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Gene MLH1
Variant S44F
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions MLH1 S44F lies within the ATPase domain of the Mlh1 protein (PMID: 22753075). S44F results in reduced expression of Pms2 and Mlh1 in culture (PMID: 36054288), decreased mismatch repair (MMR) activity in in vitro assays (PMID: 17510385, PMID: 15475387) and in cell culture (PMID: 31784484, PMID: 36054288), loss of interaction with Pms2 and Exo1 in yeast two-hybrid assays, and loss of repression activity in a yeast reporter assay (PMID: 12810663).
Associated Drug Resistance
Category Variants Paths

MLH1 mutant MLH1 inact mut MLH1 S44F

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Transcript NM_000249.4
gDNA chr3:g.36996633C>T
cDNA c.131C>T
Protein p.S44F
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001354628.2 chr3:g.36996633C>T c.131C>T p.S44F RefSeq GRCh38/hg38
NM_001354630.2 chr3:g.36996633C>T c.131C>T p.S44F RefSeq GRCh38/hg38
NM_001258271.2 chr3:g.36996633C>T c.131C>T p.S44F RefSeq GRCh38/hg38
NM_001354628.1 chr3:g.36996633C>T c.131C>T p.S44F RefSeq GRCh38/hg38
NM_001354629.2 chr3:g.36996633C>T c.131C>T p.S44F RefSeq GRCh38/hg38
NM_001258271.1 chr3:g.36996633C>T c.131C>T p.S44F RefSeq GRCh38/hg38
NM_001354629.1 chr3:g.36996633C>T c.131C>T p.S44F RefSeq GRCh38/hg38
XM_005265161.3 chr3:g.36996633C>T c.131C>T p.S44F RefSeq GRCh38/hg38
NM_000249.3 chr3:g.36996633C>T c.131C>T p.S44F RefSeq GRCh38/hg38
NM_001354630.1 chr3:g.36996633C>T c.131C>T p.S44F RefSeq GRCh38/hg38
XM_005265161.2 chr3:g.36996633C>T c.131C>T p.S44F RefSeq GRCh38/hg38
NM_000249.4 chr3:g.36996633C>T c.131C>T p.S44F RefSeq GRCh38/hg38

Filtering

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  • Use simple literal full or partial string matches
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  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

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Molecular Profile Protein Effect Treatment Approaches
MLH1 S44F loss of function