MSH3 variant:MSH2-defective DNA mismatch repair

Stable Identifier
R-HSA-5578663
Type
Reaction [transition]
Species
Homo sapiens
Compartment
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MSH3 forms a heterodimer with MSH2 to form the MSH3:MSH2 complex, part of the post-replicative DNA mismatch repair system. The MSH3 414TER variant represented here was identified in an endometrial carcinoma cell line (Risinger et al., 1996). The mutation resulted in a truncated product and consisted of a single nucleotide deletion, loss of an A/T basepair at position 1148. This change generated a premature nonsense codon and results in a protein 723 amino acids shorter than the wildtype gene product.

Literature References
PubMed ID Title Journal Year
8782829 Mutation of MSH3 in endometrial cancer and evidence for its functional role in heteroduplex repair

Risinger, JI, Umar, A, Boyd, J, Berchuck, A, Kunkel, TA, Barrett, JC

Nat. Genet. 1996
Participants
Participant Of
Normal reaction
Disease
Name Identifier Synonyms
endometrial cancer 1380 primary malignant neoplasm of endometrium, neoplasm of endometrium (disorder), endometrial neoplasm, malignant endometrial neoplasm, endometrial Ca, malignant neoplasm of endometrium, tumor of Endometrium
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Reviewed
Created