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Gene MLH1
Variant L607H
Impact List missense
Protein Effect unknown
Gene Variant Descriptions MLH1 L607H lies within the EXO1-interacting region and C-terminal dimerization domain of the Mlh1 protein (PMID: 22753075). L607H results in mismatch repair activity comparable to wild-type in yeast assays and in an in vitro assay (PMID: 17510385), microsatellite stability in patient samples (PMID: 11839723), and retains interaction with Pms2, but leads to loss of interaction with Fancj, increased sensitivity to cross-linking agents, and reduces methylation sensitivity in the presence of a methyltransferase (PMID: 20978114), and therefore, the effect on Mlh1 protein function is unknown.
Associated Drug Resistance
Category Variants Paths

MLH1 mutant MLH1 L607H

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Transcript NM_000249.4
gDNA chr3:g.37047607T>A
cDNA c.1820T>A
Protein p.L607H
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001354628.2 chr3:g.37047607T>A c.1820T>A p.L607H RefSeq GRCh38/hg38
NM_001258271.2 chr3:g.37047607T>A c.1820T>A p.L607H RefSeq GRCh38/hg38
NM_000249.4 chr3:g.37047607T>A c.1820T>A p.L607H RefSeq GRCh38/hg38

Filtering

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  • Use simple literal full or partial string matches
  • 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