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Gene | MLH1 |
Variant | E578G |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | MLH1 E578G lies within the EXO1-interacting region and C-terminal dimerization domain of the Mlh1 protein (PMID: 22753075). E578G results in stable Pms2 and Mlh1 expression and mismatch repair activity comparable to wild-type in culture in one study (PMID: 36054288), but in others demonstrates a loss of mismatch repair activity in an in-vitro assay (PMID: 20020535) and loss of interaction with Pms2 (PMID: 11292842), and therefore, its effect on Mlh1 protein function is unknown. |
Associated Drug Resistance | |
Category Variants Paths |
MLH1 mutant MLH1 E578G |
Transcript | NM_000249.4 |
gDNA | chr3:g.37047520A>G |
cDNA | c.1733A>G |
Protein | p.E578G |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |