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Gene MLH1
Variant L653R
Impact List missense
Protein Effect loss of function - predicted
Gene Variant Descriptions MLH1 L653R lies within the C-terminal dimerization domain of the Mlh1 protein (PMID: 22753075). L653R results in decreased mismatch repair (MMR) activity compared to wild-type Mlh1 in an in vitro assay (PMID: 17510385), and reduced interaction with Pms2 in a yeast two-hybrid assay (PMID: 21952876), and therefore, is predicted to lead to a loss of Mlh1 protein function.
Associated Drug Resistance
Category Variants Paths

MLH1 mutant MLH1 inact mut MLH1 L653R

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Transcript NM_000249.4
gDNA chr3:g.37048578T>G
cDNA c.1958T>G
Protein p.L653R
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000249.4 chr3:g.37048578T>G c.1958T>G p.L653R RefSeq GRCh38/hg38
NM_000249 chr3:g.37048578T>G c.1958T>G p.L653R RefSeq GRCh38/hg38
NM_000249.3 chr3:g.37048578T>G c.1958T>G p.L653R RefSeq GRCh38/hg38

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References