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Entry version 227 (16 Oct 2019)
Sequence version 2 (21 Jun 2005)
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Protein

DNA mismatch repair protein Msh6

Gene

MSH6

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Component of the post-replicative DNA mismatch repair system (MMR). Heterodimerizes with MSH2 to form MutS alpha, which binds to DNA mismatches thereby initiating DNA repair. When bound, MutS alpha bends the DNA helix and shields approximately 20 base pairs, and recognizes single base mismatches and dinucleotide insertion-deletion loops (IDL) in the DNA. After mismatch binding, forms a ternary complex with the MutL alpha heterodimer, which is thought to be responsible for directing the downstream MMR events, including strand discrimination, excision, and resynthesis. ATP binding and hydrolysis play a pivotal role in mismatch repair functions. The ATPase activity associated with MutS alpha regulates binding similar to a molecular switch: mismatched DNA provokes ADP-->ATP exchange, resulting in a discernible conformational transition that converts MutS alpha into a sliding clamp capable of hydrolysis-independent diffusion along the DNA backbone. This transition is crucial for mismatch repair. MutS alpha may also play a role in DNA homologous recombination repair. Recruited on chromatin in G1 and early S phase via its PWWP domain that specifically binds trimethylated 'Lys-36' of histone H3 (H3K36me3): early recruitment to chromatin to be replicated allowing a quick identification of mismatch repair to initiate the DNA mismatch repair reaction.8 Publications

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section describes a region in the protein which binds nucleotide phosphates. It always involves more than one amino acid and includes all residues involved in nucleotide-binding.<p><a href='/help/np_bind' target='_top'>More...</a></p>Nucleotide bindingi1134 – 1141ATPSequence analysis8

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionDNA-binding
Biological processDNA damage, DNA repair, Host-virus interaction
LigandATP-binding, Nucleotide-binding

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-5358565 Mismatch repair (MMR) directed by MSH2:MSH6 (MutSalpha)
R-HSA-5632928 Defective Mismatch Repair Associated With MSH2
R-HSA-5632968 Defective Mismatch Repair Associated With MSH6

SIGNOR Signaling Network Open Resource

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SIGNORi
P52701

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
DNA mismatch repair protein Msh6By similarity
Short name:
hMSH61 Publication
Alternative name(s):
G/T mismatch-binding protein1 Publication
Short name:
GTBP1 Publication
Short name:
GTMBPBy similarity
MutS protein homolog 6Imported
MutS-alpha 160 kDa subunit
Short name:
p1601 Publication
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:MSH6Imported
Synonyms:GTBP
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 2

Organism-specific databases

Human Gene Nomenclature Database

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HGNCi
HGNC:7329 MSH6

Online Mendelian Inheritance in Man (OMIM)

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MIMi
600678 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_P52701

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Keywords - Cellular componenti

