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Gene | MLH1 |
Variant | N64S |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | MLH1 N64S lies within the ATPase domain of the Mlh1 protein (PMID: 22753075). The functional effect of N64S is conflicting as it results in reduced Pms2 and Mlh1 expression in culture (PMID: 36054288, PMID: 21404117), reduced interaction with Pms2 in a yeast-two-hybrid assay (PMID: 21404117), loss of mismatch repair (MMR) activity in two of three yeast assays, reduced MMR activity in vitro (PMID: 17510385) and in culture (PMID: 17135187), and increased mutation rate in yeast assays (PMID: 17210669), but in other studies results in stabilization of Pms2 in culture (PMID: 17135187), MMR activity comparable to wild-type in culture, and demonstrates no splicing defects (PMID: 36054288). |
Associated Drug Resistance | |
Category Variants Paths |
MLH1 mutant MLH1 N64S |
Transcript | NM_000249.4 |
gDNA | chr3:g.36996693A>G |
cDNA | c.191A>G |
Protein | p.N64S |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001354629.2 | chr3:g.36996693A>G | c.191A>G | p.N64S | RefSeq | GRCh38/hg38 |
NM_000249.4 | chr3:g.36996693A>G | c.191A>G | p.N64S | RefSeq | GRCh38/hg38 |
NM_001258271.2 | chr3:g.36996693A>G | c.191A>G | p.N64S | RefSeq | GRCh38/hg38 |
NM_001354630.2 | chr3:g.36996693A>G | c.191A>G | p.N64S | RefSeq | GRCh38/hg38 |
NM_001354628.2 | chr3:g.36996693A>G | c.191A>G | p.N64S | RefSeq | GRCh38/hg38 |
XM_005265161.3 | chr3:g.36996693A>G | c.191A>G | p.N64S | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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