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Gene | MLH1 |
Variant | H329P |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | MLH1 H329P lies within the ATPase domain of the Mlh1 protein (PMID: 22753075). H329P results in altered subcellular localization and reduced protein expression (PMID: 21120944), decreased mismatch repair (MMR) activity in yeast (PMID: 17510385), but demonstrates proficient mismatch repair activity (PMID: 21120944), and ATPase activity, suppression of interstitial telomeric sequences, and localization to double-strand break sites (DSBs) similar to wild-type Mlh1 in cultured cells (PMID: 29544212), and therefore, its effect on Mlh1 protein function is unknown. |
Associated Drug Resistance | |
Category Variants Paths |
MLH1 mutant MLH1 H329P |
Transcript | NM_000249.4 |
gDNA | chr3:g.37020411A>C |
cDNA | c.986A>C |
Protein | p.H329P |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001258271 | chr3:g.37020411A>C | c.986A>C | p.H329P | RefSeq | GRCh38/hg38 |
NM_001354628.1 | chr3:g.37020411A>C | c.986A>C | p.H329P | RefSeq | GRCh38/hg38 |
NM_000249.3 | chr3:g.37020411A>C | c.986A>C | p.H329P | RefSeq | GRCh38/hg38 |
NM_001354630.2 | chr3:g.37020411A>C | c.986A>C | p.H329P | RefSeq | GRCh38/hg38 |
NM_001258271.2 | chr3:g.37020411A>C | c.986A>C | p.H329P | RefSeq | GRCh38/hg38 |
NM_001354630.1 | chr3:g.37020411A>C | c.986A>C | p.H329P | RefSeq | GRCh38/hg38 |
NM_000249 | chr3:g.37020411A>C | c.986A>C | p.H329P | RefSeq | GRCh38/hg38 |
NM_001258271.1 | chr3:g.37020411A>C | c.986A>C | p.H329P | RefSeq | GRCh38/hg38 |
NM_001354628.2 | chr3:g.37020411A>C | c.986A>C | p.H329P | RefSeq | GRCh38/hg38 |
NM_000249.4 | chr3:g.37020411A>C | c.986A>C | p.H329P | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
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 | 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... |
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 | 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 | 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 | 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... |