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Gene | MLH1 |
Variant | I219V |
Impact List | missense |
Protein Effect | no effect |
Gene Variant Descriptions | MLH1 I219V lies within the ATPase domain of the Mlh1 protein (PMID: 22753075). I219V is a common polymorphism with activity comparable to wild-type Mlh1 (PMID: 20020535) as demonstrated by functional mismatch repair activity in culture (PMID: 36054288) and in in vitro assays and protein expression comparable to wild-type Mlh1 (PMID: 21120944, PMID: 31881334, PMID: 23403630), and subcellular localization similar to wild-type (PMID: 21120944, PMID: 31881334). |
Associated Drug Resistance | |
Category Variants Paths |
MLH1 mutant MLH1 I219V |
Transcript | NM_000249.4 |
gDNA | chr3:g.37012077A>G |
cDNA | c.655A>G |
Protein | p.I219V |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000249 | chr3:g.37012077A>G | c.655A>G | p.I219V | RefSeq | GRCh38/hg38 |
NM_001258271.2 | chr3:g.37012077A>G | c.655A>G | p.I219V | RefSeq | GRCh38/hg38 |
NM_001354630.2 | chr3:g.37012077A>G | c.655A>G | p.I219V | RefSeq | GRCh38/hg38 |
XM_005265161 | chr3:g.37012077A>G | c.655A>G | p.I219V | RefSeq | GRCh38/hg38 |
NM_000249.4 | chr3:g.37012077A>G | c.655A>G | p.I219V | RefSeq | GRCh38/hg38 |
NM_001258271.1 | chr3:g.37012077A>G | c.655A>G | p.I219V | RefSeq | GRCh38/hg38 |
XM_005265161.3 | chr3:g.37012077A>G | c.655A>G | p.I219V | RefSeq | GRCh38/hg38 |
NM_001258271 | chr3:g.37012077A>G | c.655A>G | p.I219V | RefSeq | GRCh38/hg38 |
NM_001354628.1 | chr3:g.37012077A>G | c.655A>G | p.I219V | RefSeq | GRCh38/hg38 |
NM_001354628.2 | chr3:g.37012077A>G | c.655A>G | p.I219V | RefSeq | GRCh38/hg38 |
NM_000249.3 | chr3:g.37012077A>G | c.655A>G | p.I219V | RefSeq | GRCh38/hg38 |
XM_005265161.2 | chr3:g.37012077A>G | c.655A>G | p.I219V | RefSeq | GRCh38/hg38 |
NM_001354630.1 | chr3:g.37012077A>G | c.655A>G | p.I219V | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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