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Gene Symbol MSH3
Synonyms DUP | FAP4 | MRP1
Gene Description MSH3, mutS homolog 3, encodes for one of the DNA mismatch repair proteins, which forms a stable heterodimer with MSH2 in order to recognize and repair mismatched DNA (PMID: 8942985), and may play a role in inflammation (PMID: 32284349). Somatic MSH3 mutations have been identified in colon, lung, and breast cancers, and oral squamous cell carcinoma while MSH3 polymorphisms, which may be associated with increased risk, have been observed in ovarian and prostate cancers, and non-small cell lung carcinoma (PMID: 25966119, PMID: 31953835).
NCBI Gene ID Chromosome Map Location Canonical Transcript Gene Role
4437 5 5q14.1 NM_002439 Unknown

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Variant Impact Protein Effect Variant Description Associated with drug Resistance
A57_A62del deletion unknown MSH3 A57_A62del results in the deletion of six amino acids in the Msh3 protein from amino acids 57 to 62 (UniProt.org). A57_A62del has been identified in the scientific literature (PMID: 25927356), but has not been biochemically characterized and therefore, its effect on Msh3 protein function is unknown (PubMed, Nov 2022).
E797* nonsense loss of function - predicted MSH3 E797* results in a premature truncation of the Msh3 protein at amino acid 797 of 1137 (UniProt.org). Due to the loss of the ATPase and dimerization domains (PMID: 27476653), E797* is predicted to lead to a loss of Msh3 protein function.
I754M missense unknown MSH3 I754M does not lie within any known functional domains of the Msh3 protein (UniProt.org). I754M has been identified in sequencing studies (PMID: 34465320), but has not been biochemically characterized and therefore, its effect on Msh3 protein function is unknown (PubMed, Mar 2023).
inact mut unknown loss of function MSH3 inact mut indicates that this variant results in a loss of function of the Msh3 protein. However, the specific amino acid change has not been identified.
K383fs frameshift loss of function - predicted MSH3 K383fs results in a change in the amino acid sequence of the Msh3 protein beginning at aa 383 of 1137, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of the DNA-recognition, ATPase, and dimerization domains (PMID: 27476653), K383fs is predicted to lead to a loss of Msh3 protein function.
K383Rfs*32 frameshift loss of function - predicted MSH3 K383Rfs*32 indicates a shift in the reading frame starting at amino acid 383 and terminating 32 residues downstream causing a premature truncation of the 1137 amino acid Msh3 protein (UniProt.org). Due to the loss of the DNA-recognition, ATPase, and dimerization domains (PMID: 27476653), K383Rfs*32 is predicted to lead to a loss of Msh3 protein function.
L587Gfs*7 frameshift loss of function - predicted MSH3 L587Gfs*7 indicates a shift in the reading frame starting at amino acid 587 and terminating 7 residues downstream causing a premature truncation of the 1137 amino acid Msh3 protein (UniProt.org). Due to the loss of the DNA-recognition, ATPase, and dimerization domains (PMID: 27476653), L587Gfs*7 is predicted to lead to a loss of Msh3 protein function.
loss unknown loss of function MSH3 loss indicates loss of the MSH3 gene, mRNA, and protein.
mutant unknown unknown MSH3 mutant indicates an unspecified mutation in the MSH3 gene.
P63A missense unknown MSH3 P63A lies within the EXO11-interacting region of the Msh3 protein (UniProt.org). P63A has been identified in the scientific literature (PMID: 32171644), but has not been biochemically characterized and therefore, its effect on Msh3 protein function is unknown (PubMed, Mar 2023).
P67_P69del deletion unknown MSH3 P67_P69del results in the deletion of three amino acids in the Msh3 protein from amino acids 67 to 69 (UniProt.org). P67_P69del has been identified in the scientific literature (PMID: 25927356, PMID: 34885191), but has not been biochemically characterized and therefore, its effect on Msh3 protein function is unknown (PubMed, Nov 2022).
S603A missense unknown MSH3 S603A does not lie within any known functional domains of the Msh3 protein (UniProt.org). S603A has not been characterized in the scientific literature and therefore, its effect on Msh3 protein function is unknown (PubMed, Dec 2022).