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Gene | MLH1 |
Variant | P603R |
Impact List | missense |
Protein Effect | no effect - predicted |
Gene Variant Descriptions | MLH1 P603R lies within the EXO1-interacting region and C-terminal dimerization domain of the Mlh1 protein (PMID: 22753075). P603R results in mismatch repair activity comparable to wild-type in yeast assays and in an vitro assay (PMID: 17510385), protein expression comparable to wild-type in culture, and interaction with Pms2 similar to wild-type in a yeast-two-hybrid assay (PMID: 21404117), and therefore, is predicted to have no effect on Mlh1 protein function. |
Associated Drug Resistance | |
Category Variants Paths |
MLH1 mutant MLH1 P603R |
Transcript | NM_000249.4 |
gDNA | chr3:g.37047595C>G |
cDNA | c.1808C>G |
Protein | p.P603R |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001258271.2 | chr3:g.37047595C>G | c.1808C>G | p.P603R | RefSeq | GRCh38/hg38 |
NM_000249.4 | chr3:g.37047595C>G | c.1808C>G | p.P603R | RefSeq | GRCh38/hg38 |
NM_001354628.2 | chr3:g.37047595C>G | c.1808C>G | p.P603R | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
MLH1 P603R | no effect - predicted |