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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

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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_000249.4 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
XM_005265161.3 chr3:g.36996693A>G c.191A>G p.N64S RefSeq GRCh38/hg38
NM_001354629.2 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_001354628.2 chr3:g.36996693A>G c.191A>G p.N64S RefSeq GRCh38/hg38

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  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
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  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References