Chromosome, Nucleus

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Hereditary non-polyposis colorectal cancer 5 (HNPCC5)9 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal dominant disease associated with marked increase in cancer susceptibility. It is characterized by a familial predisposition to early-onset colorectal carcinoma (CRC) and extra-colonic tumors of the gastrointestinal, urological and female reproductive tracts. HNPCC is reported to be the most common form of inherited colorectal cancer in the Western world. Clinically, HNPCC is often divided into two subgroups. Type I is characterized by hereditary predisposition to colorectal cancer, a young age of onset, and carcinoma observed in the proximal colon. Type II is characterized by increased risk for cancers in certain tissues such as the uterus, ovary, breast, stomach, small intestine, skin, and larynx in addition to the colon. Diagnosis of classical HNPCC is based on the Amsterdam criteria: 3 or more relatives affected by colorectal cancer, one a first degree relative of the other two; 2 or more generation affected; 1 or more colorectal cancers presenting before 50 years of age; exclusion of hereditary polyposis syndromes. The term 'suspected HNPCC' or 'incomplete HNPCC' can be used to describe families who do not or only partially fulfill the Amsterdam criteria, but in whom a genetic basis for colon cancer is strongly suspected.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_04394320A → V in HNPCC5, CRC and ENDMC; unknown pathological significance; normal mismatch repair activity. 2 PublicationsCorresponds to variant dbSNP:rs63750664EnsemblClinVar.1
Natural variantiVAR_06729425A → S in HNPCC5; unknown pathological significance; normal mismatch repair activity. 1 PublicationCorresponds to variant dbSNP:rs267608026EnsemblClinVar.1
Natural variantiVAR_043946128R → L in HNPCC5; unknown pathological significance; no impairment of heterodimerization with MSH2; normal mismatch repair activity. 2 PublicationsCorresponds to variant dbSNP:rs63750143EnsemblClinVar.1
Natural variantiVAR_012955144S → I in HNPCC5 and CRC; unknown pathological significance; normal mismatch repair activity. 4 PublicationsCorresponds to variant dbSNP:rs3211299EnsemblClinVar.1
Natural variantiVAR_067295326A → V in HNPCC5; unknown pathological significance; normal mismatch repair activity. 1 PublicationCorresponds to variant dbSNP:rs587779323EnsemblClinVar.1
Natural variantiVAR_012958396L → V in HNPCC5; unknown pathological significance; normal mismatch repair activity. 3 PublicationsCorresponds to variant dbSNP:rs2020908EnsemblClinVar.1
Natural variantiVAR_042275492M → V in HNPCC5; unknown pathological significance; normal mismatch repair activity. 3 PublicationsCorresponds to variant dbSNP:rs61754783EnsemblClinVar.1
Natural variantiVAR_038036503S → C in HNPCC5; unknown pathological significance; normal mismatch repair activity. 2 PublicationsCorresponds to variant dbSNP:rs63750897EnsemblClinVar.1
Natural variantiVAR_012959566G → R in CRC and HNPCC5; decreased mismatch repair activity; loss of protein expression. 2 PublicationsCorresponds to variant dbSNP:rs63749973EnsemblClinVar.1
Natural variantiVAR_067296610K → N in HNPCC5; unknown pathological significance; normal mismatch repair activity. 1 PublicationCorresponds to variant dbSNP:rs201735525EnsemblClinVar.1
Natural variantiVAR_043953623P → L in HNPCC5; unknown pathological significance; no impairment of heterodimerization with MSH2; normal mismatch repair activity. 2 PublicationsCorresponds to variant dbSNP:rs63750462EnsemblClinVar.1
Natural variantiVAR_043956728K → T in HNPCC5; unknown pathological significance; no impairment of heterodimerization with MSH2; normal mismatch repair activity. 2 PublicationsCorresponds to variant dbSNP:rs35552856EnsemblClinVar.1
Natural variantiVAR_043958772R → W in HNPCC5. 1 PublicationCorresponds to variant dbSNP:rs63750138EnsemblClinVar.1
Natural variantiVAR_012963850Y → C in HNPCC5 and CRC; unknown pathological significance; normal mismatch repair activity. 3 PublicationsCorresponds to variant dbSNP:rs63750389EnsemblClinVar.1
Natural variantiVAR_012964878V → A in HNPCC5, CRC and ENDMC; unknown pathological significance; normal mismatch repair activity. 9 PublicationsCorresponds to variant dbSNP:rs2020912EnsemblClinVar.1
Natural variantiVAR_076356881G → KS in HNPCC5; unknown pathological significance; normal mismatch repair activity. 1 Publication1
Natural variantiVAR_0672971026D → Y in HNPCC5; unknown pathological significance; normal mismatch repair activity. 1 PublicationCorresponds to variant dbSNP:rs267608054EnsemblClinVar.1
Natural variantiVAR_0672981087P → S in HNPCC5; unknown pathological significance; normal mismatch repair activity. 1 PublicationCorresponds to variant dbSNP:rs63750998EnsemblClinVar.1
Natural variantiVAR_0129661087P → T in CRC and HNPCC5; unknown pathological significance. 2 PublicationsCorresponds to variant dbSNP:rs63750998EnsemblClinVar.1
Natural variantiVAR_0439661095R → H in CRC and HNPCC5; unknown pathological significance; normal mismatch repair activity. 3 PublicationsCorresponds to variant dbSNP:rs63750253EnsemblClinVar.1
Natural variantiVAR_0439691163E → V in HNPCC5. 1 PublicationCorresponds to variant dbSNP:rs63750252EnsemblClinVar.1
Natural variantiVAR_0439701193E → K in HNPCC5; decreased mismatch repair activity; displays marked impairment of heterodimerization with MSH2. 2 PublicationsCorresponds to variant dbSNP:rs63751328EnsemblClinVar.1
Natural variantiVAR_0672991225T → M in HNPCC5; unknown pathological significance; normal mismatch repair activity. 1 PublicationCorresponds to variant dbSNP:rs63750370EnsemblClinVar.1
Natural variantiVAR_0439741354L → Q in CRC and HNPCC5; unknown pathological significance; normal mismatch repair activity. 3 PublicationsCorresponds to variant dbSNP:rs267608140EnsemblClinVar.1
Endometrial cancer (ENDMC)2 Publications
Disease susceptibility is associated with variations affecting the gene represented in this entry.
Disease descriptionA malignancy of endometrium, the mucous lining of the uterus. Most endometrial cancers are adenocarcinomas, cancers that begin in cells that make and release mucus and other fluids.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_04394320A → V in HNPCC5, CRC and ENDMC; unknown pathological significance; normal mismatch repair activity. 2 PublicationsCorresponds to variant dbSNP:rs63750664EnsemblClinVar.1
