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Gene | MLH1 |
Variant | L749P |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | MLH1 L749P does not lie within any known functional domains of the Mlh1 protein (UniProt.org). L749P confers a loss of function to the Mlh1 protein as demonstrated by protein loss via immunostaining, inefficient mismatch repair activity (PMID: 14504054, PMID: 20533529), and has also been reported to have decreased protein expression (PMID: 21286667). |
Associated Drug Resistance | |
Category Variants Paths |
MLH1 mutant MLH1 inact mut MLH1 L749P |
Transcript | NM_000249.4 |
gDNA | chr3:g.37050628T>C |
cDNA | c.2246T>C |
Protein | p.L749P |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000249.3 | chr3:g.37050628T>C | c.2246T>C | p.L749P | RefSeq | GRCh38/hg38 |
NM_000249.4 | chr3:g.37050628T>C | c.2246T>C | p.L749P | RefSeq | GRCh38/hg38 |
NM_000249 | chr3:g.37050628T>C | c.2246T>C | p.L749P | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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