Gene Variant Detail

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Gene MLH1
Variant K118N
Impact List missense
Protein Effect loss of function - predicted
Gene Variant Descriptions MLH1 K118N lies within the ATPase domain of the Mlh1 protein (PMID: 22753075). K118N results in increased mutation rates indicating a loss of mismatch repair activity compared to Mlh1 in parent strains of yeast-human hybrids (PMID: 15475387), and therefore, is predicted to lead to a loss of Mlh1 protein function.
Associated Drug Resistance
Category Variants Paths

MLH1 mutant MLH1 inact mut MLH1 K118N

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Transcript NM_000249.4
gDNA chr3:g.37004448A>C
cDNA c.354A>C
Protein p.K118N
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001354630.2 chr3:g.37004448A>C c.354A>C p.K118N RefSeq GRCh38/hg38
NM_001258271.2 chr3:g.37004448A>C c.354A>C p.K118N RefSeq GRCh38/hg38
XM_005265161.2 chr3:g.37004448A>C c.354A>C p.K118N RefSeq GRCh38/hg38
NM_000249.4 chr3:g.37004448A>C c.354A>C p.K118N RefSeq GRCh38/hg38
NM_000249 chr3:g.37004448A>C c.354A>C p.K118N RefSeq GRCh38/hg38
NM_001258271 chr3:g.37004448A>C c.354A>C p.K118N RefSeq GRCh38/hg38
NM_000249.3 chr3:g.37004448A>C c.354A>C p.K118N RefSeq GRCh38/hg38
NM_001354628.1 chr3:g.37004448A>C c.354A>C p.K118N RefSeq GRCh38/hg38
XM_005265161.3 chr3:g.37004448A>C c.354A>C p.K118N RefSeq GRCh38/hg38
NM_001258271.1 chr3:g.37004448A>C c.354A>C p.K118N RefSeq GRCh38/hg38
NM_001354628.2 chr3:g.37004448A>C c.354A>C p.K118N RefSeq GRCh38/hg38
XM_005265161 chr3:g.37004448A>C c.354A>C p.K118N RefSeq GRCh38/hg38
NM_001354630.1 chr3:g.37004448A>C c.354A>C p.K118N 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 K118N loss of function - predicted