Natural variantiVAR_043949449L → P in CRC and ENDMC; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs63750741EnsemblClinVar.1
Natural variantiVAR_012964878V → A in HNPCC5, CRC and ENDMC; unknown pathological significance; normal mismatch repair activity. 9 PublicationsCorresponds to variant dbSNP:rs2020912EnsemblClinVar.1
Natural variantiVAR_043962901R → H in CRC and ENDMC; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs63749889EnsemblClinVar.1
Mismatch repair cancer syndrome (MMRCS)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive, rare, childhood cancer predisposition syndrome encompassing a broad tumor spectrum. This includes hematological malignancies, central nervous system tumors, Lynch syndrome-associated malignancies such as colorectal tumors as well as multiple intestinal polyps, embryonic tumors and rhabdomyosarcoma. Multiple cafe-au-lait macules, a feature reminiscent of neurofibromatosis type 1, are often found as first manifestation of the underlying cancer. Areas of skin hypopigmentation have also been reported in MMRCS patients.
Related information in OMIM
Colorectal cancer (CRC)12 Publications
Disease susceptibility is associated with variations affecting the gene represented in this entry.
Disease descriptionA complex disease characterized by malignant lesions arising from the inner wall of the large intestine (the colon) and the rectum. Genetic alterations are often associated with progression from premalignant lesion (adenoma) to invasive adenocarcinoma. Risk factors for cancer of the colon and rectum include colon polyps, long-standing ulcerative colitis, and genetic family history.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_04394454G → A in CRC; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs63751098EnsemblClinVar.1
Natural variantiVAR_04394599K → N in CRC; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs63751258EnsemblClinVar.1
Natural variantiVAR_012955144S → I in HNPCC5 and CRC; unknown pathological significance; normal mismatch repair activity. 4 PublicationsCorresponds to variant dbSNP:rs3211299EnsemblClinVar.1
Natural variantiVAR_012957285S → I in CRC; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs63750878EnsemblClinVar.1
Natural variantiVAR_043948340F → S in CRC, breast cancer and leukemia; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs61753793EnsemblClinVar.1
Natural variantiVAR_043949449L → P in CRC and ENDMC; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs63750741EnsemblClinVar.1
Natural variantiVAR_043951522Q → R in CRC; unknown pathological significance; normal mismatch repair activity. 2 PublicationsCorresponds to variant dbSNP:rs63751009EnsemblClinVar.1
Natural variantiVAR_012959566G → R in CRC and HNPCC5; decreased mismatch repair activity; loss of protein expression. 2 PublicationsCorresponds to variant dbSNP:rs63749973EnsemblClinVar.1
Natural variantiVAR_043952619E → D in CRC; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs63751121EnsemblClinVar.1
Natural variantiVAR_043954685G → A in CRC; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs63750358EnsemblClinVar.1
Natural variantiVAR_043955725I → M in CRC; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs63750304EnsemblClinVar.1
Natural variantiVAR_043957772R → Q in CRC; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs63750725EnsemblClinVar.1
Natural variantiVAR_043959787A → V in CRC; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs63750637EnsemblClinVar.1
Natural variantiVAR_043960800V → A in CRC; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs63750895Ensembl.1
Natural variantiVAR_012962803D → G in CRC; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs63751450EnsemblClinVar.1
Natural variantiVAR_012963850Y → C in HNPCC5 and CRC; unknown pathological significance; normal mismatch repair activity. 3 PublicationsCorresponds to variant dbSNP:rs63750389EnsemblClinVar.1
Natural variantiVAR_043961854K → M in CRC; unknown pathological significance. 2 PublicationsCorresponds to variant dbSNP:rs34374438EnsemblClinVar.1
Natural variantiVAR_043962901R → H in CRC and ENDMC; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs63749889EnsemblClinVar.1
Natural variantiVAR_012965976R → H in CRC; sporadic; unknown pathological significance; normal mismatch repair activity. 2 PublicationsCorresponds to variant dbSNP:rs63751113EnsemblClinVar.1
Natural variantiVAR_0439631021A → D in CRC; unknown pathological significance; normal mismatch repair activity. 2 PublicationsCorresponds to variant dbSNP:rs63750287EnsemblClinVar.1
Natural variantiVAR_0439641031D → V in CRC; unknown pathological significance; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs63750804Ensembl.1
Natural variantiVAR_0439651076R → C in CRC; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs63750617EnsemblClinVar.1
Natural variantiVAR_0129661087P → T in CRC and HNPCC5; unknown pathological significance. 2 PublicationsCorresponds to variant dbSNP:rs63750998EnsemblClinVar.1
Natural variantiVAR_0439661095R → H in CRC and HNPCC5; unknown pathological significance; normal mismatch repair activity. 3 PublicationsCorresponds to variant dbSNP:rs63750253EnsemblClinVar.1
Natural variantiVAR_0439671100T → M in CRC; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs63750442EnsemblClinVar.1
Natural variantiVAR_0439681158C → R in CRC; unknown pathological significance; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs63750157Ensembl.1
Natural variantiVAR_0439711219T → I in CRC; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs63750949EnsemblClinVar.1
Natural variantiVAR_0439721248H → D in CRC; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs63750882EnsemblClinVar.1
Natural variantiVAR_0439731284T → M in CRC; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs63750836EnsemblClinVar.1
Natural variantiVAR_0439741354L → Q in CRC and HNPCC5; unknown pathological significance; normal mismatch repair activity. 3 PublicationsCorresponds to variant dbSNP:rs267608140EnsemblClinVar.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi103Y → A: Abolishes binding to H3K36me3 and DNA mismatch repair activity. 1 Publication1
Mutagenesisi105 – 106WW → AA: Abolishes binding to H3K36me3 and DNA mismatch repair activity. 1 Publication2
Mutagenesisi1140K → R: No effect on mismatch binding, complete loss of DNA repair function when associated with MSH2 mutant R-675. 1 Publication1

Keywords - Diseasei

Disease mutation, Hereditary nonpolyposis colorectal cancer

Organism-specific databases

DisGeNET

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DisGeNETi
2956

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

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GeneReviewsi
MSH6

MalaCards human disease database

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MalaCardsi
MSH6
MIMi114500 phenotype
276300 phenotype
608089 phenotype
614350 phenotype

Open Targets

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OpenTargetsi
ENSG00000116062

Orphanet; a database dedicated to information on rare diseases and orphan drugs

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Orphaneti
252202 Constitutional mismatch repair deficiency syndrome
144 Lynch syndrome
587 Muir-Torre syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA184

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

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Pharosi
P52701

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

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BioMutai
MSH6

Domain mapping of disease mutations (DMDM)

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DMDMi
68067672

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00001152071 – 1360DNA mismatch repair protein Msh6Add BLAST1360

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei14PhosphoserineCombined sources1
Modified residuei41PhosphoserineCombined sources1
Modified residuei43PhosphoserineCombined sources1
Modified residuei70N6-acetyllysineCombined sources1
Modified residuei79PhosphoserineCombined sources1
Modified residuei91PhosphoserineCombined sources1
Modified residuei137PhosphoserineCombined sources1
Modified residuei200PhosphoserineCombined sources1
Modified residuei219PhosphoserineCombined sources1
Modified residuei227PhosphoserineCombined sources1
Modified residuei252PhosphoserineCombined sources1
Modified residuei254PhosphoserineCombined sources1
Modified residuei256PhosphoserineCombined sources1
Modified residuei261PhosphoserineCombined sources1
Modified residuei269PhosphothreonineCombined sources1
Modified residuei274PhosphoserineCombined sources1
Modified residuei275PhosphoserineCombined sources1
Modified residuei279PhosphoserineCombined sources1
Modified residuei280PhosphoserineCombined sources1
Modified residuei309PhosphoserineCombined sources1
Modified residuei488PhosphothreonineCombined sources1
Modified residuei504N6-acetyllysineCombined sources1
Modified residuei830PhosphoserineCombined sources1
Modified residuei935PhosphoserineCombined sources1
Modified residuei1010PhosphothreonineCombined sources1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

The N-terminus is blocked.
Phosphorylated by PRKCZ, which may prevent MutS alpha degradation by the ubiquitin-proteasome pathway.1 Publication

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

The CPTAC Assay portal

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CPTACi
CPTAC-544

Encyclopedia of Proteome Dynamics

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EPDi
P52701

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
P52701

MassIVE - Mass Spectrometry Interactive Virtual Environment

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MassIVEi
P52701

MaxQB - The MaxQuant DataBase

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MaxQBi
P52701

PaxDb, a database of protein abundance averages across all three domains of life

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PaxDbi
P52701

PeptideAtlas

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PeptideAtlasi
P52701

PRoteomics IDEntifications database

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PRIDEi
P52701

ProteomicsDB: a multi-organism proteome resource

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ProteomicsDBi
25957
4004
56502 [P52701-1]
56503 [P52701-2]

PTM databases

CarbonylDB database of protein carbonylation sites

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CarbonylDBi
P52701

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
P52701

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

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PhosphoSitePlusi
P52701

SwissPalm database of S-palmitoylation events

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SwissPalmi
P52701

Miscellaneous databases

CutDB - Proteolytic event database

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PMAP-CutDBi
P52701

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000116062 Expressed in 233 organ(s), highest expression level in female gonad

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
P52701 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
P52701 HS

Organism-specific databases

Human Protein Atlas

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HPAi
CAB009091
CAB070870
HPA028376
HPA028446

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Component of the DNA mismatch repair (MMR) complex composed at least of MSH2, MSH3, MSH6, PMS1 and MLH1 (PubMed:26300262). Heterodimer consisting of MSH2-MSH6 (MutS alpha) (PubMed:8942985, PubMed:7604264).

Forms a ternary complex with MutL alpha (MLH1-PMS1).

Interacts with MCM9 (PubMed:26300262). Part of the BRCA1-associated genome surveillance complex (BASC), which contains BRCA1, MSH2, MSH6, MLH1, ATM, BLM, PMS2 and the RAD50-MRE11-NBS1 protein complex (PubMed:10783165). This association could be a dynamic process changing throughout the cell cycle and within subnuclear domains (PubMed:10783165).

4 Publications

(Microbial infection) Interacts with herpes simplex virus 1 protein UL12.

1 Publication

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

WithEntry#Exp.IntActNotes
MSH2P432467EBI-395529,EBI-355888

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
109211, 111 interactors

ComplexPortal: manually curated resource of macromolecular complexes

More...
ComplexPortali
CPX-80 DNA mismatch repair MutSalpha complex

CORUM comprehensive resource of mammalian protein complexes

More...
CORUMi
P52701

Database of interacting proteins

More...
DIPi
DIP-32972N

The Eukaryotic Linear Motif resource for Functional Sites in Proteins

More...
ELMi
P52701

Protein interaction database and analysis system

More...
IntActi
P52701, 51 interactors

Molecular INTeraction database

More...
MINTi
P52701

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000234420

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

11360
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...
SMRi
P52701

Database of comparative protein structure models

More...
ModBasei
Search...

Protein Data Bank in Europe - Knowledge Base

More...
PDBe-KBi
Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

More...
EvolutionaryTracei
P52701

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini92 – 154PWWPPROSITE-ProRule annotationAdd BLAST63

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi34 – 37Poly-Ala4
Compositional biasi201 – 209Poly-Glu9
Compositional biasi1118 – 1123Poly-Glu6

<p>This subsection of the ‘Family and domains’ section provides general information on the biological role of a domain. The term ‘domain’ is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>Domaini

The PWWP domain specifically recognizes and binds trimethylated 'Lys-36' of histone H3 (H3K36me3).1 Publication

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the DNA mismatch repair MutS family.Curated

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG0217 Eukaryota
COG0249 LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00550000075024

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000243127

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
P52701

KEGG Orthology (KO)

More...
KOi
K08737

Identification of Orthologs from Complete Genome Data

More...
OMAi
TPMMAQY

Database of Orthologous Groups

More...
OrthoDBi
853728at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
P52701

TreeFam database of animal gene trees

More...
TreeFami
TF105842

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...
Gene3Di
3.30.420.110, 1 hit
3.40.1170.10, 1 hit

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR007695 DNA_mismatch_repair_MutS-lik_N
IPR017261 DNA_mismatch_repair_MutS/MSH
IPR000432 DNA_mismatch_repair_MutS_C
IPR007861 DNA_mismatch_repair_MutS_clamp
IPR007696 DNA_mismatch_repair_MutS_core
IPR016151 DNA_mismatch_repair_MutS_N
IPR036187 DNA_mismatch_repair_MutS_sf
IPR007860 DNA_mmatch_repair_MutS_con_dom
IPR036678 MutS_con_dom_sf
IPR027417 P-loop_NTPase
IPR000313 PWWP_dom

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF01624 MutS_I, 1 hit
PF05188 MutS_II, 1 hit
PF05192 MutS_III, 1 hit
PF05190 MutS_IV, 1 hit
PF00488 MutS_V, 1 hit
PF00855 PWWP, 1 hit

PIRSF; a whole-protein classification database

More...
PIRSFi
PIRSF037677 DNA_mis_repair_Msh6, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00534 MUTSac, 1 hit
SM00533 MUTSd, 1 hit
SM00293 PWWP, 1 hit

