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Gene MLH1
Variant L582P
Impact List missense
Protein Effect unknown
Gene Variant Descriptions MLH1 L582P lies within the EXO1-interacting region and C-terminal dimerization domain of the Mlh1 protein (PMID: 22753075). L582P results in loss of Mlh1, Pms2, Msh6 and is associated with microsatellite instability in patient samples (PMID: 36387226), reduced Mlh1 expression in culture, and reduced interaction with Pms2 in a yeast-two-hybrid assay (PMID: 21404117), but has not been fully biochemically characterized and therefore, its effect on Mlh1 protein function is unknown.
Associated Drug Resistance
Category Variants Paths

MLH1 mutant MLH1 L582P

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Transcript NM_000249.4
gDNA chr3:g.37047532T>C
cDNA c.1745T>C
Protein p.L582P
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001354628.2 chr3:g.37047532T>C c.1745T>C p.L582P RefSeq GRCh38/hg38
NM_000249.4 chr3:g.37047532T>C c.1745T>C p.L582P RefSeq GRCh38/hg38
NM_001258271.2 chr3:g.37047532T>C c.1745T>C p.L582P RefSeq GRCh38/hg38

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