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Gene | MLH1 |
Variant | V326A |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | MLH1 V326A lies within the ATPase domain of the Mlh1 protein (PMID: 22753075). The functional effect of V326A is conflicting as it results in repression activity similar to wild-type Mlh1 in a yeast reporter assay, interaction with Pms2 similar to wild-type Mlh1 in a yeast two-hybrid assay, and mismatch repair (MMR) similar to wild-type in one study (PMID: 11781295), but results in decreased Exo1 interaction in a yeast two-hybrid assay, decreased Pms2 binding in an in vitro assay (PMID: 12810663), and decreased MMR activity in an in vitro assay in another study (PMID: 17510385), and therefore, its effect on Mlh1 protein function is unknown. |
Associated Drug Resistance | |
Category Variants Paths |
MLH1 mutant MLH1 V326A |
Transcript | NM_000249.4 |
gDNA | chr3:g.37020402T>C |
cDNA | c.977T>C |
Protein | p.V326A |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000249.3 | chr3:g.37020402T>C | c.977T>C | p.V326A | RefSeq | GRCh38/hg38 |
NM_001258271.2 | chr3:g.37020402T>C | c.977T>C | p.V326A | RefSeq | GRCh38/hg38 |
NM_001354628.1 | chr3:g.37020402T>C | c.977T>C | p.V326A | RefSeq | GRCh38/hg38 |
NM_001354628.2 | chr3:g.37020402T>C | c.977T>C | p.V326A | RefSeq | GRCh38/hg38 |
NM_001354630.1 | chr3:g.37020402T>C | c.977T>C | p.V326A | RefSeq | GRCh38/hg38 |
NM_001354630.2 | chr3:g.37020402T>C | c.977T>C | p.V326A | RefSeq | GRCh38/hg38 |
NM_001258271.1 | chr3:g.37020402T>C | c.977T>C | p.V326A | RefSeq | GRCh38/hg38 |
NM_000249.4 | chr3:g.37020402T>C | c.977T>C | p.V326A | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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