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF48334 SSF48334, 1 hit
SSF52540 SSF52540, 1 hit
SSF55271 SSF55271, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS00486 DNA_MISMATCH_REPAIR_2, 1 hit
PS50812 PWWP, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (4+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 4 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 4 described isoforms and 8 potential isoforms that are computationally mapped.Show allAlign All

Isoform GTBP-N (identifier: P52701-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MSRQSTLYSF FPKSPALSDA NKASARASRE GGRAAAAPGA SPSPGGDAAW
60 70 80 90 100
SEAGPGPRPL ARSASPPKAK NLNGGLRRSV APAAPTSCDF SPGDLVWAKM
110 120 130 140 150
EGYPWWPCLV YNHPFDGTFI REKGKSVRVH VQFFDDSPTR GWVSKRLLKP
160 170 180 190 200
YTGSKSKEAQ KGGHFYSAKP EILRAMQRAD EALNKDKIKR LELAVCDEPS
210 220 230 240 250
EPEEEEEMEV GTTYVTDKSE EDNEIESEEE VQPKTQGSRR SSRQIKKRRV
260 270 280 290 300
ISDSESDIGG SDVEFKPDTK EEGSSDEISS GVGDSESEGL NSPVKVARKR
310 320 330 340 350
KRMVTGNGSL KRKSSRKETP SATKQATSIS SETKNTLRAF SAPQNSESQA
360 370 380 390 400
HVSGGGDDSS RPTVWYHETL EWLKEEKRRD EHRRRPDHPD FDASTLYVPE
410 420 430 440 450
DFLNSCTPGM RKWWQIKSQN FDLVICYKVG KFYELYHMDA LIGVSELGLV
460 470 480 490 500
FMKGNWAHSG FPEIAFGRYS DSLVQKGYKV ARVEQTETPE MMEARCRKMA
510 520 530 540 550
HISKYDRVVR REICRIITKG TQTYSVLEGD PSENYSKYLL SLKEKEEDSS
560 570 580 590 600
GHTRAYGVCF VDTSLGKFFI GQFSDDRHCS RFRTLVAHYP PVQVLFEKGN
610 620 630 640 650
LSKETKTILK SSLSCSLQEG LIPGSQFWDA SKTLRTLLEE EYFREKLSDG
660 670 680 690 700
IGVMLPQVLK GMTSESDSIG LTPGEKSELA LSALGGCVFY LKKCLIDQEL
710 720 730 740 750
LSMANFEEYI PLDSDTVSTT RSGAIFTKAY QRMVLDAVTL NNLEIFLNGT
760 770 780 790 800
NGSTEGTLLE RVDTCHTPFG KRLLKQWLCA PLCNHYAIND RLDAIEDLMV
810 820 830 840 850
VPDKISEVVE LLKKLPDLER LLSKIHNVGS PLKSQNHPDS RAIMYEETTY
860 870 880 890 900
SKKKIIDFLS ALEGFKVMCK IIGIMEEVAD GFKSKILKQV ISLQTKNPEG
910 920 930 940 950
RFPDLTVELN RWDTAFDHEK ARKTGLITPK AGFDSDYDQA LADIRENEQS
960 970 980 990 1000
LLEYLEKQRN RIGCRTIVYW GIGRNRYQLE IPENFTTRNL PEEYELKSTK
1010 1020 1030 1040 1050
KGCKRYWTKT IEKKLANLIN AEERRDVSLK DCMRRLFYNF DKNYKDWQSA
1060 1070 1080 1090 1100
VECIAVLDVL LCLANYSRGG DGPMCRPVIL LPEDTPPFLE LKGSRHPCIT
1110 1120 1130 1140 1150
KTFFGDDFIP NDILIGCEEE EQENGKAYCV LVTGPNMGGK STLMRQAGLL
1160 1170 1180 1190 1200
AVMAQMGCYV PAEVCRLTPI DRVFTRLGAS DRIMSGESTF FVELSETASI
1210 1220 1230 1240 1250
LMHATAHSLV LVDELGRGTA TFDGTAIANA VVKELAETIK CRTLFSTHYH
1260 1270 1280 1290 1300
SLVEDYSQNV AVRLGHMACM VENECEDPSQ ETITFLYKFI KGACPKSYGF
1310 1320 1330 1340 1350
NAARLANLPE EVIQKGHRKA REFEKMNQSL RLFREVCLAS ERSTVDAEAV
1360
HKLLTLIKEL
Length:1,360
Mass (Da):152,786
Last modified:June 21, 2005 - v2
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i4A4AA9F8ECB8FFE9
GO
Isoform GTBP-alt (identifier: P52701-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1058-1068: DVLLCLANYSR → GKTLNKLVLRL
     1069-1360: Missing.

