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Gene MLH1
Variant S193P
Impact List missense
Protein Effect loss of function - predicted
Gene Variant Descriptions MLH1 S193P lies within the ATPase domain of the Mlh1 protein (PMID: 22753075). S193P results in a loss of mismatch repair (MMR) activity in an in vitro assay (PMID: 17510385), 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 S193P

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Transcript NM_000249.4
gDNA chr3:g.37011851T>C
cDNA c.577T>C
Protein p.S193P
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001258271.1 chr3:g.37011851T>C c.577T>C p.S193P RefSeq GRCh38/hg38
NM_001354630.2 chr3:g.37011851T>C c.577T>C p.S193P RefSeq GRCh38/hg38
XM_005265161.3 chr3:g.37011851T>C c.577T>C p.S193P RefSeq GRCh38/hg38
NM_001258271.2 chr3:g.37011851T>C c.577T>C p.S193P RefSeq GRCh38/hg38
NM_000249.4 chr3:g.37011851T>C c.577T>C p.S193P RefSeq GRCh38/hg38
NM_000249.3 chr3:g.37011851T>C c.577T>C p.S193P RefSeq GRCh38/hg38
NM_001354628.1 chr3:g.37011851T>C c.577T>C p.S193P RefSeq GRCh38/hg38
NM_000249 chr3:g.37011851T>C c.577T>C p.S193P RefSeq GRCh38/hg38
NM_001354628.2 chr3:g.37011851T>C c.577T>C p.S193P RefSeq GRCh38/hg38
XM_005265161 chr3:g.37011851T>C c.577T>C p.S193P RefSeq GRCh38/hg38
NM_001354630.1 chr3:g.37011851T>C c.577T>C p.S193P RefSeq GRCh38/hg38
XM_005265161.2 chr3:g.37011851T>C c.577T>C p.S193P RefSeq GRCh38/hg38
NM_001258271 chr3:g.37011851T>C c.577T>C p.S193P RefSeq GRCh38/hg38

Filtering

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Sorting

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Molecular Profile Protein Effect Treatment Approaches
MLH1 S193P loss of function - predicted