MLH1 K618T
Gene Variant Detail

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Gene MLH1
Variant K618T
Impact List missense
Protein Effect unknown
Gene Variant Descriptions MLH1 K618T lies within the EXO1-interacting region and C-terminal dimerization domain of the Mlh1 protein (PMID: 22753075). The functional effect of K618T is conflicting, as it has been shown to have mismatch repair activity and Pms2 binding similar to wild-type Mlh1 in one study (PMID: 16083711, PMID: 22753075, PMID: 21120944), but decreased mismatch repair activity in another study (PMID: 30504929), reduced binding to Pms2 in in vitro assays (PMID: 10037723, PMID: 30504929), and decreased MLH1 foci and chromosomal crossover during meiosis resulting in increased aneuploidy in a mouse model (PMID: 34408140), and therefore, its effect on Mlh1 protein function is unknown.
Associated Drug Resistance
Category Variants Paths

MLH1 mutant MLH1 K618T

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Transcript NM_000249.4
gDNA chr3:g.37047640A>C
cDNA c.1853A>C
Protein p.K618T
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000249.4 chr3:g.37047640A>C c.1853A>C p.K618T RefSeq GRCh38/hg38
NM_000249 chr3:g.37047640A>C c.1853A>C p.K618T RefSeq GRCh38/hg38
NM_001354628.2 chr3:g.37047640A>C c.1853A>C p.K618T RefSeq GRCh38/hg38
NM_001258271.1 chr3:g.37047640A>C c.1853A>C p.K618T RefSeq GRCh38/hg38
NM_001258271.2 chr3:g.37047640A>C c.1853A>C p.K618T RefSeq GRCh38/hg38
NM_000249.3 chr3:g.37047640A>C c.1853A>C p.K618T RefSeq GRCh38/hg38
NM_001354628.1 chr3:g.37047640A>C c.1853A>C p.K618T RefSeq GRCh38/hg38
NM_001258271 chr3:g.37047640A>C c.1853A>C p.K618T RefSeq GRCh38/hg38

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