Show »
Length:1,068
Mass (Da):120,563
Checksum:iE1E62571A314B51E
GO
Isoform 3 (identifier: P52701-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     80-209: Missing.

Note: No experimental confirmation available.
Show »
Length:1,230
Mass (Da):137,957
Checksum:iBDA2B64A2EA0D51F
GO
Isoform 4 (identifier: P52701-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-302: Missing.

Note: No experimental confirmation available.
Show »
Length:1,058
Mass (Da):119,796
Checksum:i3D50E59BEED4B837
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 8 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A087WYT6A0A087WYT6_HUMAN
DNA mismatch repair protein Msh6
MSH6
327Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A494C0M1A0A494C0M1_HUMAN
DNA mismatch repair protein
MSH6
1,261Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A087WWJ1A0A087WWJ1_HUMAN
DNA mismatch repair protein Msh6
MSH6
1,067Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
F8WAX8F8WAX8_HUMAN
DNA mismatch repair protein Msh6
MSH6
160Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
C9J7Y7C9J7Y7_HUMAN
DNA mismatch repair protein Msh6
MSH6
151Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
F8W7G9F8W7G9_HUMAN
DNA mismatch repair protein Msh6
MSH6
104Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
C9JH55C9JH55_HUMAN
DNA mismatch repair protein Msh6
MSH6
101Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
C9J8Y8C9J8Y8_HUMAN
DNA mismatch repair protein Msh6
MSH6
115Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti36 – 57AAPGA…AGPGP → GCPRGLSFPRRGCGLERGWA WA in BAA23674 (PubMed:9455487).CuratedAdd BLAST22
Sequence conflicti36 – 57AAPGA…AGPGP → GCPRGLSFPRRGCGLERGWA WA in BAA23675 (PubMed:9455487).CuratedAdd BLAST22
Sequence conflicti868M → V in BAG65496 (PubMed:14702039).Curated1
Sequence conflicti1358 – 1360KEL → D in AAL87401 (Ref. 4) Curated3

