARG	Hereditary non-polyposis colorectal cancer 2 (HNPCC2)
Swiss-Prot	VAR_004440	Disease	p.ILE68ASN	Hereditary non-polyposis colorectal cancer 2 (HNPCC2)
dbSNP	rs1799977	Polymorphism	p.ILE219LEU	N/A
Swiss-Prot	VAR_043383	Polymorphism	p.ILE19PHE	N/A
Swiss-Prot	VAR_043385	Disease	p.ILE25PHE	Hereditary non-polyposis colorectal cancer 2 (HNPCC2)
Swiss-Prot	VAR_012923	Disease	p.ILE565PHE	Hereditary non-polyposis colorectal cancer 2 (HNPCC2)
Swiss-Prot	VAR_054528	Polymorphism	p.ILE216SER	N/A
Swiss-Prot	VAR_004450	Polymorphism	p.ILE219VAL	N/A
Swiss-Prot	VAR_014876	Polymorphism	p.ILE32VAL	N/A
Swiss-Prot	VAR_043432	Polymorphism	p.ILE655VAL	N/A
Swiss-Prot	VAR_043397	Disease	p.LEU155ARG	Hereditary non-polyposis colorectal cancer 2 (HNPCC2)
Swiss-Prot	VAR_043401	Polymorphism	p.LEU260ARG	N/A
Swiss-Prot	VAR_022668	Disease	p.LEU559ARG	Hereditary non-polyposis colorectal cancer 2 (HNPCC2)
Swiss-Prot	VAR_054534	Polymorphism	p.LEU585ARG	N/A
Swiss-Prot	VAR_012926	Polymorphism	p.LEU607HIS	N/A
Swiss-Prot	VAR_012927	Disease	p.LEU622HIS	Hereditary non-polyposis colorectal cancer 2 (HNPCC2)
Swiss-Prot	VAR_043436	Disease	p.LEU724MET	Hereditary non-polyposis colorectal cancer 2 (HNPCC2)
Swiss-Prot	VAR_054529	Polymorphism	p.LEU260PHE	N/A
Swiss-Prot	VAR_043404	Polymorphism	p.LEU292PRO	N/A
Swiss-Prot	VAR_012921	Disease	p.LEU549PRO	Hereditary non-polyposis colorectal cancer 2 (HNPCC2)
Swiss-Prot	VAR_043418	Disease	p.LEU550PRO	Hereditary non-polyposis colorectal cancer 2 (HNPCC2)
Swiss-Prot	VAR_004458	Disease	p.LEU574PRO	Hereditary non-polyposis colorectal cancer 2 (HNPCC2)
Swiss-Prot	VAR_012924	Disease	p.LEU588PRO	Hereditary non-polyposis colorectal cancer 2 (HNPCC2)
Swiss-Prot	VAR_043428	Disease	p.LEU636PRO	Hereditary non-polyposis colorectal cancer 2 (HNPCC2)
Swiss-Prot	VAR_043437	Polymorphism	p.LEU749PRO	N/A
Swiss-Prot	VAR_004460	Disease	p.LEU582VAL	Hereditary non-polyposis colorectal cancer 2 (HNPCC2)
Swiss-Prot	VAR_004468	Polymorphism	p.LEU729VAL	N/A
Swiss-Prot	VAR_004462	Polymorphism	p.LYS618ALA	N/A
Swiss-Prot	VAR_043424	Polymorphism	p.LYS618ARG	N/A
Swiss-Prot	VAR_012934	Polymorphism	p.LYS751ARG	N/A
Swiss-Prot	VAR_043412	Polymorphism	p.LYS443GLN	N/A
Swiss-Prot	VAR_012906	Disease	p.LYS84GLU	Hereditary non-polyposis colorectal cancer 2 (HNPCC2)
Swiss-Prot	VAR_004463	Disease	p.LYS618THR	Hereditary non-polyposis colorectal cancer 2 (HNPCC2)
Swiss-Prot	VAR_004434	Disease	p.MET35ARG	Hereditary non-polyposis colorectal cancer 2 (HNPCC2)
Swiss-Prot	VAR_043388	Disease	p.MET35ASN	Mismatch repair cancer syndrome (MMRCS)
Swiss-Prot	VAR_043387	Polymorphism	p.MET35LYS	N/A
Swiss-Prot	VAR_054537	Polymorphism	p.PHE656SER	N/A
Swiss-Prot	VAR_012905	Disease	p.PHE80VAL	Hereditary non-polyposis colorectal cancer 2 (HNPCC2)
Swiss-Prot	VAR_012925	Polymorphism	p.PRO603ARG	N/A
Swiss-Prot	VAR_004433	Disease	p.PRO28LEU	Hereditary non-polyposis colorectal cancer 2 (HNPCC2)
Swiss-Prot	VAR_054536	Polymorphism	p.PRO640LEU	N/A
Swiss-Prot	VAR_012928	Disease	p.PRO648LEU	Hereditary non-polyposis colorectal cancer 2 (HNPCC2)
Swiss-Prot	VAR_043431	Disease	p.PRO654LEU	Hereditary non-polyposis colorectal cancer 2 (HNPCC2)
Swiss-Prot	VAR_038025	Polymorphism	p.PRO309SER	N/A
Swiss-Prot	VAR_043429	Disease	p.PRO640SER	Hereditary non-polyposis colorectal cancer 2 (HNPCC2)
Swiss-Prot	VAR_022669	Disease	p.PRO648SER	Hereditary non-polyposis colorectal cancer 2 (HNPCC2)
Swiss-Prot	VAR_043395	Polymorphism	p.SER106ARG	N/A
Swiss-Prot	VAR_012919	Polymorphism	p.SER406ASN	N/A
