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Gene | MLH1 |
Variant | R755S |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | MLH1 R755S does not lie within any known functional domains of the Mlh1 protein (UniProt.org). The functional effect of R755S is conflicting as it results in Mlh1 and Pms2 expression similar to wild-type, retains interaction with Pms2 in culture (PMID: 20533529), and leads to mismatch repair (MMR) activity similar to wild-type in yeast assays (PMID: 17510385) but results in reduced MMR activity in in vitro assays (PMID: 17510385, PMID: 20533529). |
Associated Drug Resistance | |
Category Variants Paths |
MLH1 mutant MLH1 R755S |
Transcript | NM_000249.4 |
gDNA | chr3:g.37050647G>C |
cDNA | c.2265G>C |
Protein | p.R755S |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000249.4 | chr3:g.37050647G>C | c.2265G>C | p.R755S | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
MLH1 mutant | colon cancer | not applicable | N/A | Guideline | Risk Factor | Lynch syndrome results from germline mutations in DNA mismatch repair genes including MLH1, MSH2, MSH6, and PMS2, and is associated with increased risk of developing colon cancer (NCCN.org). | detail... |
MLH1 mutant | rectum cancer | not applicable | N/A | Guideline | Risk Factor | Lynch syndrome results from germline mutations in DNA mismatch repair genes including MLH1, MSH2, MSH6, and PMS2, and is associated with increased risk of developing colorectal cancer (NCCN.org). | detail... |
MLH1 mutant | endometrial carcinoma | not applicable | N/A | Guideline | Risk Factor | Germline mutations in MLH1 result in Lynch syndrome, which is associated with increased risk of developing endometrial carcinoma (NCCN.org). | detail... |
MLH1 mutant | pancreatic cancer | not applicable | N/A | Guideline | Risk Factor | Germline mutations in MLH1 result in Lynch syndrome, which is associated with increased risk of developing pancreatic cancer (NCCN.org). | detail... |
MLH1 mutant | stomach cancer | not applicable | N/A | Guideline | Risk Factor | Germline mutations in MLH1 result in Lynch syndrome, which is associated with increased risk of early onset of gastric cancer (NCCN.org). | detail... |
MLH1 mutant | ovarian cancer | not applicable | N/A | Guideline | Risk Factor | Germline mutations in MLH1 result in Lynch syndrome, which is associated with increased risk of ovarian cancer (NCCN.org). | detail... |
MLH1 mutant | small intestine adenocarcinoma | not applicable | N/A | Guideline | Risk Factor | Lynch syndrome results from germline mutations in DNA mismatch repair genes including MLH1, MSH2, MSH6, and PMS2, and is associated with increased risk of developing small bowel adenocarcinoma (NCCN.org). | detail... |