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Gene | MLH1 |
Variant | L749* |
Impact List | nonsense |
Protein Effect | loss of function |
Gene Variant Descriptions | MLH1 L749* results in a premature truncation of the Mlh1 protein at amino acid 749 of 756 (UniProt.org). L749* results in a loss of the C-terminal domain and demonstrates decreased stability of the Mlh1/Pms2 heterodimer, increased mutation rates, and failure to induce cell-cycle arrest of drug-induced MLH1 L749*-expressing cells in culture (PMID: 16338176). |
Associated Drug Resistance | |
Category Variants Paths |
MLH1 mutant MLH1 inact mut MLH1 L749* |
Transcript | NM_000249.4 |
gDNA | chr3:g.37050627_37050628delCTinsTA |
cDNA | c.2245_2246delCTinsTA |
Protein | p.L749* |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000249 | chr3:g.37050627_37050628delCTinsTA | c.2245_2246delCTinsTA | p.L749* | RefSeq | GRCh38/hg38 |
NM_000249.3 | chr3:g.37050627_37050628delCTinsTA | c.2245_2246delCTinsTA | p.L749* | RefSeq | GRCh38/hg38 |
NM_000249.4 | chr3:g.37050627_37050628delCTinsTA | c.2245_2246delCTinsTA | p.L749* | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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