Swiss-Prot	VAR_004443	Polymorphism	p.SER93GLY	N/A
Swiss-Prot	VAR_043406	Polymorphism	p.SER321ILE	N/A
Swiss-Prot	VAR_004436	Disease	p.SER44PHE	Hereditary non-polyposis colorectal cancer 2 (HNPCC2)
Swiss-Prot	VAR_004448	Disease	p.SER193PRO	Hereditary non-polyposis colorectal cancer 2 (HNPCC2)
Swiss-Prot	VAR_043400	Disease	p.SER247PRO	Hereditary non-polyposis colorectal cancer 2 (HNPCC2)
Swiss-Prot	VAR_012916	Disease	p.SER295THR	Hereditary non-polyposis colorectal cancer 2 (HNPCC2)
Swiss-Prot	VAR_004446	Disease	p.THR117ARG	Hereditary non-polyposis colorectal cancer 2 (HNPCC2)
Swiss-Prot	VAR_054525	Polymorphism	p.THR116LYS	N/A
Swiss-Prot	VAR_004445	Disease	p.THR117MET	Hereditary non-polyposis colorectal cancer 2 (HNPCC2)
Swiss-Prot	VAR_012930	Polymorphism	p.THR662PRO	N/A
Swiss-Prot	VAR_054538	Polymorphism	p.TRP666ARG	N/A
Swiss-Prot	VAR_054526	Polymorphism	p.TYR126ASN	N/A
Swiss-Prot	VAR_022667	Disease	p.TYR379CYS	Hereditary non-polyposis colorectal cancer 2 (HNPCC2)
Swiss-Prot	VAR_043430	Polymorphism	p.TYR646CYS	N/A
Swiss-Prot	VAR_004453	Disease	p.VAL326ALA	Hereditary non-polyposis colorectal cancer 2 (HNPCC2)
Swiss-Prot	VAR_004456	Disease	p.VAL506ALA	Hereditary non-polyposis colorectal cancer 2 (HNPCC2)
Swiss-Prot	VAR_004454	Polymorphism	p.VAL384ASP	N/A
Swiss-Prot	VAR_004447	Disease	p.VAL185GLY	Hereditary non-polyposis colorectal cancer 2 (HNPCC2)
Swiss-Prot	VAR_043398	Polymorphism	p.VAL185LEU	N/A
dbSNP	rs2308317	Polymorphism	p.VAL213MET	N/A
Swiss-Prot	VAR_012933	Polymorphism	p.VAL716MET	N/A
OMIM	120436.0022	Disease	p.ALA681THR	COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 2
OMIM	120436.0030	Disease	p.ARG265CYS	COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 2
OMIM	120436.0010	Disease	p.ARG226TER	COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 2\|\|MISMATCH REPAIR CANCER SYNDROME, INCLUDED
OMIM	120436.0019	Disease	p.ASP132HIS	COLORECTAL CANCER, SPORADIC, SUSCEPTIBILITY TO
OMIM	120436.0013	Disease	p.GLU578GLY	COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 2
OMIM	120436.0029	Disease	p.GLY67GLU	COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 2
OMIM	120436.0011	Disease	p.GLY67TRP	COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 2\|\|MISMATCH REPAIR CANCER SYNDROME, INCLUDED
OMIM	120436.0008	Disease	p.HIS329PRO	COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 2
OMIM	120436.0034	Disease	p.LEU73ARG	MISMATCH REPAIR CANCER SYNDROME
OMIM	120436.0033	Disease	p.LEU622HIS	COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 2
OMIM	120436.0012	Disease	p.LYS618ALA	RECLASSIFIED - VARIANT OF UNKNOWN SIGNIFICANCE
OMIM	120436.0028	Disease	p.MET35ASN	MISMATCH REPAIR CANCER SYNDROME\|\|COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 2, INCLUDED
OMIM	120436.0020	Disease	p.PRO648SER	COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 2\|\|MISMATCH REPAIR CANCER SYNDROME, INCLUDED
OMIM	120436.0002	Disease	p.SER44PHE	COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 2
OMIM	120436.0001	Disease	p.SER252TER	COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 2
OMIM	120436.0021	Disease	p.SER269TER	COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 2
OMIM	120436.0017	Disease	p.THR117MET	COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 2

Please Cite: Peterson, T.A., Adadey, A., Santana-Cruz ,I., Sun, Y., Winder A, Kann, M.G., (2010) DMDM: Domain Mapping of Disease Mutations. Bioinformatics 26 (19), 2458-2459.

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