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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 |
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_000249.3 | 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_000249.4 | chr3:g.37048578T>G | c.1958T>G | p.L653R | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
MLH1 L653R | loss of function - predicted |