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Gene | MLH1 |
Variant | D485E |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | MLH1 D485E lies within the EXO1-interacting region of the Mlh1 protein (PMID: 22753075). D485E results in mismatch repair (MMR) activity comparable to wild-type Mlh1 in yeast assays (PMID: 17510385) and reduced interaction with Pms2 in a yeast-two-hybrid assay (PMID: 21952876), but leads to reduced MMR in an in vitro assay (PMID: 17510385), and therefore, its effect on Mlh1 protein function is unknown. |
Associated Drug Resistance | |
Category Variants Paths |
MLH1 mutant MLH1 D485E |
Transcript | NM_000249.4 |
gDNA | chr3:g.37028829T>G |
cDNA | c.1455T>G |
Protein | p.D485E |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001354630.2 | chr3:g.37028829T>G | c.1455T>G | p.D485E | RefSeq | GRCh38/hg38 |
NM_001258271.2 | chr3:g.37028829T>G | c.1455T>G | p.D485E | RefSeq | GRCh38/hg38 |
NM_000249.4 | chr3:g.37028829T>G | c.1455T>G | p.D485E | RefSeq | GRCh38/hg38 |
NM_001354628.2 | chr3:g.37028829T>G | c.1455T>G | p.D485E | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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