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Gene | MLH1 |
Variant | R265H |
Impact List | missense |
Protein Effect | no effect |
Gene Variant Descriptions | MLH1 R265H lies within the ATPase domain of the Mlh1 protein (PMID: 22753075). R265H results in protein expression comparable to wild-type in culture (PMID: 23403630) and mismatch repair activity comparable to wild-type in yeast assays (PMID: 17510385) and in in vitro assays (PMID: 11781295, PMID: 17510385, PMID: 23403630). |
Associated Drug Resistance | |
Category Variants Paths |
MLH1 mutant MLH1 R265H |
Transcript | NM_000249.4 |
gDNA | chr3:g.37017509G>A |
cDNA | c.794G>A |
Protein | p.R265H |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000249.4 | chr3:g.37017509G>A | c.794G>A | p.R265H | RefSeq | GRCh38/hg38 |
NM_001354628.2 | chr3:g.37017509G>A | c.794G>A | p.R265H | RefSeq | GRCh38/hg38 |
NM_001354630.2 | chr3:g.37017509G>A | c.794G>A | p.R265H | RefSeq | GRCh38/hg38 |
NM_001258271.2 | chr3:g.37017509G>A | c.794G>A | p.R265H | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
MLH1 R265H | no effect |