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Gene MLH1
Variant I68N
Impact List missense
Protein Effect loss of function - predicted
Gene Variant Descriptions MLH1 I68N lies within the ATPase domain of the Mlh1 protein (PMID: 22753075). I68N results in decreased mismatch repair (MMR) activity in in vitro assays (PMID: 17510385, PMID: 15475387), loss of interaction with Pms2 and Exo1 in yeast two-hybrid assays, and loss of repression activity in a yeast reporter assay (PMID: 12810663), and therefore, is predicted to lead to a loss of Mlh1 protein function.
Associated Drug Resistance
Category Variants Paths

MLH1 mutant MLH1 inact mut MLH1 I68N

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Transcript NM_000249.4
gDNA chr3:g.36996705T>A
cDNA c.203T>A
Protein p.I68N
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001258271.2 chr3:g.36996705T>A c.203T>A p.I68N RefSeq GRCh38/hg38
XM_005265161.2 chr3:g.36996705T>A c.203T>A p.I68N RefSeq GRCh38/hg38
NM_001258271.1 chr3:g.36996705T>A c.203T>A p.I68N RefSeq GRCh38/hg38
NM_000249.3 chr3:g.36996705T>A c.203T>A p.I68N RefSeq GRCh38/hg38
NM_001354630.1 chr3:g.36996705T>A c.203T>A p.I68N RefSeq GRCh38/hg38
NM_001354628.2 chr3:g.36996705T>A c.203T>A p.I68N RefSeq GRCh38/hg38
NM_001354629.1 chr3:g.36996705T>A c.203T>A p.I68N RefSeq GRCh38/hg38
NM_001354628.1 chr3:g.36996705T>A c.203T>A p.I68N RefSeq GRCh38/hg38
XM_005265161.3 chr3:g.36996705T>A c.203T>A p.I68N RefSeq GRCh38/hg38
NM_000249.4 chr3:g.36996705T>A c.203T>A p.I68N RefSeq GRCh38/hg38
NM_001354629.2 chr3:g.36996705T>A c.203T>A p.I68N RefSeq GRCh38/hg38
NM_001354630.2 chr3:g.36996705T>A c.203T>A p.I68N RefSeq GRCh38/hg38

Filtering

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Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries