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Gene | MLH1 |
Variant | S627T |
Impact List | missense |
Protein Effect | no effect - predicted |
Gene Variant Descriptions | MLH1 S627T lies within the EXO1-interacting region and C-terminal dimerization domain of the Mlh1 protein (PMID: 22753075). S627T demonstrates alternative splicing but leads to Mlh1 and Pms2 expression comparable to wild-type and mismatch repair activity similar to wild-type in culture (PMID: 36054288), and therefore, is predicted to have no effect on Mlh1 protein function. |
Associated Drug Resistance | |
Category Variants Paths |
MLH1 mutant MLH1 S627T |
Transcript | NM_000249.4 |
gDNA | chr3:g.37047666T>A |
cDNA | c.1879T>A |
Protein | p.S627T |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001258271.2 | chr3:g.37047666T>A | c.1879T>A | p.S627T | RefSeq | GRCh38/hg38 |
NM_001354628.2 | chr3:g.37047666T>A | c.1879T>A | p.S627T | RefSeq | GRCh38/hg38 |
NM_000249.4 | chr3:g.37047666T>A | c.1879T>A | p.S627T | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
MLH1 S627T | no effect - predicted |