MSH6 variant:MSH2-defective DNA mismatch repair

Stable Identifier
R-HSA-5632970
Type
Reaction [transition]
Species
Homo sapiens
Compartment
nucleoplasm
ReviewStatus
5/5
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MSH6 variant:MSH2-defective DNA mismatch repair
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MSH6 encodes a G/T mismatch-binding protein. The MSH6 LEU222TER variant is a 1-bp deletion within the MSH6 gene in the Human colon adenocarcinoma cell line, HCT-15. The variant occurs at codon 222, changing a leucine to a termination codon. The same study also idetified a 5-bp deletion/substitution at codon 1103 (TTGATAGAGT to TTTGT), which created a new termination codon 9-bp downstream (Papadopoulos et al., 1995).
Literature References
PubMed ID Title Journal Year
7604266 Mutations of GTBP in genetically unstable cells

Willson, JK, D'Arrigo, A, Palombo, F, Papadopoulos, N, Lengauer, C, Nicolaides, NC, Kinzler, KW, Parsons, R, Markowitz, S, Liu, B

Science 1995
Participants
Input
Participates
as an event of
Normal reaction
Formation of MSH2:MSH6 Complex (Homo sapiens)
Functional status

Loss of function of MSH6 LEU222TER [nucleoplasm]

Normal Entity
Disease Entity
Status
Disease
Name Identifier Synonyms
colorectal cancer DOID:9256
Authored
Gillespie, ME  (2014-05-30)
Reviewed
Arora, S  (2016-11-01)
Created
Gillespie, ME  (2014-10-29)
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