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Gene MLH1
Variant L574P
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions MLH1 L574P lies within the EXO1-interacting region and C-terminal dimerization domain of the Mlh1 protein (PMID: 22753075). L574P confers a loss of function on Mlh1 as indicated by decreased interaction with Pms2 in a yeast two-hybrid assay (PMID: 12810663), and decreased mismatch repair (MMR) activity compared to wild-type in an in vitro assay (PMID: 17510385).
Associated Drug Resistance
Category Variants Paths

MLH1 mutant MLH1 inact mut MLH1 L574P

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Transcript NM_000249.4
gDNA chr3:g.37042321T>C
cDNA c.1721T>C
Protein p.L574P
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000249 chr3:g.37042321T>C c.1721T>C p.L574P RefSeq GRCh38/hg38
NM_001354628.1 chr3:g.37042321T>C c.1721T>C p.L574P RefSeq GRCh38/hg38
NM_000249.4 chr3:g.37042321T>C c.1721T>C p.L574P RefSeq GRCh38/hg38
NM_001354628.2 chr3:g.37042321T>C c.1721T>C p.L574P RefSeq GRCh38/hg38
NM_001354630.1 chr3:g.37042321T>C c.1721T>C p.L574P RefSeq GRCh38/hg38
NM_001258271 chr3:g.37042321T>C c.1721T>C p.L574P RefSeq GRCh38/hg38
NM_001354629.1 chr3:g.37047607T>C c.1721T>C p.L574P RefSeq GRCh38/hg38
XM_047448152.1 chr3:g.37047607T>C c.1721T>C p.L574P RefSeq GRCh38/hg38
NM_001354629.2 chr3:g.37047607T>C c.1721T>C p.L574P RefSeq GRCh38/hg38
NM_000249.3 chr3:g.37042321T>C c.1721T>C p.L574P RefSeq GRCh38/hg38
NM_001258271.2 chr3:g.37042321T>C c.1721T>C p.L574P RefSeq GRCh38/hg38
NM_001354630.2 chr3:g.37042321T>C c.1721T>C p.L574P RefSeq GRCh38/hg38
NM_001258271.1 chr3:g.37042321T>C c.1721T>C p.L574P RefSeq GRCh38/hg38

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