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_03803213K → T1 PublicationCorresponds to variant dbSNP:rs41294988EnsemblClinVar.1
Natural variantiVAR_04394320A → V in HNPCC5, CRC and ENDMC; unknown pathological significance; normal mismatch repair activity. 2 PublicationsCorresponds to variant dbSNP:rs63750664EnsemblClinVar.1
Natural variantiVAR_06729425A → S in HNPCC5; unknown pathological significance; normal mismatch repair activity. 1 PublicationCorresponds to variant dbSNP:rs267608026EnsemblClinVar.1
Natural variantiVAR_03803325A → V. Corresponds to variant dbSNP:rs35462442EnsemblClinVar.1
Natural variantiVAR_00449039G → ECombined sources5 PublicationsCorresponds to variant dbSNP:rs1042821EnsemblClinVar.1
Natural variantiVAR_04394454G → A in CRC; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs63751098EnsemblClinVar.1
Natural variantiVAR_03803465S → L1 PublicationCorresponds to variant dbSNP:rs41294984EnsemblClinVar.1
Natural variantiVAR_04394599K → N in CRC; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs63751258EnsemblClinVar.1
Natural variantiVAR_043946128R → L in HNPCC5; unknown pathological significance; no impairment of heterodimerization with MSH2; normal mismatch repair activity. 2 PublicationsCorresponds to variant dbSNP:rs63750143EnsemblClinVar.1
Natural variantiVAR_012955144S → I in HNPCC5 and CRC; unknown pathological significance; normal mismatch repair activity. 4 PublicationsCorresponds to variant dbSNP:rs3211299EnsemblClinVar.1
Natural variantiVAR_012956220E → D1 PublicationCorresponds to variant dbSNP:rs1800938EnsemblClinVar.1
Natural variantiVAR_042274221E → D1 PublicationCorresponds to variant dbSNP:rs41557217EnsemblClinVar.1
Natural variantiVAR_012957285S → I in CRC; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs63750878EnsemblClinVar.1
Natural variantiVAR_043947295K → R in multiple colorectal adenoma. Corresponds to variant dbSNP:rs267608051EnsemblClinVar.1
Natural variantiVAR_067295326A → V in HNPCC5; unknown pathological significance; normal mismatch repair activity. 1 PublicationCorresponds to variant dbSNP:rs587779323EnsemblClinVar.1
Natural variantiVAR_043948340F → S in CRC, breast cancer and leukemia; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs61753793EnsemblClinVar.1
Natural variantiVAR_012958396L → V in HNPCC5; unknown pathological significance; normal mismatch repair activity. 3 PublicationsCorresponds to variant dbSNP:rs2020908EnsemblClinVar.1
Natural variantiVAR_068710435L → P Decreased mismatch repair activity. 1 PublicationCorresponds to variant dbSNP:rs63751405EnsemblClinVar.1
Natural variantiVAR_043949449L → P in CRC and ENDMC; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs63750741EnsemblClinVar.1
Natural variantiVAR_038035468R → H1 PublicationCorresponds to variant dbSNP:rs41295268EnsemblClinVar.1
Natural variantiVAR_042275492M → V in HNPCC5; unknown pathological significance; normal mismatch repair activity. 3 PublicationsCorresponds to variant dbSNP:rs61754783EnsemblClinVar.1
Natural variantiVAR_038036503S → C in HNPCC5; unknown pathological significance; normal mismatch repair activity. 2 PublicationsCorresponds to variant dbSNP:rs63750897EnsemblClinVar.1
Natural variantiVAR_043950509V → A1 PublicationCorresponds to variant dbSNP:rs63751005EnsemblClinVar.1
Natural variantiVAR_043951522Q → R in CRC; unknown pathological significance; normal mismatch repair activity. 2 PublicationsCorresponds to variant dbSNP:rs63751009EnsemblClinVar.1
Natural variantiVAR_038037538Y → S. Corresponds to variant dbSNP:rs728619Ensembl.1
Natural variantiVAR_012959566G → R in CRC and HNPCC5; decreased mismatch repair activity; loss of protein expression. 2 PublicationsCorresponds to variant dbSNP:rs63749973EnsemblClinVar.1
Natural variantiVAR_038038580S → L1 PublicationCorresponds to variant dbSNP:rs41295270EnsemblClinVar.1
Natural variantiVAR_068711585L → P Decreased mismatch repair activity. 1 PublicationCorresponds to variant dbSNP:rs587779220EnsemblClinVar.1
Natural variantiVAR_067296610K → N in HNPCC5; unknown pathological significance; normal mismatch repair activity. 1 PublicationCorresponds to variant dbSNP:rs201735525EnsemblClinVar.1
Natural variantiVAR_043952619E → D in CRC; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs63751121EnsemblClinVar.1
Natural variantiVAR_029244623P → A1 PublicationCorresponds to variant dbSNP:rs3136334EnsemblClinVar.1
Natural variantiVAR_043953623P → L in HNPCC5; unknown pathological significance; no impairment of heterodimerization with MSH2; normal mismatch repair activity. 2 PublicationsCorresponds to variant dbSNP:rs63750462EnsemblClinVar.1
Natural variantiVAR_068712677S → T Normal mismatch repair activity. 1 PublicationCorresponds to variant dbSNP:rs587779224EnsemblClinVar.1
Natural variantiVAR_043954685G → A in CRC; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs63750358EnsemblClinVar.1
Natural variantiVAR_012960698Q → E in HNPCC; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs63750832EnsemblClinVar.1
Natural variantiVAR_043955725I → M in CRC; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs63750304EnsemblClinVar.1
Natural variantiVAR_043956728K → T in HNPCC5; unknown pathological significance; no impairment of heterodimerization with MSH2; normal mismatch repair activity. 2 PublicationsCorresponds to variant dbSNP:rs35552856EnsemblClinVar.1
Natural variantiVAR_043957772R → Q in CRC; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs63750725EnsemblClinVar.1
Natural variantiVAR_043958772R → W in HNPCC5. 1 PublicationCorresponds to variant dbSNP:rs63750138EnsemblClinVar.1
Natural variantiVAR_043959787A → V in CRC; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs63750637EnsemblClinVar.1
Natural variantiVAR_043960800V → A in CRC; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs63750895Ensembl.1
Natural variantiVAR_012961800V → L1 PublicationCorresponds to variant dbSNP:rs61748083EnsemblClinVar.1
Natural variantiVAR_012962803D → G in CRC; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs63751450EnsemblClinVar.1
Natural variantiVAR_012963850Y → C in HNPCC5 and CRC; unknown pathological significance; normal mismatch repair activity. 3 PublicationsCorresponds to variant dbSNP:rs63750389EnsemblClinVar.1
Natural variantiVAR_043961854K → M in CRC; unknown pathological significance. 2 PublicationsCorresponds to variant dbSNP:rs34374438EnsemblClinVar.1
Natural variantiVAR_012964878V → A in HNPCC5, CRC and ENDMC; unknown pathological significance; normal mismatch repair activity. 9 Publications