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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

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Transcript NM_000249.4
gDNA chr3:g.37047520A>G
cDNA c.1733A>G
Protein p.E578G
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001354630.1 chr3:g.37048518A>G c.1733A>G p.E578G RefSeq GRCh38/hg38
NM_001354630.2 chr3:g.37048518A>G c.1733A>G p.E578G RefSeq GRCh38/hg38
NM_000249.3 chr3:g.37047520A>G c.1733A>G p.E578G RefSeq GRCh38/hg38
NM_001354628.2 chr3:g.37047520A>G c.1733A>G p.E578G RefSeq GRCh38/hg38
NM_001258271 chr3:g.37047520A>G c.1733A>G p.E578G RefSeq GRCh38/hg38
NM_001258271.1 chr3:g.37047520A>G c.1733A>G p.E578G RefSeq GRCh38/hg38
NM_001354628.1 chr3:g.37047520A>G c.1733A>G p.E578G RefSeq GRCh38/hg38
NM_000249 chr3:g.37047520A>G c.1733A>G p.E578G RefSeq GRCh38/hg38
NM_001258271.2 chr3:g.37047520A>G c.1733A>G p.E578G RefSeq GRCh38/hg38
NM_000249.4 chr3:g.37047520A>G c.1733A>G p.E578G RefSeq GRCh38/hg38

Filtering

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  • Use simple literal full or partial string matches
  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
  • Filtering will only apply to rows that are already loaded on the page. Filtering has no impact on query parameters.
  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

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Molecular Profile Protein Effect Treatment Approaches
MLH1 E578G unknown